#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
YARS	8565	broad.mit.edu	37	1	33244985	33244985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:33244985G>A	ENST00000373477.4	-	12	2382	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	492					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.Q492*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTTTTACCTGCAACTTCTCG	0.532																																						uc001bvy.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(1474-1476)CAG>TAG		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						131.0	129.0	130.0					1																	33244985		2203	4300	6503	SO:0001587	stop_gained	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33244985G>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1474C>T	1.37:g.33244985G>A	ENSP00000362576:p.Gln492*					YARS_uc001bvw.1_Nonsense_Mutation_p.Q152*|YARS_uc001bvx.1_Nonsense_Mutation_p.Q143*	p.Q492*	NM_003680	NP_003671	P54577	SYYC_HUMAN			12	2262	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	492					B3KWK4|D3DPQ4|O43276|Q53EN1	Nonsense_Mutation	SNP	ENST00000373477.4	37	c.1474C>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	47	13.186510	0.99726	.	.	ENSG00000134684	ENST00000373477	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.0992	20.5276	0.99231	0.0:0.0:1.0:0.0	.	.	.	.	X	492	.	ENSP00000362576:Q492X	Q	-	1	0	YARS	33017572	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.574000	0.98184	2.937000	0.99478	0.650000	0.86243	CAG		PASS	0.532	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		5	218	5	218	---	---	---	---
C1orf216	127703	broad.mit.edu	37	1	36181874	36181874	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:36181874C>A	ENST00000270815.4	-	2	819	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	C1orf216_ENST00000503824.1_5'UTR	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	17								p.D17Y(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGAGGTGGGTCCCCCAGGAAT	0.577											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(49-51)GAC>TAC		hypothetical protein LOC127703							48.0	45.0	46.0					1																	36181874		2203	4300	6503	SO:0001583	missense	127703							g.chr1:36181874C>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.49G>T	1.37:g.36181874C>A	ENSP00000425166:p.Asp17Tyr		OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861		p.D17Y	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN			2	537	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	17					D3DPS1|Q8N8N6	Missense_Mutation	SNP	ENST00000270815.4	37	c.49G>T	CCDS395.1	.	.	.	.	.	.	.	.	.	.	C	5.623	0.299620	0.10622	.	.	ENSG00000142686	ENST00000270815;ENST00000422623	.	.	.	5.1	2.18	0.27775	.	0.737803	0.12346	N	0.477079	T	0.19886	0.0478	N	0.08118	0	0.09310	N	1	B	0.27765	0.188	B	0.30401	0.115	T	0.23511	-1.0186	9	0.54805	T	0.06	-1.8232	7.5677	0.27890	0.0:0.729:0.0:0.271	.	17	Q8TAB5	CA216_HUMAN	Y	17	.	ENSP00000425166:D17Y	D	-	1	0	C1orf216	35954461	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.820000	0.27323	0.166000	0.19597	0.555000	0.69702	GAC		PASS	0.577	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		4	69	4	69	---	---	---	---
ZC3H12A	80149	broad.mit.edu	37	1	37948064	37948064	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:37948064G>A	ENST00000373087.6	+	5	964	c.848G>A	c.(847-849)cGg>cAg	p.R283Q		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.R283Q(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACTGGGCCGGCACGGGCCC	0.602																																						uc001cbb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(847-849)CGG>CAG		zinc finger CCCH-type containing 12A							93.0	103.0	100.0					1																	37948064		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948064G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.848G>A	1.37:g.37948064G>A	ENSP00000362179:p.Arg283Gln					ZC3H12A_uc001cbc.1_Missense_Mutation_p.G13S	p.R283Q	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			5	998	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	283						Missense_Mutation	SNP	ENST00000373087.6	37	c.848G>A	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704198	0.96812	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.61158	0.13	5.05	5.05	0.67936	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88339	0.2973	10	0.87932	D	0	-30.1288	18.7673	0.91878	0.0:0.0:1.0:0.0	.	283	Q5D1E8	ZC12A_HUMAN	Q	283	ENSP00000362179:R283Q	ENSP00000362174:R283Q	R	+	2	0	ZC3H12A	37720651	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	9.751000	0.98889	2.477000	0.83638	0.563000	0.77884	CGG		PASS	0.602	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		15	264	15	264	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42047570	42047570	+	Missense_Mutation	SNP	G	G	A	rs141506685	byFrequency	TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:42047570G>A	ENST00000372583.1	-	4	3784	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R967C|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R967C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R967C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	967	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R967C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTTTGGGGCGCATGTCAGAT	0.612																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2899-2901)CGC>TGC		human immunodeficiency virus type I enhancer		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	55.0	59.0	58.0		2899,2899	5.0	0.9	1	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	967/2406,967/2407	42047570	2,13004	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047570G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2899C>T	1.37:g.42047570G>A	ENSP00000361664:p.Arg967Cys					HIVEP3_uc001cha.3_Missense_Mutation_p.R967C|HIVEP3_uc001cgy.2_RNA	p.R967C	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4112	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	967			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2899C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964085	0.53507	4.54E-4	0.0	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.01	5.01	0.66863	.	0.129433	0.36002	N	0.002849	T	0.53916	0.1826	L	0.29908	0.895	0.52501	D	0.999958	D;D	0.76494	0.999;0.999	P;P	0.57776	0.827;0.676	T	0.57740	-0.7759	10	0.66056	D	0.02	-14.5458	18.1057	0.89519	0.0:0.0:1.0:0.0	.	967;967	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	967	ENSP00000361665:R967C;ENSP00000361664:R967C;ENSP00000247584:R967C;ENSP00000410828:R967C	ENSP00000247584:R967C	R	-	1	0	HIVEP3	41820157	1.000000	0.71417	0.920000	0.36463	0.010000	0.07245	9.595000	0.98260	2.598000	0.87819	0.462000	0.41574	CGC		PASS	0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		4	151	4	151	---	---	---	---
SPATA6	54558	broad.mit.edu	37	1	48771547	48771547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:48771547C>A	ENST00000371847.3	-	12	1362	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E384*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E328*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	400					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E400*(2)|p.E400K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGGTCTCTCTCATCCTGAAAA	0.368																																						uc001crr.1																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(2)|breast(1)	ovary(1)	1						c.(1198-1200)GAG>TAG		spermatogenesis associated 6 precursor							153.0	166.0	161.0					1																	48771547		2203	4300	6503	SO:0001587	stop_gained	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48771547C>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1198G>T	1.37:g.48771547C>A	ENSP00000360913:p.Glu400*					SPATA6_uc001crs.1_Nonsense_Mutation_p.E384*|SPATA6_uc010omv.1_Nonsense_Mutation_p.E386*	p.E400*	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN			12	1363	-			400					Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	ENST00000371847.3	37	c.1198G>T	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822867	0.96989	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	4.4	4.4	0.53042	.	0.268949	0.35320	N	0.003290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.6588	0.56801	0.0:1.0:0.0:0.0	.	.	.	.	X	400;384;328;225	.	ENSP00000360907:E225X	E	-	1	0	SPATA6	48544134	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.900000	0.56295	2.454000	0.82982	0.467000	0.42956	GAG		PASS	0.368	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		6	75	6	75	---	---	---	---
MROH7	374977	broad.mit.edu	37	1	55175632	55175632	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:55175632G>C	ENST00000421030.2	+	24	4029	c.3744G>C	c.(3742-3744)ttG>ttC	p.L1248F	MROH7_ENST00000454855.2_Missense_Mutation_p.L766F|MROH7_ENST00000409996.1_Missense_Mutation_p.L816F|MROH7-TTC4_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1248						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L1245F(1)|p.L1248F(1)									TGGATAACTTGAGACATGACC	0.567																																						uc010ooe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3742-3744)TTG>TTC		hypothetical protein LOC374977							83.0	85.0	84.0					1																	55175632		2029	4189	6218	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55175632G>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3744G>C	1.37:g.55175632G>C	ENSP00000396622:p.Leu1248Phe					C1orf175_uc001cxq.2_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.L766F|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.L449F	p.L1248F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			24	4068	+			1248					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.3744G>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	g	19.41	3.822848	0.71028	.	.	ENSG00000184313	ENST00000421030;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.62332	0.2419	M	0.75777	2.31	0.32480	N	0.54161	D;P	0.69078	0.997;0.948	D;P	0.64410	0.925;0.7	T	0.72154	-0.4376	9	0.62326	D	0.03	.	13.9175	0.63908	0.0:0.0:1.0:0.0	.	1248;1247	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	F	1248;816;766;317	ENSP00000396622:L1248F;ENSP00000387048:L816F;ENSP00000401130:L766F;ENSP00000360336:L317F	ENSP00000360336:L317F	L	+	3	2	HEATR8	54948220	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	1.647000	0.37260	2.335000	0.79485	0.586000	0.80456	TTG		PASS	0.567	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		4	172	4	172	---	---	---	---
BSND	7809	broad.mit.edu	37	1	55464936	55464936	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:55464936T>A	ENST00000371265.4	+	1	331	c.77T>A	c.(76-78)aTg>aAg	p.M26K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	26					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.M26K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACGTTCCTCATGAGCCATGAT	0.612																																					Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(76-78)ATG>AAG		barttin							113.0	101.0	105.0					1																	55464936		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55464936T>A	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.77T>A	1.37:g.55464936T>A	ENSP00000360312:p.Met26Lys						p.M26K	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			1	320	+			26			Helical; (Potential).		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.77T>A	CCDS602.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188269	0.78789	.	.	ENSG00000162399	ENST00000371265	D	0.90197	-2.63	4.44	4.44	0.53790	.	0.085657	0.45361	D	0.000370	D	0.92734	0.7690	M	0.65975	2.015	0.47183	D	0.999345	D	0.55385	0.971	P	0.55455	0.776	D	0.93540	0.6877	10	0.87932	D	0	-11.867	13.6574	0.62346	0.0:0.0:0.0:1.0	.	26	Q8WZ55	BSND_HUMAN	K	26	ENSP00000360312:M26K	ENSP00000360312:M26K	M	+	2	0	BSND	55237524	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.017000	0.76399	1.781000	0.52344	0.391000	0.25812	ATG		PASS	0.612	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		42	117	42	117	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91818104	91818104	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:91818104T>A	ENST00000370425.3	-	16	2034	c.1936A>T	c.(1936-1938)Aca>Tca	p.T646S	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.T325S|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	646	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.T646S(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGAATATCTGTTTCACTGTAC	0.338																																						uc001doa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1936-1938)ACA>TCA		HFM1 protein							89.0	83.0	85.0					1																	91818104		1833	4103	5936	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818104T>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1936A>T	1.37:g.91818104T>A	ENSP00000359454:p.Thr646Ser					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.T325S|HFM1_uc010osv.1_Missense_Mutation_p.T330S	p.T646S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	16	2036	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	646			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1936A>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135523	0.21123	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.42131	0.98;0.98	5.92	4.76	0.60689	Helicase, C-terminal (3);	0.148155	0.25813	U	0.028126	T	0.11024	0.0269	N	0.03238	-0.38	0.80722	D	1	B;B	0.31383	0.321;0.081	B;B	0.39068	0.289;0.153	T	0.16012	-1.0417	10	0.15952	T	0.53	.	12.2901	0.54812	0.1271:0.0:0.0:0.8729	.	325;646	A6NGI5;A2PYH4	.;HFM1_HUMAN	S	646;325;330;679	ENSP00000359454:T646S;ENSP00000359453:T325S	ENSP00000359450:T330S	T	-	1	0	HFM1	91590692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.974000	0.56852	1.002000	0.39104	0.533000	0.62120	ACA		PASS	0.338	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		4	25	4	25	---	---	---	---
AGL	178	broad.mit.edu	37	1	100327202	100327202	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:100327202G>A	ENST00000294724.4	+	3	704	c.226G>A	c.(226-228)Gat>Aat	p.D76N	AGL_ENST00000370163.3_Missense_Mutation_p.D76N|AGL_ENST00000361302.3_Missense_Mutation_p.D60N|AGL_ENST00000370161.2_Missense_Mutation_p.D60N|AGL_ENST00000361915.3_Missense_Mutation_p.D76N|AGL_ENST00000361522.4_Missense_Mutation_p.D59N|AGL_ENST00000370165.3_Missense_Mutation_p.D76N	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	76					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.D76N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAGAGAAGATGATTCTGATAA	0.338																																						uc001dsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(226-228)GAT>AAT		amylo-1,6-glucosidase,							85.0	90.0	88.0					1																	100327202		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327202G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.226G>A	1.37:g.100327202G>A	ENSP00000294724:p.Asp76Asn					AGL_uc001dsj.1_Missense_Mutation_p.D76N|AGL_uc001dsk.1_Missense_Mutation_p.D76N|AGL_uc001dsl.1_Missense_Mutation_p.D76N|AGL_uc001dsm.1_Missense_Mutation_p.D60N|AGL_uc001dsn.1_Missense_Mutation_p.D59N	p.D76N	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	3	626	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	76			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.226G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223734	0.79576	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.73598	2.24	0.80722	D	1	P;P;D	0.63046	0.875;0.926;0.992	P;P;D	0.65684	0.666;0.749;0.937	T	0.51252	-0.8729	10	0.27785	T	0.31	.	18.5162	0.90936	0.0:0.0:1.0:0.0	.	59;60;76	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	N	76;76;76;76;60;60;59	ENSP00000355106:D76N;ENSP00000359184:D76N;ENSP00000359182:D76N;ENSP00000294724:D76N;ENSP00000354971:D60N;ENSP00000359180:D60N;ENSP00000354635:D59N	ENSP00000294724:D76N	D	+	1	0	AGL	100099790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.372000	0.80975	0.655000	0.94253	GAT		PASS	0.338	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		4	56	4	56	---	---	---	---
GPSM2	29899	broad.mit.edu	37	1	109439595	109439595	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:109439595G>A	ENST00000406462.2	+	4	939	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	GPSM2_ENST00000264126.3_Missense_Mutation_p.E56K|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	56					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.E49K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AGTTGGAACTGAAGACCTAAA	0.433																																						uc010ovc.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(166-168)GAA>AAA		LGN protein							160.0	162.0	161.0					1																	109439595		2203	4300	6503	SO:0001583	missense	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109439595G>A	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.166G>A	1.37:g.109439595G>A	ENSP00000385510:p.Glu56Lys					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.E56K|GPSM2_uc010ove.1_Missense_Mutation_p.E56K	p.E56K	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	3	662	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	56			TPR 1.		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	c.166G>A	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	37	6.227837	0.97394	.	.	ENSG00000121957	ENST00000406462;ENST00000435987;ENST00000264126;ENST00000435475	D;T;D	0.93953	-3.32;-0.89;-3.32	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	L	0.61218	1.895	0.80722	D	1	P	0.44139	0.827	B	0.37239	0.244	D	0.91544	0.5252	10	0.62326	D	0.03	-30.3463	19.6345	0.95724	0.0:0.0:1.0:0.0	.	56	P81274	GPSM2_HUMAN	K	56	ENSP00000385510:E56K;ENSP00000408664:E56K;ENSP00000264126:E56K	ENSP00000264126:E56K	E	+	1	0	GPSM2	109241118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.641000	0.89580	0.655000	0.94253	GAA		PASS	0.433	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		5	105	5	105	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145537822	145537822	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:145537822G>C	ENST00000369304.3	+	21	2835	c.2660G>C	c.(2659-2661)gGa>gCa	p.G887A	ITGA10_ENST00000539363.1_Missense_Mutation_p.G744A|ITGA10_ENST00000538811.1_Missense_Mutation_p.G756A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	887					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.G887A(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCAGACTGGAGCCAAGGTG	0.612																																						uc001eoa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(2659-2661)GGA>GCA		integrin, alpha 10 precursor							49.0	52.0	51.0					1																	145537822		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145537822G>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2660G>C	1.37:g.145537822G>C	ENSP00000358310:p.Gly887Ala					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.G756A|ITGA10_uc009wiw.2_Missense_Mutation_p.G744A|ITGA10_uc010oyw.1_Missense_Mutation_p.G832A	p.G887A	NM_003637	NP_003628	O75578	ITA10_HUMAN			21	2736	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		887			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2660G>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102120	0.37048	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.56103	0.48;0.48;0.48	5.71	4.79	0.61399	Integrin alpha-2 (1);	0.287357	0.35179	N	0.003397	T	0.32941	0.0846	L	0.43152	1.355	0.38326	D	0.943661	B;B;P;B	0.45283	0.222;0.222;0.855;0.066	B;B;B;B	0.41946	0.209;0.096;0.371;0.217	T	0.26121	-1.0112	10	0.49607	T	0.09	.	12.6539	0.56776	0.0805:0.0:0.9195:0.0	.	853;756;744;887	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	A	887;853;744;756	ENSP00000358310:G887A;ENSP00000439894:G744A;ENSP00000440011:G756A	ENSP00000358310:G887A	G	+	2	0	ITGA10	144249179	0.989000	0.36119	0.982000	0.44146	0.929000	0.56500	2.416000	0.44644	1.420000	0.47138	-0.150000	0.13652	GGA		PASS	0.612	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		18	126	18	126	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152323611	152323611	+	Silent	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:152323611C>T	ENST00000388718.5	-	3	6723	c.6651G>A	c.(6649-6651)ggG>ggA	p.G2217G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2217					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2217G(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCTGTCTCCCATGACCTG	0.522																																						uc001ezw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6649-6651)GGG>GGA		filaggrin family member 2							443.0	390.0	408.0					1																	152323611		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152323611C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6651G>A	1.37:g.152323611C>T						uc001ezv.2_Intron	p.G2217G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6724	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2217					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6651G>A	CCDS30861.1																																																																																				PASS	0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	861	9	861	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152326558	152326558	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:152326558C>G	ENST00000388718.5	-	3	3776	c.3704G>C	c.(3703-3705)aGa>aCa	p.R1235T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1235	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1235T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTTCCTGTCTCCCATGAAC	0.483																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3703-3705)AGA>ACA		filaggrin family member 2							202.0	191.0	195.0					1																	152326558		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326558C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3704G>C	1.37:g.152326558C>G	ENSP00000373370:p.Arg1235Thr					uc001ezv.2_Intron	p.R1235T	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3777	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1235			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3704G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870715	0.17322	.	.	ENSG00000143520	ENST00000388718	T	0.39592	1.07	2.84	1.9	0.25705	.	.	.	.	.	T	0.18467	0.0443	M	0.73962	2.25	0.09310	N	1	B	0.33883	0.43	B	0.35770	0.21	T	0.27773	-1.0064	9	0.13470	T	0.59	-9.5535	5.5218	0.16938	0.0:0.8356:0.0:0.1644	.	1235	Q5D862	FILA2_HUMAN	T	1235	ENSP00000373370:R1235T	ENSP00000373370:R1235T	R	-	2	0	FLG2	150593182	0.005000	0.15991	0.003000	0.11579	0.076000	0.17211	-0.075000	0.11431	0.528000	0.28580	0.306000	0.20318	AGA		PASS	0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	355	7	355	---	---	---	---
TMEM79	84283	broad.mit.edu	37	1	156255757	156255757	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:156255757C>G	ENST00000405535.2	+	2	911	c.740C>G	c.(739-741)aCc>aGc	p.T247S	TMEM79_ENST00000295694.5_Missense_Mutation_p.T247S|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	247					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.T247S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GTCTTTGCCACCTTCCCCATT	0.602																																						uc010phi.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(739-741)ACC>AGC		transmembrane protein 79							102.0	104.0	103.0					1																	156255757		2203	4299	6502	SO:0001583	missense	84283					integral to membrane		g.chr1:156255757C>G	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.740C>G	1.37:g.156255757C>G	ENSP00000384748:p.Thr247Ser					TMEM79_uc001fod.2_Missense_Mutation_p.T88S|TMEM79_uc009wrw.2_Missense_Mutation_p.T247S	p.T247S	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			2	936	+	Hepatocellular(266;0.158)		247			Helical; (Potential).		B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.740C>G	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670740	0.67814	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.46451	0.87;0.87	5.38	5.38	0.77491	.	0.337771	0.30959	N	0.008531	T	0.17238	0.0414	L	0.27053	0.805	0.27858	N	0.940516	B	0.18166	0.026	B	0.20384	0.029	T	0.04509	-1.0946	10	0.23302	T	0.38	-9.7129	17.7089	0.88316	0.0:1.0:0.0:0.0	.	247	Q9BSE2	TMM79_HUMAN	S	247	ENSP00000295694:T247S;ENSP00000384748:T247S	ENSP00000295694:T247S	T	+	2	0	TMEM79	154522381	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	3.521000	0.53472	2.487000	0.83934	0.561000	0.74099	ACC		PASS	0.602	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		11	463	11	463	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157738319	157738319	+	Silent	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:157738319C>G	ENST00000361516.3	-	5	816	c.768G>C	c.(766-768)ctG>ctC	p.L256L	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Silent_p.L256L|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	256	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.L256L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTCTGCTGACAGGGAACGCT	0.532																																						uc001fre.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(766-768)CTG>CTC		Fc receptor-like 2 precursor							191.0	188.0	189.0					1																	157738319		2203	4300	6503	SO:0001819	synonymous_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157738319C>G	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.768G>C	1.37:g.157738319C>G						FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L256L|FCRL2_uc009wsp.2_Intron	p.L256L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	827	-	all_hematologic(112;0.0378)		256			Ig-like C2-type 3.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.768G>C	CCDS1168.1																																																																																				PASS	0.532	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		148	222	148	222	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183520990	183520990	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:183520990C>T	ENST00000347615.2	+	22	3457	c.3338C>T	c.(3337-3339)tCt>tTt	p.S1113F	SMG7_ENST00000508461.1_Missense_Mutation_p.S1121F|SMG7_ENST00000515829.2_Missense_Mutation_p.S1067F|SMG7_ENST00000367537.3_Missense_Mutation_p.S1146F|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000456731.2_Missense_Mutation_p.S1025F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1113					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S1113F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCTGGACCTTCTGCTCTGGAG	0.498																																						uc001gqg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(3337-3339)TCT>TTT		SMG-7 homolog isoform 1							116.0	91.0	99.0					1																	183520990		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183520990C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3338C>T	1.37:g.183520990C>T	ENSP00000340766:p.Ser1113Phe					SMG7_uc001gqf.2_Intron|SMG7_uc001gqh.2_Missense_Mutation_p.S1067F|SMG7_uc001gqi.2_Missense_Mutation_p.S1025F|SMG7_uc010poc.1_Missense_Mutation_p.S1121F	p.S1113F	NM_173156	NP_775179	Q92540	SMG7_HUMAN			22	3460	+			1113					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.3338C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577577	0.65878	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000515829	T;T;T;T;T	0.31247	1.52;1.54;1.53;1.57;1.5	5.61	5.61	0.85477	.	.	.	.	.	T	0.47210	0.1433	L	0.29908	0.895	0.58432	D	0.999997	D;B;D;B	0.71674	0.998;0.259;0.964;0.296	D;B;P;B	0.78314	0.991;0.145;0.547;0.154	T	0.44937	-0.9295	9	0.87932	D	0	77.1134	20.0018	0.97417	0.0:1.0:0.0:0.0	.	1121;1025;1067;1113	E9PCI0;E9PCE5;Q92540-2;Q92540	.;.;.;SMG7_HUMAN	F	1025;1146;1121;1113;1067	ENSP00000407629:S1025F;ENSP00000356507:S1146F;ENSP00000426915:S1121F;ENSP00000340766:S1113F;ENSP00000421358:S1067F	ENSP00000340766:S1113F	S	+	2	0	SMG7	181787613	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.405000	0.59741	2.793000	0.96121	0.655000	0.94253	TCT		PASS	0.498	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		6	68	6	68	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210010489	210010489	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:210010489G>T	ENST00000491415.2	+	6	1052	c.995G>T	c.(994-996)cGc>cTc	p.R332L		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	332					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R332L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AATAGCAGACGCCGAAGCCAG	0.512																																						uc001hhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(994-996)CGC>CTC		digestive-organ expansion factor homolog							50.0	43.0	45.0					1																	210010489		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210010489G>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.995G>T	1.37:g.210010489G>T	ENSP00000419005:p.Arg332Leu					C1orf107_uc009xcu.1_Missense_Mutation_p.R47L	p.R332L	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	6	1071	+			332					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.995G>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770514	0.15983	.	.	ENSG00000117597	ENST00000491415	T	0.36699	1.24	5.91	3.07	0.35406	.	0.461717	0.25552	N	0.029898	T	0.05044	0.0135	N	0.00019	-2.785	0.19300	N	0.999971	B	0.10296	0.003	B	0.12837	0.008	T	0.41431	-0.9509	10	0.02654	T	1	-2.9478	9.5369	0.39229	0.3302:0.0:0.6698:0.0	.	332	Q68CQ4	DIEXF_HUMAN	L	332	ENSP00000419005:R332L	ENSP00000419005:R332L	R	+	2	0	DIEXF	208077112	0.078000	0.21339	0.869000	0.34112	0.980000	0.70556	2.254000	0.43214	0.424000	0.26061	-0.122000	0.15005	CGC		PASS	0.512	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		10	36	10	36	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237048463	237048463	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:237048463G>C	ENST00000366577.5	+	26	3113	c.2719G>C	c.(2719-2721)Gag>Cag	p.E907Q	MTR_ENST00000535889.1_Missense_Mutation_p.E856Q	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	907	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E907Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGAATACTTTGAGGAAATCAT	0.348																																						uc001hyi.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2719-2721)GAG>CAG		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						101.0	103.0	102.0					1																	237048463		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237048463G>C	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2719G>C	1.37:g.237048463G>C	ENSP00000355536:p.Glu907Gln					MTR_uc010pxw.1_Missense_Mutation_p.E500Q|MTR_uc010pxx.1_Missense_Mutation_p.E856Q|MTR_uc010pxy.1_Missense_Mutation_p.E761Q	p.E907Q	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	26	3142	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	907			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.2719G>C	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341914	0.61073	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.72835	-0.69;-0.69;-0.69	5.99	5.99	0.97316	Cobalamin (vitamin B12)-binding (3);	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	L	0.46157	1.445	0.49299	D	0.999778	B;B;B	0.33345	0.245;0.409;0.245	B;B;B	0.38327	0.271;0.271;0.271	T	0.63994	-0.6511	10	0.26408	T	0.33	-30.2733	20.4777	0.99188	0.0:0.0:1.0:0.0	.	907;856;907	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	Q	761;907;856;461	ENSP00000355536:E907Q;ENSP00000441845:E856Q;ENSP00000355535:E461Q	ENSP00000355535:E461Q	E	+	1	0	MTR	235115086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.034000	0.93747	2.840000	0.97914	0.655000	0.94253	GAG		PASS	0.348	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		3	71	3	71	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004586	248004586	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:248004586C>A	ENST00000355784.2	-	1	668	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	205						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A205S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACAGCACGGCAATTGACAGG	0.478																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(613-615)GCC>TCC		olfactory receptor, family 11, subfamily L,							90.0	92.0	91.0					1																	248004586		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004586C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.613G>T	1.37:g.248004586C>A	ENSP00000348033:p.Ala205Ser						p.A205S	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	613	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		205			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.613G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399533	0.25291	.	.	ENSG00000197591	ENST00000355784	T	0.37058	1.22	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	U	0.004118	T	0.25494	0.0620	N	0.17312	0.475	0.09310	N	1	P	0.42993	0.797	P	0.47346	0.544	T	0.04495	-1.0947	10	0.46703	T	0.11	.	5.0642	0.14574	0.0:0.5142:0.2962:0.1896	.	205	Q8NGX0	O11L1_HUMAN	S	205	ENSP00000348033:A205S	ENSP00000348033:A205S	A	-	1	0	OR11L1	246071209	0.000000	0.05858	0.013000	0.15412	0.246000	0.25737	-0.791000	0.04599	1.145000	0.42336	0.543000	0.68304	GCC		PASS	0.478	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		91	127	91	127	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25048948	25048948	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:25048948A>G	ENST00000260600.5	-	15	3394	c.2543T>C	c.(2542-2544)cTc>cCc	p.L848P	ADCY3_ENST00000405392.1_Missense_Mutation_p.L435P|ADCY3_ENST00000450524.1_5'Flank|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	848					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.L848P(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGCATCATGAGGAACACCAT	0.617																																						uc002rfs.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(2542-2544)CTC>CCC		adenylate cyclase 3							133.0	100.0	111.0					2																	25048948		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25048948A>G	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2543T>C	2.37:g.25048948A>G	ENSP00000260600:p.Leu848Pro					ADCY3_uc002rfr.3_Missense_Mutation_p.L435P|ADCY3_uc010ykm.1_Missense_Mutation_p.L849P	p.L848P	NM_004036	NP_004027	O60266	ADCY3_HUMAN			15	2742	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		848			Helical; (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2543T>C	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003185	0.54254	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323	T;T;T	0.73681	-0.77;-0.77;-0.77	5.3	5.3	0.74995	.	0.671184	0.15737	N	0.247106	T	0.65698	0.2716	N	0.19112	0.55	0.53005	D	0.999969	B;B;P	0.35011	0.088;0.027;0.48	B;B;B	0.38755	0.048;0.027;0.281	T	0.68872	-0.5294	10	0.72032	D	0.01	.	14.2811	0.66213	1.0:0.0:0.0:0.0	.	849;848;435	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	P	848;435;823;188	ENSP00000260600:L848P;ENSP00000384484:L435P;ENSP00000402008:L188P	ENSP00000260600:L848P	L	-	2	0	ADCY3	24902452	1.000000	0.71417	0.895000	0.35142	0.597000	0.36814	8.712000	0.91403	2.023000	0.59567	0.456000	0.33151	CTC		PASS	0.617	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			25	40	25	40	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25061355	25061355	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:25061355C>G	ENST00000260600.5	-	7	2343	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	ADCY3_ENST00000405392.1_Missense_Mutation_p.E131Q	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	498					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E498Q(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTCTTCACCTCTGGCTTGGAG	0.582																																						uc002rfs.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1492-1494)GAG>CAG		adenylate cyclase 3							138.0	131.0	133.0					2																	25061355		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061355C>G	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1492G>C	2.37:g.25061355C>G	ENSP00000260600:p.Glu498Gln					ADCY3_uc002rfr.3_Missense_Mutation_p.E131Q|ADCY3_uc010ykm.1_Missense_Mutation_p.E498Q	p.E498Q	NM_004036	NP_004027	O60266	ADCY3_HUMAN			7	1691	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		498			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1492G>C	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.546747	0.45383	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;D;T;T;T	0.81579	-1.41;-1.51;-1.44;-1.38;-0.97	4.77	3.85	0.44370	.	0.321368	0.23261	N	0.050122	T	0.62109	0.2401	N	0.08118	0	0.30435	N	0.776746	B;B;B	0.23316	0.047;0.047;0.083	B;B;B	0.23275	0.03;0.03;0.045	T	0.57447	-0.7810	10	0.22706	T	0.39	.	12.942	0.58350	0.0:0.837:0.163:0.0	.	498;498;131	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	Q	498;131;473;124;254;448	ENSP00000260600:E498Q;ENSP00000384484:E131Q;ENSP00000410120:E124Q;ENSP00000399275:E254Q;ENSP00000389799:E448Q	ENSP00000260600:E498Q	E	-	1	0	ADCY3	24914859	0.291000	0.24352	0.986000	0.45419	0.992000	0.81027	1.752000	0.38349	2.452000	0.82932	0.655000	0.94253	GAG		PASS	0.582	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			4	198	4	198	---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54024926	54024926	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:54024926G>C	ENST00000185150.4	+	5	615	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.E162Q|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.E162Q	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	162	PRKCSH 1.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.E162Q(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CCTTCTATTTGAAAAAGGTTG	0.289																																						uc002rxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(484-486)GAA>CAA		erlectin isoform 1							140.0	150.0	147.0					2																	54024926		2203	4300	6503	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54024926G>C	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.484G>C	2.37:g.54024926G>C	ENSP00000185150:p.Glu162Gln					ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.E162Q|ERLEC1_uc002rxn.2_Missense_Mutation_p.E162Q	p.E162Q	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			5	764	+			162			PRKCSH 1.		B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.484G>C	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413306	0.42817	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.46819	0.86;0.87	4.83	4.83	0.62350	Glucosidase II beta subunit-like (1);	0.297460	0.34110	U	0.004260	T	0.38241	0.1033	.	.	.	0.54753	D	0.999985	B;B;B	0.26363	0.016;0.095;0.147	B;B;B	0.29785	0.014;0.064;0.107	T	0.15407	-1.0438	9	0.19590	T	0.45	-18.4797	16.4635	0.84071	0.0:0.0:1.0:0.0	.	162;162;162	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	Q	162	ENSP00000385629:E162Q;ENSP00000185150:E162Q	ENSP00000185150:E162Q	E	+	1	0	ERLEC1	53878430	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.025000	0.70864	2.392000	0.81423	0.446000	0.29264	GAA		PASS	0.289	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		3	160	3	160	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96969005	96969005	+	Silent	SNP	C	C	A	rs115907254	byFrequency	TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:96969005C>A	ENST00000323853.5	-	3	350	c.273G>T	c.(271-273)tcG>tcT	p.S91S	SNRNP200_ENST00000349783.5_Silent_p.S91S	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	91					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.S91S(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAATGCCCTCCGACAGCAGAG	0.488																																						uc002svu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|large_intestine(1)	10						c.(271-273)TCG>TCT		activating signal cointegrator 1 complex subunit							356.0	347.0	350.0					2																	96969005		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96969005C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.273G>T	2.37:g.96969005C>A							p.S91S	NM_014014	NP_054733	O75643	U520_HUMAN			3	359	-			91					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.273G>T	CCDS2020.1																																																																																				PASS	0.488	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	818	5	818	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99013095	99013095	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:99013095G>A	ENST00000272602.2	+	7	1501	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T	CNGA3_ENST00000436404.2_Missense_Mutation_p.A470T|CNGA3_ENST00000393504.1_Missense_Mutation_p.A488T|CNGA3_ENST00000409937.1_Missense_Mutation_p.A492T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	488					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.A488T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGACTGTGAGGCAGGGCTGCT	0.557																																						uc002syt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1462-1464)GCA>ACA		cyclic nucleotide gated channel alpha 3 isoform							63.0	57.0	59.0					2																	99013095		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013095G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1462G>A	2.37:g.99013095G>A	ENSP00000272602:p.Ala488Thr					CNGA3_uc002syu.2_Missense_Mutation_p.A470T|CNGA3_uc010fij.2_Missense_Mutation_p.A492T	p.A488T	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	1879	+			488			cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1462G>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015453	0.75161	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08	4.92	4.92	0.64577	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	M	0.83118	2.625	0.80722	D	1	P;D;P	0.63046	0.944;0.992;0.653	P;D;B	0.63703	0.76;0.917;0.231	D	0.97093	0.9792	10	0.28530	T	0.3	.	17.1129	0.86680	0.0:0.0:1.0:0.0	.	492;470;488	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	T	488;470;488;492	ENSP00000377140:A488T;ENSP00000410070:A470T;ENSP00000272602:A488T;ENSP00000386761:A492T	ENSP00000272602:A488T	A	+	1	0	CNGA3	98379527	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	9.260000	0.95568	2.567000	0.86603	0.558000	0.71614	GCA		PASS	0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		6	53	6	53	---	---	---	---
IHH	3549	broad.mit.edu	37	2	219920495	219920495	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:219920495T>C	ENST00000295731.6	-	3	669	c.670A>G	c.(670-672)Agg>Ggg	p.R224G	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	224					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)	p.R224G(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCCGGCCTCACGGCTGAC	0.677																																						uc002vjo.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(670-672)AGG>GGG		Indian hedgehog homolog precursor							37.0	41.0	40.0					2																	219920495		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920495T>C	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.670A>G	2.37:g.219920495T>C	ENSP00000295731:p.Arg224Gly						p.R224G	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	670	-		Renal(207;0.0915)	224					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.670A>G	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769659	0.31320	.	.	ENSG00000163501	ENST00000295731	D	0.98958	-5.27	5.18	-0.304	0.12788	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.307267	0.35615	N	0.003097	D	0.97607	0.9216	M	0.80616	2.505	0.35915	D	0.831368	B	0.32010	0.351	B	0.31390	0.129	D	0.95565	0.8633	10	0.56958	D	0.05	0.1865	16.2366	0.82380	0.0:0.0:0.6544:0.3456	.	224	Q14623	IHH_HUMAN	G	224	ENSP00000295731:R224G	ENSP00000295731:R224G	R	-	1	2	IHH	219628739	0.205000	0.23458	0.119000	0.21687	0.467000	0.32768	0.702000	0.25631	-0.032000	0.13758	-0.396000	0.06452	AGG		PASS	0.677	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		4	104	4	104	---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220047043	220047043	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:220047043C>G	ENST00000430297.2	+	9	1460	c.1324C>G	c.(1324-1326)Ctc>Gtc	p.L442V		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	442						integral component of membrane (GO:0016021)		p.L442V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTGGTGGCCTCACTGCTCT	0.622																																						uc002vjw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1324-1326)CTC>GTC		hypothetical protein LOC79137							99.0	103.0	102.0					2																	220047043		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220047043C>G	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1324C>G	2.37:g.220047043C>G	ENSP00000395249:p.Leu442Val					FAM134A_uc010fwc.2_Missense_Mutation_p.L235V|FAM134A_uc002vjx.2_Intron	p.L442V	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1460	+		Renal(207;0.0915)	442					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1324C>G	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	4.605	0.112496	0.08831	.	.	ENSG00000144567	ENST00000430297	T	0.33438	1.41	5.26	3.46	0.39613	.	0.184716	0.38058	N	0.001826	T	0.19046	0.0457	L	0.36672	1.1	0.31164	N	0.704019	B	0.09022	0.002	B	0.04013	0.001	T	0.12656	-1.0539	9	.	.	.	-2.2718	3.872	0.09041	0.2817:0.5156:0.1205:0.0822	.	442	Q8NC44	F134A_HUMAN	V	442	ENSP00000395249:L442V	.	L	+	1	0	FAM134A	219755287	1.000000	0.71417	0.889000	0.34880	0.148000	0.21650	2.807000	0.47955	0.786000	0.33708	-0.136000	0.14681	CTC		PASS	0.622	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		94	176	94	176	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220164096	220164096	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:220164096G>T	ENST00000295718.2	-	11	1774	c.1534C>A	c.(1534-1536)Cca>Aca	p.P512T	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P422T|PTPRN_ENST00000409251.3_Missense_Mutation_p.P483T|PTPRN_ENST00000497977.1_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	512					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P512T(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTGAGGGCTGGTCCCACCACA	0.557											OREG0015221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1534-1536)CCA>ACA		protein tyrosine phosphatase, receptor type, N							148.0	137.0	141.0					2																	220164096		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164096G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1534C>A	2.37:g.220164096G>T	ENSP00000295718:p.Pro512Thr		OREG0015221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2264	PTPRN_uc010zlc.1_Missense_Mutation_p.P422T|PTPRN_uc002vla.2_Missense_Mutation_p.P483T	p.P512T	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	11	1623	-		Renal(207;0.0474)	512			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1534C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134272	0.56828	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03860	3.93;3.79;3.78	5.44	4.37	0.52481	.	0.084808	0.47093	D	0.000259	T	0.09158	0.0226	L	0.58810	1.83	0.43508	D	0.995768	P;B	0.43578	0.811;0.368	P;B	0.45660	0.489;0.217	T	0.01051	-1.1468	10	0.72032	D	0.01	.	11.3622	0.49651	0.1579:0.0:0.8421:0.0	.	483;512	Q6NSL1;Q16849	.;PTPRN_HUMAN	T	483;512;483;422	ENSP00000386638:P483T;ENSP00000295718:P512T;ENSP00000444244:P422T	ENSP00000295718:P512T	P	-	1	0	PTPRN	219872340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.273000	0.58914	2.541000	0.85698	0.561000	0.74099	CCA		PASS	0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			7	164	7	164	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227985759	227985759	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:227985759G>A	ENST00000396625.3	-	5	505	c.298C>T	c.(298-300)Cct>Tct	p.P100S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P100S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	100	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P100S(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCTGCTCCAGGAGGGCCGCGG	0.542																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(298-300)CCT>TCT		alpha 4 type IV collagen precursor							96.0	95.0	96.0					2																	227985759		1917	4119	6036	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227985759G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.298C>T	2.37:g.227985759G>A	ENSP00000379866:p.Pro100Ser						p.P100S	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	5	952	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	100			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.298C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641764	0.67244	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96587	-4.06;-4.06	4.82	3.88	0.44766	.	.	.	.	.	D	0.95639	0.8582	L	0.42686	1.345	0.45621	D	0.998553	P	0.47409	0.895	P	0.52598	0.703	D	0.95205	0.8320	9	0.46703	T	0.11	.	14.4606	0.67445	0.0:0.1479:0.8521:0.0	.	100	P53420	CO4A4_HUMAN	S	100	ENSP00000379866:P100S;ENSP00000328553:P100S	ENSP00000328553:P100S	P	-	1	0	COL4A4	227694003	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	3.670000	0.54569	2.219000	0.72066	0.455000	0.32223	CCT		PASS	0.542	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		16	96	16	96	---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238443205	238443205	+	Splice_Site	SNP	A	A	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr2:238443205A>C	ENST00000264605.3	+	9	1314		c.e9-1		MLPH_ENST00000338530.4_Intron|MLPH_ENST00000468178.1_Intron|MLPH_ENST00000445024.2_Splice_Site|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000409373.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin						melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTTCTGCTGCAGATCTTTGAG	0.537																																						uc002vwt.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e9-2		melanophilin isoform 1							116.0	108.0	111.0					2																	238443205		2203	4300	6503	SO:0001630	splice_region_variant	79083						metal ion binding	g.chr2:238443205A>C	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1021-1A>C	2.37:g.238443205A>C						MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Splice_Site_p.I93_splice	p.I341_splice	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	9	1248	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)						B3KSS2|B4DKW7|G5E9G5|Q9HA71	Splice_Site	SNP	ENST00000264605.3	37	c.1021_splice	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079864	0.36662	.	.	ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000437893;ENST00000415753	.	.	.	4.07	1.66	0.24008	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7108	0.23276	0.7936:0.0:0.2064:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLPH	238107944	0.994000	0.37717	0.010000	0.14722	0.922000	0.55478	3.384000	0.52478	0.163000	0.19507	0.533000	0.62120	.		PASS	0.537	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101	Intron	41	118	41	118	---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134278014	134278014	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr3:134278014C>T	ENST00000337090.3	+	14	1869	c.1696C>T	c.(1696-1698)Cat>Tat	p.H566Y	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.H566Y|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.H566Y|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	566					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.H566Y(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAGCACAGACATGATGGAAT	0.408																																						uc003eqo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1696-1698)CAT>TAT		centrosomal protein 63 isoform a							119.0	119.0	119.0					3																	134278014		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278014C>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1696C>T	3.37:g.134278014C>T	ENSP00000336524:p.His566Tyr					CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	p.H566Y	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			15	2145	+			566					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1696C>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949946	0.34377	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.17854	2.25;2.25	4.77	2.93	0.34026	.	1.182510	0.06102	N	0.665526	T	0.23492	0.0568	L	0.51422	1.61	0.29587	N	0.848694	P	0.35575	0.51	B	0.41036	0.346	T	0.30297	-0.9983	10	0.44086	T	0.13	-0.0653	10.1493	0.42782	0.363:0.637:0.0:0.0	.	566	Q96MT8	CEP63_HUMAN	Y	566	ENSP00000336524:H566Y;ENSP00000426129:H566Y	ENSP00000336524:H566Y	H	+	1	0	CEP63	135760704	0.991000	0.36638	0.985000	0.45067	0.969000	0.65631	2.143000	0.42187	0.682000	0.31407	-0.175000	0.13238	CAT		PASS	0.408	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		12	231	12	231	---	---	---	---
ZNF718	255403	broad.mit.edu	37	4	155125	155125	+	lincRNA	SNP	A	A	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr4:155125A>G	ENST00000510175.1	+	0	560							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CTTACTAAACATAAGAGAATT	0.383																																						uc003fzt.3																			0					0						c.(649-651)CAT>CGT		zinc finger protein 718							25.0	28.0	27.0					4																	155125		2093	4261	6354			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155125A>G	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155125A>G						ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR	p.H217R	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	783	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	217			C2H2-type 2.		Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37	c.650A>G																																																																																					PASS	0.383	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		10	4	10	4	---	---	---	---
BLOC1S4	55330	broad.mit.edu	37	4	6718352	6718352	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr4:6718352A>G	ENST00000320776.3	+	1	511	c.416A>G	c.(415-417)gAg>gGg	p.E139G		NM_018366.2	NP_060836.1	Q9NUP1	BL1S4_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	139					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|platelet aggregation (GO:0070527)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E139G(1)									GACCGGCTGGAGGCCTTCGTG	0.697																																						uc003gjp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GAG>GGG		cappuccino																																				SO:0001583	missense	55330				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol		g.chr4:6718352A>G	BC001818	CCDS3393.1	4p16.1	2012-08-01	2012-08-01	2012-08-01	ENSG00000186222	ENSG00000186222		"""Biogenesis of lysosomal organelles complex-1 subunits"""	24206	protein-coding gene	gene with protein product		605695	"""cappuccino homolog (mouse)"""	CNO		12576321, 11110696	Standard	NM_018366		Approved	FLJ11230, BCAS4L	uc003gjp.1	Q9NUP1	OTTHUMG00000125510	ENST00000320776.3:c.416A>G	4.37:g.6718352A>G	ENSP00000318128:p.Glu139Gly						p.E139G	NM_018366	NP_060836	Q9NUP1	CNO_HUMAN		Colorectal(103;0.0523)	1	511	+			139			Potential.		Q6NVY6|Q96G84	Missense_Mutation	SNP	ENST00000320776.3	37	c.416A>G	CCDS3393.1	.	.	.	.	.	.	.	.	.	.	A	31	5.059316	0.93846	.	.	ENSG00000186222	ENST00000320776	T	0.64991	-0.13	4.58	4.58	0.56647	.	0.103999	0.64402	D	0.000004	T	0.77824	0.4188	M	0.83384	2.64	0.58432	D	0.999998	D	0.76494	0.999	D	0.69479	0.964	T	0.81011	-0.1126	10	0.87932	D	0	-35.243	10.676	0.45787	1.0:0.0:0.0:0.0	.	139	Q9NUP1	CNO_HUMAN	G	139	ENSP00000318128:E139G	ENSP00000318128:E139G	E	+	2	0	CNO	6769253	1.000000	0.71417	0.975000	0.42487	0.990000	0.78478	6.443000	0.73447	1.846000	0.53633	0.459000	0.35465	GAG		PASS	0.697	BLOC1S4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246837.1	NM_018366		3	8	3	8	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17829940	17829940	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr4:17829940T>C	ENST00000251496.2	+	12	1869	c.1693T>C	c.(1693-1695)Tat>Cat	p.Y565H		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	565					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Y565H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TATTTTATGCTATGAACTGTT	0.348																																						uc003gpp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1693-1695)TAT>CAT		chromosome condensation protein G							146.0	142.0	143.0					4																	17829940		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17829940T>C	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1693T>C	4.37:g.17829940T>C	ENSP00000251496:p.Tyr565His					NCAPG_uc011bxj.1_Missense_Mutation_p.Y74H	p.Y565H	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	12	1869	+			565					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1693T>C	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	T	7.321	0.616881	0.14129	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.42513	0.97;0.97	5.01	2.57	0.30868	Armadillo-type fold (1);	0.367799	0.30809	N	0.008838	T	0.25494	0.0620	L	0.38531	1.155	0.31055	N	0.714729	B	0.15719	0.014	B	0.16722	0.016	T	0.19321	-1.0309	10	0.15066	T	0.55	-5.8897	3.6119	0.08063	0.2451:0.2259:0.0:0.529	.	565	Q9BPX3	CND3_HUMAN	H	565;130	ENSP00000251496:Y565H;ENSP00000425625:Y130H	ENSP00000251496:Y565H	Y	+	1	0	NCAPG	17439038	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	1.797000	0.38804	0.261000	0.21753	-0.361000	0.07541	TAT		PASS	0.348	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		3	52	3	52	---	---	---	---
PRMT9	90826	broad.mit.edu	37	4	148582038	148582038	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr4:148582038C>G	ENST00000322396.6	-	7	1347	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.E256Q	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		369	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.E369Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCAAAGCACTCTGTCAAAGCC	0.328																																						uc003ilc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1105-1107)GAG>CAG		protein arginine methyltransferase 10							78.0	80.0	79.0					4																	148582038		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148582038C>G																												ENST00000322396.6:c.1105G>C	4.37:g.148582038C>G	ENSP00000314396:p.Glu369Gln					PRMT10_uc003ilb.2_Missense_Mutation_p.E13Q|PRMT10_uc003ild.2_Missense_Mutation_p.E256Q	p.E369Q	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			7	1247	-			369					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1105G>C	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565822	0.27915	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.24538	1.85;1.85	5.29	3.5	0.40072	.	0.393192	0.28538	N	0.014987	T	0.14270	0.0345	N	0.20483	0.58	0.36553	D	0.871999	B	0.17667	0.023	B	0.17722	0.019	T	0.12066	-1.0562	10	0.27785	T	0.31	-5.9052	6.8516	0.24018	0.0:0.575:0.2869:0.1382	.	369	Q6P2P2	ANM10_HUMAN	Q	369;256	ENSP00000314396:E369Q;ENSP00000439508:E256Q	ENSP00000314396:E369Q	E	-	1	0	PRMT10	148801488	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	1.304000	0.33482	1.319000	0.45190	0.655000	0.94253	GAG		PASS	0.328	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			3	48	3	48	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67569222	67569222	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr5:67569222G>C	ENST00000521381.1	+	3	955	c.339G>C	c.(337-339)ttG>ttC	p.L113F	PIK3R1_ENST00000396611.1_Missense_Mutation_p.L113F|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L113F|PIK3R1_ENST00000521657.1_Missense_Mutation_p.L113F	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	113	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(2)|p.L113F(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTGCAGCTTTGACTCTCCCGG	0.423			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		4	Unknown(2)|Substitution - Missense(1)|Whole gene deletion(1)	p.?(2)	lung(2)|large_intestine(1)|breast(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(337-339)TTG>TTC		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						226.0	234.0	231.0					5																	67569222		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67569222G>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.339G>C	5.37:g.67569222G>C	ENSP00000428056:p.Leu113Phe	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.L113F	p.L113F	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	3	899	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	113			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.339G>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825515	0.32237	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.73152	-0.44;-0.44;-0.31;-0.44;-0.72	5.76	-0.965	0.10323	Rho GTPase-activating protein domain (1);	0.474498	0.23328	N	0.049373	T	0.34658	0.0905	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20638	-1.0269	10	0.29301	T	0.29	-0.0197	4.2069	0.10493	0.0794:0.3824:0.269:0.2692	.	113	P27986	P85A_HUMAN	F	113;113;113;113;15	ENSP00000428056:L113F;ENSP00000429277:L113F;ENSP00000379855:L113F;ENSP00000274335:L113F;ENSP00000428566:L15F	ENSP00000274335:L113F	L	+	3	2	PIK3R1	67604978	0.912000	0.30974	0.024000	0.17045	0.652000	0.38707	0.778000	0.26732	0.064000	0.16427	0.591000	0.81541	TTG		PASS	0.423	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		12	222	12	222	---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72183038	72183038	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr5:72183038C>T	ENST00000337273.5	+	12	1718	c.1292C>T	c.(1291-1293)gCa>gTa	p.A431V	TNPO1_ENST00000506351.2_Missense_Mutation_p.A423V|TNPO1_ENST00000454282.1_Missense_Mutation_p.A381V|TNPO1_ENST00000523768.1_Missense_Mutation_p.A381V	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	431					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.A423V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GTTTTAGGAGCAATTGCTGAA	0.353																																						uc003kck.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(1291-1293)GCA>GTA		transportin 1 isoform 1							95.0	93.0	93.0					5																	72183038		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72183038C>T	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1292C>T	5.37:g.72183038C>T	ENSP00000336712:p.Ala431Val					TNPO1_uc011csj.1_Missense_Mutation_p.A381V|TNPO1_uc003kch.2_Missense_Mutation_p.A423V|TNPO1_uc003kci.3_Missense_Mutation_p.A423V|TNPO1_uc003kcg.3_Missense_Mutation_p.A423V	p.A431V	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	12	1439	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	431			HEAT 4.		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1292C>T	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236576	0.95240	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.88377	2.95	0.80722	D	1	P;D	0.56035	0.951;0.974	P;P	0.59487	0.858;0.833	T	0.68454	-0.5404	10	0.62326	D	0.03	-12.5988	18.7783	0.91920	0.0:1.0:0.0:0.0	.	381;431	Q92973-3;Q92973	.;TNPO1_HUMAN	V	431;381;381;423	ENSP00000336712:A431V;ENSP00000398524:A381V;ENSP00000428899:A381V;ENSP00000425118:A423V	ENSP00000336712:A431V	A	+	2	0	TNPO1	72218794	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.442000	0.80503	2.527000	0.85204	0.555000	0.69702	GCA		PASS	0.353	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		26	42	26	42	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	80074605	80074605	+	Silent	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr5:80074605C>G	ENST00000265081.6	+	17	2465	c.2385C>G	c.(2383-2385)ctC>ctG	p.L795L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	795					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.L786L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGAATCAGCTCCGGGAGCAGC	0.393								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|breast(1)	4						c.(2383-2385)CTC>CTG	MMR	mutS homolog 3							82.0	83.0	83.0					5																	80074605		2203	4300	6503	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80074605C>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2385C>G	5.37:g.80074605C>G							p.L795L	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	17	2638	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	795					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.2385C>G	CCDS34195.1																																																																																				PASS	0.393	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		9	71	9	71	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89921057	89921057	+	Silent	SNP	C	C	T	rs374946426		TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr5:89921057C>T	ENST00000405460.2	+	6	765	c.669C>T	c.(667-669)gaC>gaT	p.D223D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	223	Calx-beta 2. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D223D(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTCGATGACGAGGTTGGCT	0.453																																						uc003kju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(667-669)GAC>GAT		G protein-coupled receptor 98 precursor		C		1,3859		0,1,1929	71.0	65.0	67.0		669	-0.9	1.0	5		67	0,8282		0,0,4141	no	coding-synonymous	GPR98	NM_032119.3		0,1,6070	TT,TC,CC		0.0,0.0259,0.0082		223/6307	89921057	1,12141	1930	4141	6071	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89921057C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.669C>T	5.37:g.89921057C>T						GPR98_uc003kjt.2_Translation_Start_Site	p.D223D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	6	765	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	223			Calx-beta 2.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.669C>T	CCDS47246.1																																																																																				PASS	0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	14	4	14	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132228778	132228778	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr5:132228778C>G	ENST00000265343.5	-	12	2719	c.2340G>C	c.(2338-2340)aaG>aaC	p.K780N	AFF4_ENST00000378595.3_Missense_Mutation_p.K780N	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	780					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K780N(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTGGGTTTCTTGCTCTCAC	0.423																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|skin(1)	5						c.(2338-2340)AAG>AAC		ALL1 fused gene from 5q31							393.0	368.0	376.0					5																	132228778		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132228778C>G	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2340G>C	5.37:g.132228778C>G	ENSP00000265343:p.Lys780Asn					AFF4_uc011cxk.1_Missense_Mutation_p.K458N|AFF4_uc003kye.1_Missense_Mutation_p.K780N	p.K780N	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	2748	-		all_cancers(142;0.145)|Breast(839;0.198)	780					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2340G>C	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600589	0.66332	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.70045	-0.45;-0.45	5.18	4.26	0.50523	.	0.270493	0.40818	N	0.001012	T	0.78723	0.4328	M	0.78916	2.43	0.58432	D	0.999997	P;D	0.62365	0.61;0.991	B;D	0.76071	0.346;0.987	T	0.78081	-0.2343	10	0.45353	T	0.12	-12.6834	8.463	0.32938	0.0:0.8827:0.0:0.1173	.	780;780	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	N	780	ENSP00000265343:K780N;ENSP00000367858:K780N	ENSP00000265343:K780N	K	-	3	2	AFF4	132256677	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	3.383000	0.52471	1.290000	0.44636	0.563000	0.77884	AAG		PASS	0.423	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		15	214	15	214	---	---	---	---
PTTG1	9232	broad.mit.edu	37	5	159854787	159854787	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr5:159854787C>T	ENST00000393964.1	+	4	839	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Missense_Mutation_p.L146F|PTTG1_ENST00000520452.1_Missense_Mutation_p.L146F	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L146F(1)		breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TGGAGTGCCTCTCATGATCCT	0.527																																						uc003lyj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)CTC>TTC		pituitary tumor-transforming protein 1							101.0	94.0	96.0					5																	159854787		2203	4300	6503	SO:0001583	missense	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159854787C>T	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.436C>T	5.37:g.159854787C>T	ENSP00000377536:p.Leu146Phe					PTTG1_uc003lyk.2_Missense_Mutation_p.L146F	p.L146F	NM_004219	NP_004210	O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	5	481	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	146						Missense_Mutation	SNP	ENST00000393964.1	37	c.436C>T	CCDS4353.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153986	0.78114	.	.	ENSG00000164611	ENST00000352433;ENST00000520452;ENST00000393964	T;T;T	0.49139	0.79;0.79;0.79	5.68	4.82	0.62117	.	0.138698	0.50627	D	0.000103	T	0.67646	0.2915	M	0.80616	2.505	0.37338	D	0.910278	D	0.89917	1.0	D	0.97110	1.0	T	0.74203	-0.3741	9	.	.	.	-15.51	10.5962	0.45338	0.0:0.9117:0.0:0.0883	.	146	O95997	PTTG1_HUMAN	F	146	ENSP00000344936:L146F;ENSP00000430642:L146F;ENSP00000377536:L146F	.	L	+	1	0	PTTG1	159787365	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.218000	0.58554	1.403000	0.46800	0.655000	0.94253	CTC		PASS	0.527	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		5	69	5	69	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31600358	31600358	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr6:31600358C>A	ENST00000376033.2	+	16	4142	c.3908C>A	c.(3907-3909)gCt>gAt	p.A1303D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A1303D	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1303	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A1303D(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CGCCGGGCAGCTGCCAAGTCT	0.612																																						uc003nvb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3907-3909)GCT>GAT		HLA-B associated transcript-2							79.0	85.0	83.0					6																	31600358		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31600358C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3908C>A	6.37:g.31600358C>A	ENSP00000365201:p.Ala1303Asp					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.A1303D	p.A1303D	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	4157	+			1303			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3908C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345341	0.24426	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01887	4.58;4.58	5.08	5.08	0.68730	.	0.000000	0.53938	D	0.000044	T	0.03915	0.0110	L	0.36672	1.1	0.40525	D	0.980876	D	0.69078	0.997	D	0.63488	0.915	T	0.51004	-0.8760	10	0.87932	D	0	-12.931	15.5008	0.75698	0.0:1.0:0.0:0.0	.	1303	P48634	PRC2A_HUMAN	D	1297;1286;1303;1303;528	ENSP00000365175:A1303D;ENSP00000365201:A1303D	ENSP00000365175:A1303D	A	+	2	0	PRRC2A	31708337	0.976000	0.34144	0.998000	0.56505	0.949000	0.60115	1.374000	0.34283	2.626000	0.88956	0.561000	0.74099	GCT		PASS	0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		4	128	4	128	---	---	---	---
TSPO2	222642	broad.mit.edu	37	6	41010825	41010825	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr6:41010825C>T	ENST00000373161.1	+	2	346	c.101C>T	c.(100-102)cCg>cTg	p.P34L	TSPO2_ENST00000470917.1_Missense_Mutation_p.P34L|TSPO2_ENST00000373158.2_Missense_Mutation_p.P34L	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	34					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)	p.P34L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGTGAGGGCCCGAGGATGCTG	0.552																																						uc003opj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)CCG>CTG		benzodiazapine receptor (peripheral)-like 1							181.0	155.0	164.0					6																	41010825		2203	4300	6503	SO:0001583	missense	222642				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	g.chr6:41010825C>T		CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.101C>T	6.37:g.41010825C>T	ENSP00000362255:p.Pro34Leu					UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Nonsense_Mutation_p.R44*|TSPO2_uc011dub.1_Missense_Mutation_p.P34L	p.P34L	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN			2	402	+			34					B2RPR2|B7ZMN8|Q3SX82	Missense_Mutation	SNP	ENST00000373161.1	37	c.101C>T	CCDS34444.1	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.348019	0.05208	.	.	ENSG00000112212	ENST00000373161;ENST00000373158;ENST00000470917	T;T;T	0.18960	2.18;2.18;2.18	4.54	-6.72	0.01755	.	0.585427	0.17625	N	0.167610	T	0.00875	0.0029	N	0.00496	-1.435	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.28427	-1.0044	10	0.07030	T	0.85	-4.5425	8.9621	0.35854	0.1219:0.1634:0.0:0.7147	.	34	Q5TGU0	TSPO2_HUMAN	L	34	ENSP00000362255:P34L;ENSP00000362252:P34L;ENSP00000419985:P34L	ENSP00000362252:P34L	P	+	2	0	TSPO2	41118803	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-0.747000	0.04823	-1.588000	0.01627	-0.266000	0.10368	CCG		PASS	0.552	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1	NM_001010873.2		5	297	5	297	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128540114	128540114	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr6:128540114G>C	ENST00000368215.3	-	6	820	c.821C>G	c.(820-822)tCa>tGa	p.S274*	PTPRK_ENST00000368207.3_Nonsense_Mutation_p.S274*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.S274*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.S274*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.S274*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.S274*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.S274*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	274	Ig-like C2-type.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S274*(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACCTCGTTCTGACTGAGTTAC	0.408																																						uc003qbk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(820-822)TCA>TGA		protein tyrosine phosphatase, receptor type, K							170.0	149.0	156.0					6																	128540114		2203	4300	6503	SO:0001587	stop_gained	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128540114G>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.821C>G	6.37:g.128540114G>C	ENSP00000357198:p.Ser274*					PTPRK_uc003qbj.2_Nonsense_Mutation_p.S274*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.S274*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.S274*|PTPRK_uc003qbl.1_Nonsense_Mutation_p.S144*|PTPRK_uc011ebv.1_Nonsense_Mutation_p.S274*	p.S274*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	6	1188	-			274			Extracellular (Potential).|Ig-like C2-type.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37	c.821C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.203665|6.203665	0.97371|0.97371	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000490332|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.|.	.|.	.|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|.	0.71970|.	0.3403|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77335|.	-0.2626|.	3|.	.|0.87932	.|D	.|0	.|.	17.8323|17.8323	0.88686|0.88686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	91|274;274;274;274;274;274;274;131	.|.	.|ENSP00000357190:S274X	Q|S	-|-	1|2	0|0	PTPRK|PTPRK	128581807|128581807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.457000|9.457000	0.97630|0.97630	2.189000|2.189000	0.69895|0.69895	0.455000|0.455000	0.32223|0.32223	CAG|TCA		PASS	0.408	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			34	46	34	46	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26225048	26225048	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr7:26225048C>T	ENST00000056233.3	+	4	1989	c.1730C>T	c.(1729-1731)tCa>tTa	p.S577L		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	577					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S577L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CTACAAGTCTCACTTATCCGT	0.373																																						uc003sxq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1729-1731)TCA>TTA		nuclear factor erythroid 2-like 3							74.0	72.0	73.0					7																	26225048		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225048C>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1730C>T	7.37:g.26225048C>T	ENSP00000056233:p.Ser577Leu						p.S577L	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	2002	+			577					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1730C>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031070	0.93575	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.91351	-2.83	5.55	5.55	0.83447	Basic-leucine zipper (bZIP) transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.055885	0.64402	D	0.000002	D	0.94860	0.8339	M	0.69823	2.125	0.58432	D	0.999991	D	0.69078	0.997	D	0.67900	0.954	D	0.95067	0.8201	10	0.87932	D	0	-12.5152	19.1229	0.93371	0.0:1.0:0.0:0.0	.	577	Q9Y4A8	NF2L3_HUMAN	L	577;282	ENSP00000056233:S577L	ENSP00000056233:S577L	S	+	2	0	NFE2L3	26191573	1.000000	0.71417	0.971000	0.41717	0.950000	0.60333	6.021000	0.70832	2.621000	0.88768	0.591000	0.81541	TCA		PASS	0.373	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			15	42	15	42	---	---	---	---
NT5C3A	51251	broad.mit.edu	37	7	33059302	33059302	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr7:33059302C>A	ENST00000242210.7	-	6	566	c.490G>T	c.(490-492)Gct>Tct	p.A164S	NT5C3A_ENST00000409787.1_Missense_Mutation_p.A125S|NT5C3A_ENST00000381626.2_Missense_Mutation_p.A113S|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Missense_Mutation_p.A113S|NT5C3A_ENST00000405342.1_Missense_Mutation_p.A125S|NT5C3A_ENST00000610140.1_Missense_Mutation_p.A159S|NT5C3A_ENST00000396152.2_Missense_Mutation_p.A125S	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	164					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.A125S(1)|p.A164S(1)									TTTGGTAAAGCTTGCTGAACA	0.313																																						uc003tdk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(490-492)GCT>TCT		5'-nucleotidase, cytosolic III isoform 1							118.0	112.0	114.0					7																	33059302		2202	4299	6501	SO:0001583	missense	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33059302C>A	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.490G>T	7.37:g.33059302C>A	ENSP00000242210:p.Ala164Ser					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.A125S|NT5C3_uc003tdj.2_Missense_Mutation_p.A125S	p.A164S	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		6	567	-			164					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.490G>T	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	6.152	0.396193	0.11638	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.98	3.11	0.35812	HAD-like domain (1);	0.438831	0.26065	N	0.026547	T	0.73305	0.3570	L	0.34521	1.04	0.20489	N	0.999897	B;B	0.19331	0.035;0.002	B;B	0.27608	0.081;0.018	T	0.57189	-0.7854	10	0.21014	T	0.42	.	10.4081	0.44276	0.1429:0.5814:0.2757:0.0	.	164;125	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	S	113;125;164;125;113;125	ENSP00000371039:A113S;ENSP00000379456:A125S;ENSP00000242210:A164S;ENSP00000385261:A125S;ENSP00000387166:A113S;ENSP00000387205:A125S	ENSP00000242210:A164S	A	-	1	0	NT5C3	33025827	0.901000	0.30685	0.945000	0.38365	0.961000	0.63080	1.428000	0.34892	0.572000	0.29383	-0.319000	0.08680	GCT		PASS	0.313	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		4	108	4	108	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150840549	150840549	+	Silent	SNP	C	C	A	rs200882121		TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr7:150840549C>A	ENST00000463381.1	+	15	1898	c.1402C>A	c.(1402-1404)Cgg>Agg	p.R468R	AGAP3_ENST00000397238.2_Silent_p.R799R	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	763	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.R799R(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AGATGACCTGCGGCTGTTGGT	0.612																																						uc003wjg.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2395-2397)CGG>AGG		centaurin, gamma 3 isoform a							45.0	53.0	50.0					7																	150840549		2174	4271	6445	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840549C>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1402C>A	7.37:g.150840549C>A						AGAP3_uc003wje.1_Silent_p.R468R|AGAP3_uc003wjj.1_Silent_p.R298R|AGAP3_uc003wjk.1_Silent_p.R217R	p.R799R	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			17	2398	+			763			ANK 1.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000463381.1	37	c.2395C>A		.	.	.	.	.	.	.	.	.	.	C	8.932	0.963749	0.18583	.	.	ENSG00000133612	ENST00000461065	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3716	0.32419	0.1529:0.7693:0.0:0.0778	.	.	.	.	X	291	.	.	C	+	3	2	AGAP3	150471482	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	0.490000	0.22403	1.458000	0.47871	0.655000	0.94253	TGC		PASS	0.612	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		4	68	4	68	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145150845	145150845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr8:145150845C>A	ENST00000318911.4	+	2	312	c.239C>A	c.(238-240)tCg>tAg	p.S80*		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	80					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S80*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCTGCATTCGGCTGTGAGT	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zaz.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(238-240)TCG>TAG		cytochrome c-1							59.0	60.0	60.0					8																	145150845		2203	4300	6503	SO:0001587	stop_gained	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150845C>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.239C>A	8.37:g.145150845C>A	ENSP00000317159:p.Ser80*		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692	CYC1_uc003zay.2_Nonsense_Mutation_p.S21*	p.S80*	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	282	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		80					Q5U062|Q6FHS7	Nonsense_Mutation	SNP	ENST00000318911.4	37	c.239C>A	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405267	0.42613	.	.	ENSG00000179091	ENST00000318911	.	.	.	4.14	4.14	0.48551	.	0.346295	0.28420	N	0.015416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3127	10.1981	0.43067	0.0:0.7972:0.2028:0.0	.	.	.	.	X	80	.	ENSP00000317159:S80X	S	+	2	0	CYC1	145222833	0.469000	0.25846	0.535000	0.28026	0.062000	0.15995	5.551000	0.67274	2.296000	0.77279	0.561000	0.74099	TCG		PASS	0.652	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		25	88	25	88	---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146017203	146017203	+	Missense_Mutation	SNP	C	C	A	rs372308540		TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr8:146017203C>A	ENST00000262584.3	-	3	467	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S	RPL8_ENST00000394920.2_Missense_Mutation_p.A79S|RPL8_ENST00000527914.1_Intron|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000528957.1_Missense_Mutation_p.A79S	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.A79S(1)		kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ATGCCCTCGGCGGCAATGAAC	0.642																																						uc003zeb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GCC>TCC		ribosomal protein L8							81.0	82.0	82.0					8																	146017203		2203	4300	6503	SO:0001583	missense	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146017203C>A	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.235G>T	8.37:g.146017203C>A	ENSP00000262584:p.Ala79Ser					RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Intron|RPL8_uc003zec.2_Missense_Mutation_p.A79S|RPL8_uc010mgc.2_Missense_Mutation_p.A79S	p.A79S	NM_033301	NP_150644	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	3	346	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		79					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	c.235G>T	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784986	0.49997	.	.	ENSG00000161016	ENST00000394920;ENST00000262584;ENST00000528957;ENST00000533397;ENST00000532702	T;T;T;T;T	0.45668	0.91;0.91;0.91;0.93;0.89	5.58	5.58	0.84498	Nucleic acid-binding, OB-fold-like (1);Ribosomal Proteins L2, RNA binding domain (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	L	0.58583	1.82	0.80722	D	1	B;B	0.25667	0.013;0.131	B;P	0.56563	0.203;0.801	T	0.59118	-0.7514	10	0.30854	T	0.27	-0.3239	17.5006	0.87730	0.0:1.0:0.0:0.0	.	79;79	B4DVG7;P62917	.;RL8_HUMAN	S	79	ENSP00000378378:A79S;ENSP00000262584:A79S;ENSP00000433464:A79S;ENSP00000435313:A79S;ENSP00000434535:A79S	ENSP00000262584:A79S	A	-	1	0	RPL8	145988007	1.000000	0.71417	0.783000	0.31826	0.041000	0.13682	6.567000	0.73983	2.821000	0.97095	0.555000	0.69702	GCC		PASS	0.642	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		4	195	4	195	---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140130450	140130450	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr9:140130450G>T	ENST00000538474.1	+	13	1606	c.1382G>T	c.(1381-1383)tGg>tTg	p.W461L	SLC34A3_ENST00000361134.2_Missense_Mutation_p.W461L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	461					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.W461L(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ATCCTGCTGTGGTACCTGGTG	0.692											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cmf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)TGG>TTG		solute carrier family 34 (sodium phosphate),							61.0	57.0	58.0					9																	140130450		2202	4295	6497	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130450G>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1382G>T	9.37:g.140130450G>T	ENSP00000442397:p.Trp461Leu		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_uc011met.1_Missense_Mutation_p.W461L	p.W461L	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1568	+	all_cancers(76;0.0926)		461			Helical; Name=M6; (Potential).		A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1382G>T	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462028	0.84425	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.84442	-1.85;-1.85	4.11	4.11	0.48088	.	0.118094	0.38548	N	0.001652	D	0.85974	0.5822	N	0.20766	0.605	0.51012	D	0.999903	D	0.76494	0.999	D	0.87578	0.998	D	0.87008	0.2121	10	0.51188	T	0.08	-10.5414	14.2126	0.65773	0.0:0.0:1.0:0.0	.	461	Q8N130	NPT2C_HUMAN	L	461	ENSP00000442397:W461L;ENSP00000355353:W461L	ENSP00000355353:W461L	W	+	2	0	SLC34A3	139250271	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	9.263000	0.95617	2.304000	0.77564	0.407000	0.27541	TGG		PASS	0.692	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		7	105	7	105	---	---	---	---
AKR1C4	1109	broad.mit.edu	37	10	5242169	5242169	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr10:5242169T>A	ENST00000380448.1	+	4	363	c.110T>A	c.(109-111)gTc>gAc	p.V37D	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.V37D			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	37					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.V37D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GCTGTAGAGGTCACCAAATTA	0.443																																						uc001ihw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(109-111)GTC>GAC		aldo-keto reductase family 1, member C4	NADH(DB00157)						111.0	98.0	102.0					10																	5242169		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5242169T>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.110T>A	10.37:g.5242169T>A	ENSP00000369814:p.Val37Asp						p.V37D	NM_001818	NP_001809	P17516	AK1C4_HUMAN			2	143	+			37					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.110T>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	T	7.537	0.659976	0.14645	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.25749	1.78;1.78	3.46	0.234	0.15390	NADP-dependent oxidoreductase domain (3);	0.866231	0.09719	N	0.764735	T	0.24699	0.0599	M	0.67625	2.065	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35525	-0.9785	10	0.66056	D	0.02	.	4.0234	0.09677	0.0:0.4955:0.1771:0.3273	.	37	P17516	AK1C4_HUMAN	D	37	ENSP00000369814:V37D;ENSP00000263126:V37D	ENSP00000263126:V37D	V	+	2	0	AKR1C4	5232169	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	0.063000	0.14410	-0.171000	0.10797	-1.039000	0.02377	GTC		PASS	0.443	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		5	82	5	82	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16982213	16982213	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr10:16982213T>A	ENST00000377833.4	-	37	5431	c.5366A>T	c.(5365-5367)cAg>cTg	p.Q1789L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1789	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.Q1789L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCAGTCCTGAGAGTCTTC	0.438																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(5365-5367)CAG>CTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						127.0	135.0	132.0					10																	16982213		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16982213T>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5366A>T	10.37:g.16982213T>A	ENSP00000367064:p.Gln1789Leu						p.Q1789L	NM_001081	NP_001072	O60494	CUBN_HUMAN			37	5418	-			1789			CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5366A>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901298	0.33535	.	.	ENSG00000107611	ENST00000377833	T	0.18810	2.19	6.08	-2.54	0.06307	CUB (5);	0.753768	0.11316	N	0.576514	T	0.09905	0.0243	N	0.17901	0.54	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30995	-0.9959	10	0.26408	T	0.33	.	3.988	0.09524	0.1017:0.1245:0.4196:0.3542	.	1789	O60494	CUBN_HUMAN	L	1789	ENSP00000367064:Q1789L	ENSP00000367064:Q1789L	Q	-	2	0	CUBN	17022219	0.000000	0.05858	0.696000	0.30242	0.949000	0.60115	-0.106000	0.10890	-0.708000	0.05015	0.533000	0.62120	CAG		PASS	0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	195	4	195	---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18823121	18823121	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr10:18823121C>T	ENST00000324631.7	+	11	1231	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	CACNB2_ENST00000282343.8_Missense_Mutation_p.P363S|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Missense_Mutation_p.P298S|RP11-383B4.4_ENST00000433526.1_RNA|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339S|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343S|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367S|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337S|CACNB2_ENST00000396576.2_Missense_Mutation_p.P336S	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	391					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.P367S(1)|p.P336S(1)|p.P337S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCTTGGCCCCTATTATAGT	0.368																																						uc001ipr.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1171-1173)CCT>TCT		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						101.0	110.0	107.0					10																	18823121		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18823121C>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1171C>T	10.37:g.18823121C>T	ENSP00000320025:p.Pro391Ser					CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.P367S|CACNB2_uc001ipt.2_Missense_Mutation_p.P353S|CACNB2_uc001ipu.2_Missense_Mutation_p.P363S|CACNB2_uc001ipv.2_Missense_Mutation_p.P339S|CACNB2_uc009xka.1_Missense_Mutation_p.P325S|CACNB2_uc001ipw.2_Missense_Mutation_p.P298S|CACNB2_uc001ipx.2_Missense_Mutation_p.P336S|CACNB2_uc001ipz.2_Missense_Mutation_p.P313S|CACNB2_uc001ipy.2_Missense_Mutation_p.P337S|CACNB2_uc010qco.1_Missense_Mutation_p.P305S|CACNB2_uc001iqa.2_Missense_Mutation_p.P343S|NSUN6_uc001iqb.2_Intron	p.P391S	NM_201596	NP_963890	Q08289	CACB2_HUMAN			11	1231	+			391					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1171C>T	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158949	0.94686	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.54	5.54	0.83059	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.91561	3.22	0.80722	D	1	D;D;D;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;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D	0.84208	0.0454	10	0.87932	D	0	-15.9416	19.4818	0.95013	0.0:1.0:0.0:0.0	.	305;363;343;313;337;347;298;339;363;353;367;391	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	S	391;367;363;339;336;298;337;343	ENSP00000320025:P391S;ENSP00000344474:P367S;ENSP00000282343:P363S;ENSP00000366548:P339S;ENSP00000379821:P336S;ENSP00000366536:P298S;ENSP00000366546:P337S;ENSP00000366532:P343S	ENSP00000282343:P363S	P	+	1	0	CACNB2	18863127	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.590000	0.87494	0.557000	0.71058	CCT		PASS	0.368	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		35	121	35	121	---	---	---	---
GPAM	57678	broad.mit.edu	37	10	113928283	113928283	+	Splice_Site	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr10:113928283C>A	ENST00000348367.4	-	11	1092		c.e11-1		GPAM_ENST00000369425.1_Splice_Site|GPAM_ENST00000423155.1_Splice_Site			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial						acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CAACTATATGCTGGGATATAA	0.373																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e11-1		mitochondrial glycerol 3-phosphate							61.0	59.0	60.0					10																	113928283		2203	4300	6503	SO:0001630	splice_region_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928283C>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.895-1G>T	10.37:g.113928283C>A						GPAM_uc001kzp.2_Splice_Site_p.H299_splice|GPAM_uc001kzq.1_Splice_Site_p.H299_splice	p.H299_splice	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	11	1093	-								Q5VW51|Q86TA3	Splice_Site	SNP	ENST00000348367.4	37	c.895_splice	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406239	0.62288	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0118	0.92875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPAM	113918273	1.000000	0.71417	0.995000	0.50966	0.569000	0.35902	7.475000	0.81041	2.506000	0.84524	0.637000	0.83480	.		PASS	0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918	Intron	13	35	13	35	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116732013	116732013	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr10:116732013A>G	ENST00000298746.3	+	6	777	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	239					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.Q239R(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAAAATTCCAGCCACCATTT	0.353																																						uc001lcd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)CAG>CGG		TruB pseudouridine (psi) synthase homolog 1							103.0	106.0	105.0					10																	116732013		2203	4300	6503	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116732013A>G	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.716A>G	10.37:g.116732013A>G	ENSP00000298746:p.Gln239Arg					TRUB1_uc010qsl.1_Missense_Mutation_p.Q141R	p.Q239R	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	6	777	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	239					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.716A>G	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509761	0.44660	.	.	ENSG00000165832	ENST00000298746	T	0.13089	2.62	5.43	5.43	0.79202	Pseudouridine synthase, catalytic domain (1);	0.178048	0.49916	D	0.000135	T	0.09379	0.0231	N	0.11284	0.12	0.36755	D	0.882968	B	0.23490	0.086	B	0.30401	0.115	T	0.34551	-0.9824	10	0.25106	T	0.35	-11.3031	14.0637	0.64815	1.0:0.0:0.0:0.0	.	239	Q8WWH5	TRUB1_HUMAN	R	239	ENSP00000298746:Q239R	ENSP00000298746:Q239R	Q	+	2	0	TRUB1	116722003	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.824000	0.62701	2.057000	0.61298	0.482000	0.46254	CAG		PASS	0.353	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		3	48	3	48	---	---	---	---
KCNJ11	3767	broad.mit.edu	37	11	17409221	17409221	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:17409221C>T	ENST00000339994.4	-	1	985	c.418G>A	c.(418-420)Gag>Aag	p.E140K	KCNJ11_ENST00000528731.1_Missense_Mutation_p.E53K|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	140					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.E140K(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GGGCACTCCTCAGTCACCATG	0.552											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mna.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)GAG>AAG		potassium inwardly-rectifying channel J11							123.0	97.0	106.0					11																	17409221		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409221C>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.418G>A	11.37:g.17409221C>T	ENSP00000345708:p.Glu140Lys		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_uc001mnb.3_Missense_Mutation_p.E53K	p.E140K	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	986	-			140					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.418G>A	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289377	0.80914	.	.	ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912	D;D;D	0.95918	-3.85;-3.85;-3.85	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	M	0.92784	3.345	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.99659	1.0993	10	0.87932	D	0	.	18.1102	0.89533	0.0:1.0:0.0:0.0	.	140	B2RC52	.	K	140;53;53	ENSP00000345708:E140K;ENSP00000434755:E53K;ENSP00000432729:E53K	ENSP00000345708:E140K	E	-	1	0	KCNJ11	17365797	1.000000	0.71417	0.951000	0.38953	0.828000	0.46876	7.818000	0.86416	2.281000	0.76405	0.462000	0.41574	GAG		PASS	0.552	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		5	40	5	40	---	---	---	---
MAPK8IP1	9479	broad.mit.edu	37	11	45924235	45924235	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:45924235G>T	ENST00000241014.2	+	5	1087	c.917G>T	c.(916-918)cGg>cTg	p.R306L	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.R296L	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	306	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.R306L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACTGAGAGCCGGATGTCAGTC	0.667																																						uc001nbr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(916-918)CGG>CTG		mitogen-activated protein kinase 8 interacting							19.0	23.0	21.0					11																	45924235		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924235G>T		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.917G>T	11.37:g.45924235G>T	ENSP00000241014:p.Arg306Leu						p.R306L	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1087	+			306					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.917G>T	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863030	0.71949	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.41400	1.0;1.02	4.58	4.58	0.56647	.	0.058859	0.64402	D	0.000002	T	0.53867	0.1823	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.58381	-0.7646	10	0.66056	D	0.02	-27.4477	17.9065	0.88919	0.0:0.0:1.0:0.0	.	306	Q9UQF2	JIP1_HUMAN	L	306;296	ENSP00000241014:R306L;ENSP00000378991:R296L	ENSP00000241014:R306L	R	+	2	0	MAPK8IP1	45880811	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.907000	0.75724	2.541000	0.85698	0.561000	0.74099	CGG		PASS	0.667	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		13	37	13	37	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579660	55579660	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:55579660A>T	ENST00000333973.2	+	1	807	c.718A>T	c.(718-720)Acc>Tcc	p.T240S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T240S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGCCTTCTCCACCTGTGCTTC	0.502																																						uc001nhw.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(718-720)ACC>TCC		olfactory receptor, family 5, subfamily L,							185.0	151.0	163.0					11																	55579660		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579660A>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.718A>T	11.37:g.55579660A>T	ENSP00000335529:p.Thr240Ser						p.T240S	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	718	+		all_epithelial(135;0.208)	240			Helical; Name=6; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.718A>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	a	19.48	3.834850	0.71373	.	.	ENSG00000186117	ENST00000333973	T	0.40476	1.03	4.12	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.69015	0.3064	M	0.93854	3.465	0.36258	D	0.854371	D	0.89917	1.0	D	0.97110	1.0	T	0.76214	-0.3041	10	0.87932	D	0	-66.1415	8.7091	0.34374	0.9048:0.0:0.0952:0.0	.	240	Q8NGL2	OR5L1_HUMAN	S	240	ENSP00000335529:T240S	ENSP00000335529:T240S	T	+	1	0	OR5L1	55336236	1.000000	0.71417	0.986000	0.45419	0.821000	0.46438	6.967000	0.76079	0.454000	0.26884	0.352000	0.21897	ACC		PASS	0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		29	74	29	74	---	---	---	---
LGALS12	85329	broad.mit.edu	37	11	63278578	63278578	+	Splice_Site	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:63278578G>C	ENST00000394618.3	+	6	915		c.e6+1		LGALS12_ENST00000255684.5_Intron|LGALS12_ENST00000415491.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000425950.2_Intron	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CCCCAGGCTGGTGAGTGAACC	0.557																																						uc001nxa.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e6+1		lectin, galactoside-binding, soluble, 12 isoform							89.0	74.0	79.0					11																	63278578		2201	4298	6499	SO:0001630	splice_region_variant	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63278578G>C	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.624+1G>C	11.37:g.63278578G>C						LGALS12_uc001nxb.2_Intron|LGALS12_uc001nxc.2_Splice_Site_p.L209_splice|LGALS12_uc001nxd.2_Splice_Site_p.L147_splice|LGALS12_uc001nxe.2_Intron|LGALS12_uc009yot.2_Splice_Site_p.L168_splice	p.L208_splice	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			6	965	+								B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Splice_Site	SNP	ENST00000394618.3	37	c.624_splice	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826427	0.71143	.	.	ENSG00000133317	ENST00000394618;ENST00000340246;ENST00000415491	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9921	0.71396	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGALS12	63035154	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.321000	0.59209	2.701000	0.92244	0.561000	0.74099	.		PASS	0.557	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	Intron	8	78	8	78	---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64572634	64572634	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:64572634C>G	ENST00000337652.1	-	9	1740	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377321.1_Missense_Mutation_p.E373Q|MEN1_ENST00000377326.3_Missense_Mutation_p.E408Q|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000394374.2_Missense_Mutation_p.E413Q|MEN1_ENST00000315422.4_Missense_Mutation_p.E408Q|MEN1_ENST00000312049.6_Missense_Mutation_p.E408Q|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.E413Q|MEN1_ENST00000394376.1_Missense_Mutation_p.E413Q|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000443283.1_Missense_Mutation_p.E413Q	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	413					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.E408Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GCGAAGCACTCAGGGTCCTGG	0.627			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)		lung(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238	GRCh37	CD982773	MEN1	D		c.(1237-1239)GAG>CAG		menin isoform 1							68.0	65.0	66.0					11																	64572634		2201	4297	6498	SO:0001583	missense	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572634C>G	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1237G>C	11.37:g.64572634C>G	ENSP00000337088:p.Glu413Gln					MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.E413Q|MEN1_uc001obl.2_Missense_Mutation_p.E373Q|MEN1_uc001obm.2_Missense_Mutation_p.E408Q|MEN1_uc001obn.2_Missense_Mutation_p.E413Q|MEN1_uc001obo.2_Missense_Mutation_p.E413Q|MEN1_uc001obp.2_Missense_Mutation_p.E408Q|MEN1_uc001obq.2_Missense_Mutation_p.E413Q|MEN1_uc001obr.2_Missense_Mutation_p.E413Q	p.E413Q	NM_130800	NP_570712	O00255	MEN1_HUMAN			9	1310	-			413					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1237G>C	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276264	0.59649	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33	3.71	3.71	0.42584	.	0.061993	0.64402	D	0.000008	D	0.98826	0.9604	L	0.41824	1.3	0.46823	D	0.999219	B;P;B	0.46706	0.291;0.883;0.339	B;P;B	0.51079	0.091;0.658;0.148	D	0.98374	1.0555	10	0.49607	T	0.09	-26.8499	13.4541	0.61189	0.0:1.0:0.0:0.0	.	408;373;413	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	Q	373;408;408;408;413;413;413;413;413	ENSP00000366538:E373Q;ENSP00000366543:E408Q;ENSP00000308975:E408Q;ENSP00000323747:E408Q;ENSP00000337088:E413Q;ENSP00000377901:E413Q;ENSP00000377899:E413Q;ENSP00000396940:E413Q;ENSP00000366530:E413Q	ENSP00000308975:E408Q	E	-	1	0	MEN1	64329210	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	3.858000	0.55979	2.104000	0.64026	0.456000	0.33151	GAG		PASS	0.627	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			16	97	16	97	---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67201893	67201893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:67201893C>T	ENST00000312629.5	+	13	1138	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	365	AGC-kinase C-terminal.				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)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.Q365*(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTTCACACGGCAGACGCCGGT	0.647																																						uc001old.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7						c.(1093-1095)CAG>TAG		ribosomal protein S6 kinase, 70kDa, polypeptide							36.0	41.0	39.0					11																	67201893		2069	4196	6265	SO:0001587	stop_gained	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201893C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1093C>T	11.37:g.67201893C>T	ENSP00000308413:p.Gln365*					RPS6KB2_uc001olf.2_Nonsense_Mutation_p.Q165*|RPS6KB2_uc001olg.2_Nonsense_Mutation_p.Q365*|RPS6KB2_uc009yrq.2_Nonsense_Mutation_p.Q165*|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Nonsense_Mutation_p.Q196*	p.Q365*	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		13	1175	+			365			AGC-kinase C-terminal.		B2RMZ9|B4DML8|O94809|Q9UEC1	Nonsense_Mutation	SNP	ENST00000312629.5	37	c.1093C>T	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083587	0.76642	.	.	ENSG00000175634	ENST00000312629	.	.	.	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	16.9931	0.86359	0.0:1.0:0.0:0.0	.	.	.	.	X	365	.	ENSP00000308413:Q365X	Q	+	1	0	RPS6KB2	66958469	1.000000	0.71417	0.988000	0.46212	0.363000	0.29612	7.232000	0.78116	2.327000	0.79052	0.313000	0.20887	CAG		PASS	0.647	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		35	72	35	72	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108043367	108043367	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:108043367T>C	ENST00000278612.8	-	13	2449	c.2344A>G	c.(2344-2346)Aaa>Gaa	p.K782E	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	782					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K782E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGCATTTTTAGTAGGTGAT	0.378																																						uc001pjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2344-2346)AAA>GAA		nuclear protein,  ataxia-telangiectasia locus							71.0	66.0	68.0					11																	108043367		1828	4096	5924	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043367T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2344A>G	11.37:g.108043367T>C	ENSP00000278612:p.Lys782Glu					NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.K577E	p.K782E	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2446	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	782					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2344A>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622153	0.46840	.	.	ENSG00000149308	ENST00000278612	T	0.06371	3.31	6.08	3.73	0.42828	.	0.545556	0.20520	N	0.090705	T	0.08802	0.0218	L	0.43923	1.385	0.35229	D	0.776723	P;P	0.47841	0.901;0.649	P;B	0.47827	0.558;0.359	T	0.31052	-0.9957	10	0.38643	T	0.18	-15.8255	8.4866	0.33076	0.0:0.0672:0.1325:0.8004	.	782;782	B9EG70;Q14207	.;NPAT_HUMAN	E	782	ENSP00000278612:K782E	ENSP00000278612:K782E	K	-	1	0	NPAT	107548577	1.000000	0.71417	0.985000	0.45067	0.340000	0.28889	3.331000	0.52075	1.073000	0.40885	0.533000	0.62120	AAA		PASS	0.378	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		28	56	28	56	---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113608372	113608372	+	Silent	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:113608372C>T	ENST00000200135.3	-	14	2082	c.1938G>A	c.(1936-1938)gtG>gtA	p.V646V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	646					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.V646V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATATATATTCACTGGCAGGA	0.418																																						uc001poe.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1936-1938)GTG>GTA		centromere/kinetochore protein zw10							138.0	128.0	132.0					11																	113608372		2201	4296	6497	SO:0001819	synonymous_variant	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113608372C>T	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1938G>A	11.37:g.113608372C>T						ZW10_uc009yyv.2_RNA	p.V646V	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	14	1975	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	646					A1A528	Silent	SNP	ENST00000200135.3	37	c.1938G>A	CCDS8363.1																																																																																				PASS	0.418	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		14	98	14	98	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						uc001ppi.3																			5	Substitution - coding silent(5)		kidney(3)|lung(2)	ovary(2)	2						c.(1027-1029)ACC>ACA		immunoglobulin superfamily, member 4D isoform 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Silent_p.T95T	p.T343T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1158	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).		Extracellular (Potential).			Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				PASS	0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		3	39	3	39	---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1192740	1192740	+	Silent	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr12:1192740G>A	ENST00000397203.2	+	3	1486	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L	ERC1_ENST00000589028.1_Silent_p.L360L|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Silent_p.L360L|ERC1_ENST00000355446.5_Silent_p.L360L|ERC1_ENST00000546231.2_Silent_p.L360L|ERC1_ENST00000543086.3_Silent_p.L360L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	360					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.L360L(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAGTATGTTGAGAGAGGTAT	0.413																																						uc001qjb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1078-1080)TTG>TTA		RAB6-interacting protein 2 isoform epsilon							85.0	81.0	82.0					12																	1192740		2203	4300	6503	SO:0001819	synonymous_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1192740G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1080G>A	12.37:g.1192740G>A						ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.L360L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Silent_p.L360L|ERC1_uc010sdv.1_Silent_p.L136L	p.L360L	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		3	1321	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		360			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	37	c.1080G>A	CCDS8508.1																																																																																				PASS	0.413	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		7	128	7	128	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29669355	29669355	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr12:29669355G>A	ENST00000539277.1	-	15	2292	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L	TMTC1_ENST00000551659.1_Missense_Mutation_p.S807L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.S769L|TMTC1_ENST00000256062.5_Missense_Mutation_p.S637L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	745						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S637L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGTCTCCTCTGACACAATGTG	0.468																																						uc001rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1909-1911)TCA>TTA		transmembrane and tetratricopeptide repeat							167.0	151.0	157.0					12																	29669355		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29669355G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2234C>T	12.37:g.29669355G>A	ENSP00000442046:p.Ser745Leu					TMTC1_uc001riz.2_Missense_Mutation_p.S394L|TMTC1_uc001rja.2_Missense_Mutation_p.S481L|TMTC1_uc001riy.2_Missense_Mutation_p.S90L	p.S637L	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			15	2384	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		745					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1910C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964889	0.34659	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.52754	0.65;0.65;0.65;1.13	5.26	2.3	0.28687	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.504110	0.22093	N	0.064728	T	0.38506	0.1043	L	0.60455	1.87	0.20638	N	0.999878	P;B;B	0.44521	0.837;0.003;0.383	B;B;B	0.41036	0.346;0.005;0.107	T	0.22452	-1.0216	10	0.36615	T	0.2	-0.1799	4.314	0.10984	0.078:0.1294:0.4935:0.2991	.	745;807;90	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	L	508;637;807;769;745	ENSP00000256062:S637L;ENSP00000448112:S807L;ENSP00000449043:S769L;ENSP00000442046:S745L	ENSP00000256062:S637L	S	-	2	0	TMTC1	29560622	0.202000	0.23423	0.011000	0.14972	0.384000	0.30261	2.599000	0.46231	0.301000	0.22738	0.655000	0.94253	TCA		PASS	0.468	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		4	79	4	79	---	---	---	---
TUBA1C	84790	broad.mit.edu	37	12	49666490	49666490	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr12:49666490C>G	ENST00000301072.6	+	4	1105	c.830C>G	c.(829-831)tCt>tGt	p.S277C	TUBA1C_ENST00000541364.1_Missense_Mutation_p.S347C|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	277					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S277C(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CCTGTCATCTCTGCTGAGAAA	0.532																																						uc001rtt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)TCT>TGT		tubulin alpha 6							20.0	66.0	51.0					12																	49666490		2083	4267	6350	SO:0001583	missense	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666490C>G	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.830C>G	12.37:g.49666490C>G	ENSP00000301072:p.Ser277Cys					TUBA1C_uc001rts.2_Missense_Mutation_p.S242C|TUBA1C_uc010smh.1_Missense_Mutation_p.S347C|uc010smi.1_Missense_Mutation_p.R33T	p.S277C	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN			4	930	+			277						Missense_Mutation	SNP	ENST00000301072.6	37	c.830C>G	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947080	0.53186	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000321665	D;D	0.85484	-1.99;-1.99	5.12	5.12	0.69794	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96169	0.8751	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.97869	1.0285	10	0.87932	D	0	.	18.2765	0.90085	0.0:1.0:0.0:0.0	.	347;277	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	C	347;277;147	ENSP00000443475:S347C;ENSP00000301072:S277C	ENSP00000301072:S277C	S	+	2	0	TUBA1C	47952757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.410000	0.80065	2.777000	0.95525	0.549000	0.68633	TCT		PASS	0.532	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		5	202	5	202	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129822298	129822298	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr12:129822298G>A	ENST00000422113.2	-	4	1506	c.1180C>T	c.(1180-1182)Cca>Tca	p.P394S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	394					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P394S(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGTGTGGCTGGCAGGTCACCA	0.572																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1180-1182)CCA>TCA		transmembrane protein 132D precursor							148.0	132.0	138.0					12																	129822298		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822298G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1180C>T	12.37:g.129822298G>A	ENSP00000408581:p.Pro394Ser						p.P394S	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1508	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	394			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1180C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.203390	0.01581	.	.	ENSG00000151952	ENST00000422113	T	0.09073	3.02	5.31	4.41	0.53225	.	0.307502	0.27951	N	0.017183	T	0.05731	0.0150	N	0.03177	-0.4	0.09310	N	1	B	0.33612	0.419	B	0.41036	0.346	T	0.44937	-0.9295	9	.	.	.	-9.8226	14.4977	0.67700	0.0:0.1462:0.8538:0.0	.	394	Q14C87	T132D_HUMAN	S	394	ENSP00000408581:P394S	.	P	-	1	0	TMEM132D	128388251	0.994000	0.37717	0.004000	0.12327	0.113000	0.19764	3.705000	0.54823	1.225000	0.43566	0.650000	0.86243	CCA		PASS	0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	332	5	332	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454188	84454188	+	Silent	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr13:84454188G>A	ENST00000377084.2	-	1	2340	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	485					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.S485S(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCACAGGCAGGGACCTCAGCA	0.542																																						uc001vlk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1453-1455)TCC>TCT		slit and trk like 1 protein precursor							61.0	60.0	60.0					13																	84454188		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84454188G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1455C>T	13.37:g.84454188G>A							p.S485S	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2341	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	485			Extracellular (Potential).|LRR 11.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1455C>T	CCDS9464.1																																																																																				PASS	0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		27	50	27	50	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20403949	20403949	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr14:20403949A>T	ENST00000285600.4	+	1	183	c.124A>T	c.(124-126)Aat>Tat	p.N42Y		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N42Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTGCTAGGCAATGTCTTAAT	0.363																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(124-126)AAT>TAT		olfactory receptor, family 4, subfamily K,							357.0	377.0	370.0					14																	20403949		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403949A>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.124A>T	14.37:g.20403949A>T	ENSP00000285600:p.Asn42Tyr						p.N42Y	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	124	+	all_cancers(95;0.00108)		42			Helical; Name=1; (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.124A>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	19.22	3.784900	0.70222	.	.	ENSG00000155249	ENST00000285600	T	0.74842	-0.88	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	D	0.91808	0.7408	H	0.99600	4.65	0.40662	D	0.982133	D	0.89917	1.0	D	0.85130	0.997	D	0.94637	0.7827	10	0.87932	D	0	.	12.2701	0.54702	1.0:0.0:0.0:0.0	.	42	Q8NGD4	OR4K1_HUMAN	Y	42	ENSP00000285600:N42Y	ENSP00000285600:N42Y	N	+	1	0	OR4K1	19473789	1.000000	0.71417	0.719000	0.30619	0.940000	0.58332	8.240000	0.89813	2.008000	0.58898	0.459000	0.35465	AAT		PASS	0.363	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			87	166	87	166	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71197217	71197217	+	Silent	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr14:71197217C>T	ENST00000554752.2	-	12	3194	c.3195G>A	c.(3193-3195)cgG>cgA	p.R1065R	MAP3K9_ENST00000554146.1_Silent_p.R793R|MAP3K9_ENST00000553414.1_Silent_p.R798R|MAP3K9_ENST00000381250.4_Silent_p.R1042R|MAP3K9_ENST00000555993.2_Silent_p.R1079R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1065					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R1079R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCAGGAGCGTCCGCTCAGTCG	0.642																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3193-3195)CGG>CGA		mitogen-activated protein kinase kinase kinase							46.0	42.0	43.0					14																	71197217		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197217C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3195G>A	14.37:g.71197217C>T						MAP3K9_uc010ttk.1_Silent_p.R793R|MAP3K9_uc001xmk.2_Silent_p.R798R|MAP3K9_uc001xml.2_Silent_p.R1079R	p.R1065R	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	3195	-			1065					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.3195G>A																																																																																					PASS	0.642	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	89	4	89	---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73974852	73974852	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr14:73974852G>C	ENST00000553558.1	-	9	2188	c.1867C>G	c.(1867-1869)Ctg>Gtg	p.L623V	HEATR4_ENST00000560393.1_Missense_Mutation_p.L576V|HEATR4_ENST00000334988.2_Missense_Mutation_p.L623V	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	623								p.L576V(1)|p.L623V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTCTCACTCAGATAGCTCAGG	0.448																																						uc010tub.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1867-1869)CTG>GTG		HEAT repeat containing 4							146.0	131.0	136.0					14																	73974852		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73974852G>C	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1867C>G	14.37:g.73974852G>C	ENSP00000450444:p.Leu623Val					HEATR4_uc010tua.1_Missense_Mutation_p.L576V	p.L623V	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	9	2189	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1867C>G	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445198	0.63178	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.19105	2.17	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000155	T	0.38532	0.1044	L	0.50333	1.59	0.31981	N	0.605895	D	0.76494	0.999	D	0.80764	0.994	T	0.41840	-0.9486	10	0.48119	T	0.1	-13.6233	11.8758	0.52546	0.081:0.0:0.919:0.0	.	623	Q86WZ0	HEAT4_HUMAN	V	623;576	ENSP00000450444:L623V	ENSP00000335447:L576V	L	-	1	2	HEATR4	73044605	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	2.776000	0.47709	2.651000	0.90000	0.563000	0.77884	CTG		PASS	0.448	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		3	140	3	140	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106110410	106110410	+	RNA	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr14:106110410C>T	ENST00000390545.2	-	0	325							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTTACCTGGGCACGGTGGGCA	0.617																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							135.0	133.0	134.0					14																	106110410		2072	4215	6287			8755							g.chr14:106110410C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110410C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_RNA								3641		-								A6NE66	RNA	SNP	ENST00000390545.2	37	c.60959G>A																																																																																					PASS	0.617	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		13	284	13	284	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34548481	34548481	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr15:34548481T>C	ENST00000354181.3	-	7	1186	c.694A>G	c.(694-696)Atg>Gtg	p.M232V	SLC12A6_ENST00000397707.2_Missense_Mutation_p.M217V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.M173V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.M223V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.M232V|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000458406.2_Missense_Mutation_p.M173V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.M181V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.M232V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.M44V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.M44V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	232					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.M223V(1)|p.M181V(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCAGTCAACATTGTCTGCAGA	0.413																																						uc001zhw.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(694-696)ATG>GTG		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						139.0	115.0	123.0					15																	34548481		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34548481T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.694A>G	15.37:g.34548481T>C	ENSP00000346112:p.Met232Val					SLC12A6_uc001zhv.2_Missense_Mutation_p.M181V|SLC12A6_uc001zhx.2_Missense_Mutation_p.M217V|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.M173V|SLC12A6_uc001zib.2_Missense_Mutation_p.M223V|SLC12A6_uc001zic.2_Missense_Mutation_p.M232V|SLC12A6_uc010bau.2_Missense_Mutation_p.M232V|SLC12A6_uc001zid.2_Missense_Mutation_p.M173V|SLC12A6_uc001zhu.2_Missense_Mutation_p.M44V	p.M232V	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	6	858	-		all_lung(180;2.78e-08)	232			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.694A>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.462419	0.26248	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94	5.42	-1.83	0.07833	Amino acid permease domain (1);	0.839991	0.10609	N	0.654689	D	0.95335	0.8486	L	0.42581	1.335	0.42176	D	0.991663	B;B;B;B	0.19331	0.01;0.013;0.035;0.013	B;B;B;B	0.32211	0.025;0.043;0.043;0.142	D	0.86986	0.2107	10	0.87932	D	0	.	1.9983	0.03461	0.3902:0.0693:0.2241:0.3165	.	217;232;181;44	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	V	181;217;223;173;173;44	ENSP00000290209:M181V;ENSP00000380819:M217V;ENSP00000380814:M173V;ENSP00000387725:M173V;ENSP00000390199:M44V	ENSP00000290209:M181V	M	-	1	0	SLC12A6	32335773	0.036000	0.19791	0.537000	0.28052	0.486000	0.33341	0.185000	0.16958	-0.509000	0.06532	-0.344000	0.07964	ATG		PASS	0.413	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		15	31	15	31	---	---	---	---
SEMA7A	8482	broad.mit.edu	37	15	74703219	74703219	+	Missense_Mutation	SNP	C	C	T	rs183138976		TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr15:74703219C>T	ENST00000261918.4	-	14	2295	c.1747G>A	c.(1747-1749)Gtg>Atg	p.V583M	SEMA7A_ENST00000542748.1_Missense_Mutation_p.V418M|SEMA7A_ENST00000543145.2_Missense_Mutation_p.V569M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	583	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V583M(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCTGCTCCACGTTCTCCTTG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		20045	0.001		0.0	False		,,,				2504	0.0					uc002axv.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1747-1749)GTG>ATG		semaphorin 7A isoform 1 preproprotein							114.0	111.0	112.0					15																	74703219		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703219C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1747G>A	15.37:g.74703219C>T	ENSP00000261918:p.Val583Met					SEMA7A_uc010ulk.1_Missense_Mutation_p.V418M|SEMA7A_uc010ull.1_Missense_Mutation_p.V569M	p.V583M	NM_003612	NP_003603	O75326	SEM7A_HUMAN			14	1787	-			583			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1747G>A	CCDS10262.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.63	2.889994	0.52014	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.13089	2.62;2.62;2.62	4.55	3.39	0.38822	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.700883	0.12451	N	0.467720	T	0.12860	0.0312	L	0.44542	1.39	0.09310	N	0.999994	D;D	0.63046	0.99;0.992	B;P	0.45167	0.341;0.472	T	0.15983	-1.0418	10	0.46703	T	0.11	-15.9662	5.2936	0.15741	0.0:0.6254:0.1991:0.1755	.	569;583	F5H1S0;O75326	.;SEM7A_HUMAN	M	583;569;418	ENSP00000261918:V583M;ENSP00000438966:V569M;ENSP00000441493:V418M	ENSP00000261918:V583M	V	-	1	0	SEMA7A	72490272	0.244000	0.23889	0.949000	0.38748	0.992000	0.81027	0.672000	0.25187	2.094000	0.63399	0.555000	0.69702	GTG		PASS	0.612	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		62	155	62	155	---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	335012	335012	+	Silent	SNP	G	G	A	rs45591741	byFrequency	TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr16:335012G>A	ENST00000219406.6	+	4	693	c.675G>A	c.(673-675)aaG>aaA	p.K225K	PDIA2_ENST00000404312.1_Silent_p.K222K|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	225					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)	p.K225K(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TTCTCTTCAAGAAGGTAGGTC	0.632																																						uc002cgn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(673-675)AAG>AAA		protein disulfide isomerase A2 precursor							57.0	61.0	60.0					16																	335012		1996	4154	6150	SO:0001819	synonymous_variant	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335012G>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.675G>A	16.37:g.335012G>A						PDIA2_uc010bqt.1_Silent_p.K70K|PDIA2_uc002cgo.1_Silent_p.K225K	p.K225K	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			9	1783	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	225					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	c.675G>A	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	0.331	-0.956002	0.02267	.	.	ENSG00000185615	ENST00000456379	.	.	.	3.64	1.57	0.23409	.	.	.	.	.	T	0.53674	0.1811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	.	6.3016	0.21115	0.1087:0.1861:0.7052:0.0	.	.	.	.	K	207	.	.	R	+	2	0	PDIA2	275013	1.000000	0.71417	0.988000	0.46212	0.003000	0.03518	1.646000	0.37249	0.217000	0.20800	-0.516000	0.04426	AGA		PASS	0.632	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		4	124	4	124	---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68398801	68398801	+	Missense_Mutation	SNP	C	C	A	rs200518296		TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr16:68398801C>A	ENST00000219334.5	-	5	2011	c.1408G>T	c.(1408-1410)Gcc>Tcc	p.A470S	SMPD3_ENST00000563226.1_Missense_Mutation_p.A470S|SMPD3_ENST00000568373.1_Missense_Mutation_p.A470S|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	470					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.A470S(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CACCGGATGGCGCTGTCCTCT	0.597																																						uc002ewa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1408-1410)GCC>TCC		neutral sphingomyelin phosphodiesterase 3	Phosphatidylserine(DB00144)						45.0	38.0	41.0					16																	68398801		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68398801C>A	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1408G>T	16.37:g.68398801C>A	ENSP00000219334:p.Ala470Ser					SMPD3_uc010cfe.2_Missense_Mutation_p.A470S|SMPD3_uc010vlh.1_Missense_Mutation_p.A470S	p.A470S	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	5	1830	-		Ovarian(137;0.0563)	470			Lumenal (Potential).		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1408G>T	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097843	0.37048	.	.	ENSG00000103056	ENST00000219334	T	0.80824	-1.42	5.67	4.63	0.57726	Endonuclease/exonuclease/phosphatase (2);	0.289862	0.38217	N	0.001769	T	0.67924	0.2945	L	0.41492	1.28	0.40458	D	0.980218	B;B;B	0.18166	0.026;0.011;0.011	B;B;B	0.19666	0.026;0.023;0.015	T	0.59752	-0.7395	10	0.14656	T	0.56	-13.0954	6.5008	0.22168	0.0:0.8513:0.0:0.1487	.	470;470;470	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	S	470	ENSP00000219334:A470S	ENSP00000219334:A470S	A	-	1	0	SMPD3	66956302	0.864000	0.29904	0.998000	0.56505	0.994000	0.84299	1.535000	0.36061	2.666000	0.90696	0.561000	0.74099	GCC		PASS	0.597	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		12	31	12	31	---	---	---	---
LDHD	197257	broad.mit.edu	37	16	75149555	75149555	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr16:75149555C>G	ENST00000450168.2	-	2	126	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	LDHD_ENST00000300051.4_Missense_Mutation_p.E26Q	NM_194436.2	NP_919417.1			lactate dehydrogenase D									p.E26Q(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CTGCAGAGCTCTCCCTGCAGG	0.687																																						uc002fdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)GAG>CAG		D-lactate dehydrogenase isoform 1 precursor							16.0	19.0	18.0					16																	75149555		2195	4298	6493	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75149555C>G	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.76G>C	16.37:g.75149555C>G	ENSP00000417011:p.Glu26Gln					LDHD_uc002fdn.2_Missense_Mutation_p.E26Q	p.E26Q	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			2	123	-			26						Missense_Mutation	SNP	ENST00000450168.2	37	c.76G>C	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	C	8.942	0.966071	0.18659	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.87729	-2.28;-2.29	5.26	-5.76	0.02376	FAD-binding, type 2, subdomain 1 (1);	1.158660	0.06539	N	0.742822	T	0.68961	0.3058	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.54200	-0.8329	10	0.21540	T	0.41	1.2972	2.7256	0.05213	0.1001:0.1729:0.3064:0.4207	.	26;26	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	Q	26	ENSP00000417011:E26Q;ENSP00000300051:E26Q	ENSP00000300051:E26Q	E	-	1	0	LDHD	73707056	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.485000	0.06520	-0.326000	0.08564	0.556000	0.70494	GAG		PASS	0.687	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		3	25	3	25	---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563756	75563756	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr16:75563756G>A	ENST00000336257.3	-	3	1921	c.527C>T	c.(526-528)aCg>aTg	p.T176M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.T182M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.T176M(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGGCTGCCGCGTGCACAGTGT	0.662																																						uc002fei.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(526-528)ACG>ATG		carbohydrate (N-acetylglucosamine 6-O)							97.0	103.0	101.0					16																	75563756		2198	4299	6497	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563756G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.527C>T	16.37:g.75563756G>A	ENSP00000338783:p.Thr176Met					CHST5_uc002fej.1_Missense_Mutation_p.T182M	p.T176M	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	1922	-			176			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.527C>T	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220308	0.22457	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96491	-4.03;-4.03	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.182827	0.45126	D	0.000397	D	0.92218	0.7532	N	0.08118	0	0.19775	N	0.99995	P;P	0.50819	0.925;0.939	P;P	0.53062	0.707;0.717	D	0.86000	0.1494	10	0.51188	T	0.08	.	8.6504	0.34031	0.0:0.4004:0.5996:0.0	.	182;176	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	176;182	ENSP00000338783:T176M;ENSP00000441220:T182M	ENSP00000338783:T176M	T	-	2	0	CHST5	74121257	0.000000	0.05858	0.995000	0.50966	0.267000	0.26476	0.105000	0.15333	1.514000	0.48869	0.313000	0.20887	ACG		PASS	0.662	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		40	244	40	244	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89623473	89623473	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr16:89623473G>A	ENST00000268704.2	+	17	2375	c.2360G>A	c.(2359-2361)gGa>gAa	p.G787E	SPG7_ENST00000565891.1_3'UTR	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	787					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.G787E(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCTCCACTTGGAGGCGAAGAG	0.607											OREG0024053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fnj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2359-2361)GGA>GAA		spastic paraplegia 7 isoform 1							31.0	31.0	31.0					16																	89623473		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89623473G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.2360G>A	16.37:g.89623473G>A	ENSP00000268704:p.Gly787Glu		OREG0024053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1268	SPG7_uc002fnl.2_Missense_Mutation_p.G196E	p.G787E	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	17	2381	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	787			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.2360G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	2.060	-0.415589	0.04766	.	.	ENSG00000197912	ENST00000268704	D	0.92048	-2.96	4.76	-3.52	0.04682	.	2.447740	0.01638	N	0.023870	T	0.77398	0.4124	N	0.08118	0	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.74904	-0.3505	10	0.02654	T	1	-0.1642	1.715	0.02899	0.3775:0.2206:0.2899:0.1121	.	787	Q9UQ90	SPG7_HUMAN	E	787	ENSP00000268704:G787E	ENSP00000268704:G787E	G	+	2	0	SPG7	88150974	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.576000	0.23744	-1.152000	0.02832	-0.253000	0.11424	GGA		PASS	0.607	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		5	61	5	61	---	---	---	---
SERPINF2	5345	broad.mit.edu	37	17	1650617	1650617	+	Missense_Mutation	SNP	G	G	C	rs121965061		TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr17:1650617G>C	ENST00000324015.3	+	7	603	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	SERPINF2_ENST00000382061.4_Missense_Mutation_p.E176Q|SERPINF2_ENST00000450523.2_Missense_Mutation_p.E112Q	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	176			Missing (in APLID; variant Okinawa; probably blocks intracellular transport of alpha-2-plasmin inhibitor). {ECO:0000269|PubMed:2572590}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E176Q(1)		breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TCCCATCAAAGAAGATTTCCT	0.567																																						uc002ftk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)GAA>CAA		alpha-2-antiplasmin isoform a precursor	Streptokinase(DB00086)						38.0	38.0	38.0					17																	1650617		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1650617G>C	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.526G>C	17.37:g.1650617G>C	ENSP00000321853:p.Glu176Gln					SERPINF2_uc010vqr.1_Missense_Mutation_p.E112Q	p.E176Q	NM_000934	NP_000925	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	603	+			176		Missing (in APLID; variant Okinawa; probably blocks intracellular transport of alpha-2-plasmin inhibitor).			B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.526G>C	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	G	9.942	1.217839	0.22373	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000382061	D;T;T;T	0.87887	-2.31;1.26;1.26;1.26	5.22	3.03	0.35002	Serpin domain (3);	0.547417	0.20559	N	0.089955	T	0.76919	0.4055	N	0.20845	0.615	0.30480	N	0.772415	B;B	0.23990	0.095;0.095	B;B	0.23574	0.047;0.047	T	0.72401	-0.4305	10	0.37606	T	0.19	.	10.7677	0.46303	0.1411:0.1193:0.7396:0.0	.	112;176	B4E1B7;P08697	.;A2AP_HUMAN	Q	176;176;112;112;176	ENSP00000402286:E176Q;ENSP00000321853:E176Q;ENSP00000403877:E112Q;ENSP00000371493:E176Q	ENSP00000321853:E176Q	E	+	1	0	SERPINF2	1597367	1.000000	0.71417	0.979000	0.43373	0.713000	0.41058	1.295000	0.33377	1.203000	0.43233	0.650000	0.86243	GAA		PASS	0.567	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		16	19	16	19	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|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 sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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.(526-528)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	49.0	49.0					17																	7578403		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.chr17:7578403C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe	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.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	p.C176F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	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.527G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	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	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		PASS	0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	30	26	30	---	---	---	---
ITGB3	3690	broad.mit.edu	37	17	45367602	45367602	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr17:45367602T>A	ENST00000559488.1	+	8	1103	c.1087T>A	c.(1087-1089)Tcc>Acc	p.S363T	ITGB3_ENST00000435993.2_Missense_Mutation_p.S316T|ITGB3_ENST00000571680.1_Missense_Mutation_p.S363T|ITGB3_ENST00000560629.1_Missense_Mutation_p.F351Y	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	363	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.S363T(1)|p.S316T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GTCCATGGATTCCAGCAATGT	0.498																																						uc002ilj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(1)	6						c.(1087-1089)TCC>ACC		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						244.0	233.0	237.0					17																	45367602		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45367602T>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1087T>A	17.37:g.45367602T>A	ENSP00000452786:p.Ser363Thr					ITGB3_uc002ili.1_Missense_Mutation_p.S363T|ITGB3_uc010wkr.1_RNA	p.S363T	NM_000212	NP_000203	P05106	ITB3_HUMAN			8	1107	+			363			VWFA.|Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1087T>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.016388	0.93404	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.94828	-3.53	5.57	5.57	0.84162	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.103529	0.64402	D	0.000002	D	0.97980	0.9335	H	0.95884	3.735	0.80722	D	1	P;D	0.53619	0.704;0.961	P;D	0.64042	0.764;0.921	D	0.99157	1.0860	10	0.87932	D	0	.	14.6884	0.69065	0.0:0.0:0.0:1.0	.	363;363	P05106;Q2YFE1	ITB3_HUMAN;.	T	363;316	ENSP00000407801:S316T	ENSP00000262017:S363T	S	+	1	0	C17orf57	42722601	1.000000	0.71417	0.964000	0.40570	0.936000	0.57629	8.040000	0.89188	2.112000	0.64535	0.379000	0.24179	TCC		PASS	0.498	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		6	270	6	270	---	---	---	---
CUEDC1	404093	broad.mit.edu	37	17	55951058	55951058	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr17:55951058C>G	ENST00000577830.1	-	4	898	c.485G>C	c.(484-486)gGa>gCa	p.G162A	CUEDC1_ENST00000577840.1_Missense_Mutation_p.G25A|CUEDC1_ENST00000360238.2_Missense_Mutation_p.G162A|CUEDC1_ENST00000407144.2_Missense_Mutation_p.G162A	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	162								p.G162A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGTAGGGGCTCCAGAGCCCAG	0.612																																						uc002ivd.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(484-486)GGA>GCA		CUE domain-containing 1							87.0	75.0	79.0					17																	55951058		2203	4300	6503	SO:0001583	missense	404093							g.chr17:55951058C>G	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.485G>C	17.37:g.55951058C>G	ENSP00000462717:p.Gly162Ala					CUEDC1_uc002ive.1_Missense_Mutation_p.G162A	p.G162A	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN			4	1204	-			162					D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	c.485G>C	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846235	0.16963	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.21734	1.99;1.99	5.62	-0.0744	0.13731	.	0.961749	0.08671	N	0.910908	T	0.16428	0.0395	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44081	-0.9351	10	0.02654	T	1	.	8.4557	0.32897	0.0998:0.503:0.3349:0.0623	.	162	Q9NWM3	CUED1_HUMAN	A	162	ENSP00000384712:G162A;ENSP00000353373:G162A	ENSP00000353373:G162A	G	-	2	0	CUEDC1	53306057	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.038000	0.12144	-0.472000	0.06881	-0.795000	0.03280	GGA		PASS	0.612	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		3	115	3	115	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56386399	56386399	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr17:56386399G>C	ENST00000343736.4	-	22	4397	c.4234C>G	c.(4234-4236)Cct>Gct	p.P1412A	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1352A|BZRAP1_ENST00000355701.3_Missense_Mutation_p.P1412A			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1412						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.P1412A(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTTCTCAGGGGAGCCCCCT	0.647																																						uc002ivx.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(4234-4236)CCT>GCT		peripheral benzodiazepine receptor-associated							39.0	47.0	44.0					17																	56386399		2197	4290	6487	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386399G>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4234C>G	17.37:g.56386399G>C	ENSP00000345824:p.Pro1412Ala					BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.P1352A|BZRAP1_uc010wnt.1_Missense_Mutation_p.P1412A	p.P1412A	NM_004758	NP_004749	O95153	RIMB1_HUMAN			22	5105	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1412					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4234C>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901842	0.33535	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04454	3.63;3.62;3.64	5.31	3.22	0.36961	.	0.421766	0.26574	N	0.023608	T	0.05456	0.0144	L	0.36672	1.1	0.09310	N	1	B;P;P	0.41978	0.035;0.767;0.657	B;B;B	0.41510	0.027;0.359;0.197	T	0.23440	-1.0188	10	0.66056	D	0.02	.	9.3791	0.38301	0.0:0.1483:0.6707:0.181	.	1412;1352;1412	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	A	1412;1412;1352	ENSP00000347929:P1412A;ENSP00000345824:P1412A;ENSP00000268893:P1352A	ENSP00000268893:P1352A	P	-	1	0	BZRAP1	53741398	0.906000	0.30813	0.161000	0.22692	0.963000	0.63663	2.046000	0.41260	0.529000	0.28599	0.563000	0.77884	CCT		PASS	0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		25	106	25	106	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60749464	60749464	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr17:60749464C>G	ENST00000303375.5	+	8	1814	c.1412C>G	c.(1411-1413)cCc>cGc	p.P471R		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	471	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.P471R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCTTTGAGCCCAACAACTTC	0.562																																						uc002jad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1411-1413)CCC>CGC		mannose receptor, C type 2							98.0	94.0	95.0					17																	60749464		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60749464C>G	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1412C>G	17.37:g.60749464C>G	ENSP00000307513:p.Pro471Arg					MRC2_uc002jac.2_Missense_Mutation_p.P471R	p.P471R	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			8	1814	+			471			Extracellular (Potential).|C-type lectin 2.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.1412C>G	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747691	0.89663	.	.	ENSG00000011028	ENST00000303375	T	0.70986	-0.53	4.94	4.94	0.65067	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94254	0.7496	10	0.87932	D	0	-26.3009	18.1616	0.89709	0.0:1.0:0.0:0.0	.	471	Q9UBG0	MRC2_HUMAN	R	471	ENSP00000307513:P471R	ENSP00000307513:P471R	P	+	2	0	MRC2	58103196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.279000	0.76181	0.561000	0.74099	CCC		PASS	0.562	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			5	286	5	286	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73492407	73492407	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr17:73492407C>T	ENST00000314256.7	+	24	3492	c.3098C>T	c.(3097-3099)aCc>aTc	p.T1033I	KIAA0195_ENST00000375248.5_Missense_Mutation_p.T1043I|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.T684I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1033						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.T1033I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGGGAGACCTTTGGCTAC	0.627																																						uc002jnz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3097-3099)ACC>ATC		hypothetical protein LOC9772							124.0	99.0	108.0					17																	73492407		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73492407C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3098C>T	17.37:g.73492407C>T	ENSP00000313885:p.Thr1033Ile					KIAA0195_uc010wsa.1_Missense_Mutation_p.T1043I|KIAA0195_uc010wsb.1_Missense_Mutation_p.T673I|KIAA0195_uc002job.3_Missense_Mutation_p.T41I	p.T1033I	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		24	3373	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1033					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3098C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206783	0.39003	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.44482	0.92;0.92	5.54	4.56	0.56223	ATPase, P-type,  transmembrane domain (1);	0.107611	0.64402	D	0.000006	T	0.32882	0.0844	N	0.19112	0.55	0.52501	D	0.999957	B;P;B;P	0.49358	0.437;0.923;0.002;0.666	B;P;B;B	0.47891	0.154;0.56;0.007;0.212	T	0.04961	-1.0915	10	0.30854	T	0.27	-37.2405	10.3322	0.43829	0.0:0.7933:0.1358:0.0709	.	1043;1043;1033;1033	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	I	1033;1043	ENSP00000313885:T1033I;ENSP00000364397:T1043I	ENSP00000313885:T1033I	T	+	2	0	KIAA0195	71004002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.572000	0.60886	1.453000	0.47775	0.561000	0.74099	ACC		PASS	0.627	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		22	148	22	148	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6913673	6913673	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:6913673G>A	ENST00000312053.4	+	11	1169	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	EMR1_ENST00000381404.4_Missense_Mutation_p.E326K|EMR1_ENST00000250572.8_Missense_Mutation_p.E378K|EMR1_ENST00000381407.5_Missense_Mutation_p.E237K|EMR1_ENST00000450315.3_Missense_Mutation_p.E201K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	378	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E378K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAATACAACTGAGAGCTTTGT	0.438																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1132-1134)GAG>AAG		egf-like module containing, mucin-like, hormone							73.0	70.0	71.0					19																	6913673		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913673G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1132G>A	19.37:g.6913673G>A	ENSP00000311545:p.Glu378Lys					EMR1_uc010dvc.2_Missense_Mutation_p.E378K|EMR1_uc010dvb.2_Missense_Mutation_p.E326K|EMR1_uc010xji.1_Missense_Mutation_p.E237K|EMR1_uc010xjj.1_Missense_Mutation_p.E201K	p.E378K	NM_001974	NP_001965	Q14246	EMR1_HUMAN			11	1170	+	all_hematologic(4;0.166)		378			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1132G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	9.932	1.215128	0.22373	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78595	-1.12;-1.17;-1.19;0.04;0.36	4.99	0.309	0.15820	.	.	.	.	.	T	0.64068	0.2565	L	0.41027	1.25	0.09310	N	1	B;B;B;B;B	0.22080	0.064;0.024;0.041;0.024;0.024	B;B;B;B;B	0.19391	0.025;0.005;0.011;0.005;0.007	T	0.46331	-0.9199	9	0.19147	T	0.46	.	6.4363	0.21825	0.4506:0.0:0.5494:0.0	.	201;237;378;326;378	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	K	378;378;326;378;237;201	ENSP00000311545:E378K;ENSP00000370811:E326K;ENSP00000250572:E378K;ENSP00000370814:E237K;ENSP00000405974:E201K	ENSP00000250572:E378K	E	+	1	0	EMR1	6864673	0.002000	0.14202	0.008000	0.14137	0.002000	0.02628	0.406000	0.21032	0.112000	0.17975	-0.345000	0.07892	GAG		PASS	0.438	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			21	350	21	350	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6919644	6919644	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:6919644G>C	ENST00000312053.4	+	13	1543	c.1506G>C	c.(1504-1506)ttG>ttC	p.L502F	EMR1_ENST00000381404.4_Missense_Mutation_p.L450F|EMR1_ENST00000250572.8_Missense_Mutation_p.L502F|EMR1_ENST00000381407.5_Missense_Mutation_p.L361F|EMR1_ENST00000450315.3_Missense_Mutation_p.L325F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	502	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L502F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGGCTCCCTTGACCACCTCTG	0.493																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1504-1506)TTG>TTC		egf-like module containing, mucin-like, hormone							133.0	122.0	126.0					19																	6919644		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6919644G>C	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1506G>C	19.37:g.6919644G>C	ENSP00000311545:p.Leu502Phe					EMR1_uc010dvc.2_Missense_Mutation_p.L502F|EMR1_uc010dvb.2_Missense_Mutation_p.L450F|EMR1_uc010xji.1_Missense_Mutation_p.L361F|EMR1_uc010xjj.1_Missense_Mutation_p.L325F	p.L502F	NM_001974	NP_001965	Q14246	EMR1_HUMAN			13	1544	+	all_hematologic(4;0.166)		502			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1506G>C	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296377	0.23650	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79352	-1.21;-1.22;-1.26;-0.05;0.28	3.99	0.221	0.15283	.	.	.	.	.	T	0.61974	0.2390	L	0.44542	1.39	0.09310	N	1	P;B;B;P;B	0.40144	0.704;0.346;0.418;0.483;0.294	B;B;B;B;B	0.36504	0.151;0.151;0.226;0.113;0.113	T	0.50268	-0.8848	9	0.09590	T	0.72	.	6.2014	0.20577	0.0:0.1851:0.4347:0.3802	.	325;361;502;450;502	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	F	502;502;450;502;361;325	ENSP00000311545:L502F;ENSP00000370811:L450F;ENSP00000250572:L502F;ENSP00000370814:L361F;ENSP00000405974:L325F	ENSP00000250572:L502F	L	+	3	2	EMR1	6870644	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.332000	0.19751	0.046000	0.15833	0.491000	0.48974	TTG		PASS	0.493	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			48	846	48	846	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6919665	6919665	+	Silent	SNP	G	G	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:6919665G>T	ENST00000312053.4	+	13	1564	c.1527G>T	c.(1525-1527)ctG>ctT	p.L509L	EMR1_ENST00000381404.4_Silent_p.L457L|EMR1_ENST00000250572.8_Silent_p.L509L|EMR1_ENST00000381407.5_Silent_p.L368L|EMR1_ENST00000450315.3_Silent_p.L332L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	509	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L509L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGATCAAGCTGAAGATGAATT	0.478																																						uc002mfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1525-1527)CTG>CTT		egf-like module containing, mucin-like, hormone							130.0	120.0	123.0					19																	6919665		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6919665G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1527G>T	19.37:g.6919665G>T						EMR1_uc010dvc.2_Silent_p.L509L|EMR1_uc010dvb.2_Silent_p.L457L|EMR1_uc010xji.1_Silent_p.L368L|EMR1_uc010xjj.1_Silent_p.L332L	p.L509L	NM_001974	NP_001965	Q14246	EMR1_HUMAN			13	1565	+	all_hematologic(4;0.166)		509			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1527G>T	CCDS12175.1																																																																																				PASS	0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			46	833	46	833	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9019622	9019622	+	Silent	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:9019622C>T	ENST00000397910.4	-	22	37727	c.37524G>A	c.(37522-37524)cgG>cgA	p.R12508R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12510					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.R12508R(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						GCACAGAGGTCCGATGGGTGA	0.507																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37522-37524)CGG>CGA		mucin 16							152.0	134.0	140.0					19																	9019622		1968	4151	6119	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9019622C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37524G>A	19.37:g.9019622C>T							p.R12508R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			22	37728	-			12510			Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.37524G>A	CCDS54212.1																																																																																				PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		386	49	386	49	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9057251	9057251	+	Silent	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:9057251G>A	ENST00000397910.4	-	3	30398	c.30195C>T	c.(30193-30195)agC>agT	p.S10065S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10067	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.S10065S(1)|p.S5698S(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						CAGGTTCTGTGCTTGTGTCTG	0.468																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30193-30195)AGC>AGT		mucin 16							95.0	87.0	89.0					19																	9057251		1964	4172	6136	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057251G>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.30195C>T	19.37:g.9057251G>A							p.S10065S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30399	-			10067			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30195C>T	CCDS54212.1																																																																																				PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	411	9	411	---	---	---	---
ICAM3	3385	broad.mit.edu	37	19	10449393	10449393	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:10449393G>C	ENST00000160262.5	-	2	516	c.308C>G	c.(307-309)tCt>tGt	p.S103C	ICAM3_ENST00000589261.1_Missense_Mutation_p.S26C	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	103	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)	p.S103C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TGTTATCTGAGAGCCATTGCA	0.567																																						uc002mob.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(307-309)TCT>TGT		intercellular adhesion molecule 3 precursor							97.0	74.0	82.0					19																	10449393		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10449393G>C		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.308C>G	19.37:g.10449393G>C	ENSP00000160262:p.Ser103Cys					ICAM3_uc010dxd.1_Missense_Mutation_p.S26C|ICAM3_uc010xlf.1_Missense_Mutation_p.S26C	p.S103C	NM_002162	NP_002153	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		2	363	-			103			Extracellular (Potential).|Ig-like C2-type 1.		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.308C>G	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310740	0.40895	.	.	ENSG00000076662	ENST00000160262	T	0.15372	2.43	4.93	-0.424	0.12321	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	1.199000	0.06084	N	0.662432	T	0.26666	0.0652	L	0.44542	1.39	0.09310	N	1	P;P	0.52170	0.951;0.951	P;P	0.61275	0.855;0.886	T	0.20405	-1.0276	10	0.56958	D	0.05	-8.5935	3.7597	0.08599	0.3356:0.0:0.4997:0.1647	.	26;103	B7Z6W6;P32942	.;ICAM3_HUMAN	C	103	ENSP00000160262:S103C	ENSP00000160262:S103C	S	-	2	0	ICAM3	10310393	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.508000	0.06344	-0.062000	0.13088	-0.229000	0.12294	TCT		PASS	0.567	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			17	289	17	289	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14752416	14752416	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:14752416C>A	ENST00000253673.5	-	10	1163	c.1063G>T	c.(1063-1065)Gtg>Ttg	p.V355L	EMR3_ENST00000443157.2_Missense_Mutation_p.V229L|EMR3_ENST00000599900.1_Missense_Mutation_p.V140L|EMR3_ENST00000344373.4_Missense_Mutation_p.V303L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	355					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.V355L(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						ACAGTCAGCACGGGATCCTCC	0.567																																						uc002mzi.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1063-1065)GTG>TTG		egf-like module-containing mucin-like receptor							67.0	57.0	60.0					19																	14752416		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.chr19:14752416C>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.1063G>T	19.37:g.14752416C>A	ENSP00000253673:p.Val355Leu					EMR3_uc010dzp.2_Missense_Mutation_p.V303L|EMR3_uc010xnv.1_Missense_Mutation_p.V229L	p.V355L	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			10	1211	-			355			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1063G>T	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	9.447	1.089593	0.20390	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.35421	1.31;1.31;1.31	3.68	0.0662	0.14360	.	.	.	.	.	T	0.26593	0.0650	L	0.39566	1.225	0.09310	N	1	B;B;B	0.21309	0.049;0.039;0.054	B;B;B	0.31101	0.079;0.047;0.124	T	0.35968	-0.9767	9	0.21014	T	0.42	.	5.1966	0.15241	0.0:0.6234:0.1697:0.2069	.	229;303;355	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	L	229;355;303	ENSP00000396208:V229L;ENSP00000253673:V355L;ENSP00000340758:V303L	ENSP00000253673:V355L	V	-	1	0	EMR3	14613416	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.523000	0.02235	-0.062000	0.13088	0.561000	0.74099	GTG		PASS	0.567	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		3	67	3	67	---	---	---	---
BIRC8	112401	broad.mit.edu	37	19	53793567	53793567	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:53793567C>G	ENST00000426466.1	-	1	1308	c.61G>C	c.(61-63)Gag>Cag	p.E21Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	21					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.E21Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GCAAGCTGCTCTTTGTTAACG	0.453																																						uc002qbk.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(61-63)GAG>CAG		baculoviral IAP repeat-containing 8							69.0	73.0	72.0					19																	53793567		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793567C>G	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.61G>C	19.37:g.53793567C>G	ENSP00000412957:p.Glu21Gln						p.E21Q	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1309	-			21			BIR.		Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.61G>C	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609330	0.46527	.	.	ENSG00000163098	ENST00000426466	T	0.73575	-0.76	0.338	0.338	0.15974	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.78566	0.4303	M	0.64260	1.97	0.51233	D	0.999919	D	0.71674	0.998	D	0.64237	0.923	T	0.75193	-0.3404	9	0.49607	T	0.09	-9.4392	6.5744	0.22557	0.0:0.9998:0.0:2.0E-4	.	21	Q96P09	BIRC8_HUMAN	Q	21	ENSP00000412957:E21Q	ENSP00000412957:E21Q	E	-	1	0	BIRC8	58485379	1.000000	0.71417	0.387000	0.26183	0.247000	0.25773	4.699000	0.61796	0.451000	0.26802	0.134000	0.15878	GAG		PASS	0.453	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		41	84	41	84	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57329195	57329195	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr19:57329195C>T	ENST00000326441.9	-	9	1144	c.781G>A	c.(781-783)Gct>Act	p.A261T	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A137T|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A135T|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A261T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	261					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A261T(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGTCTTCAGCAAGCTGCACT	0.502																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(781-783)GCT>ACT		paternally expressed 3 isoform 1							140.0	101.0	114.0					19																	57329195		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57329195C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.781G>A	19.37:g.57329195C>T	ENSP00000326581:p.Ala261Thr					ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Missense_Mutation_p.A261T|PEG3_uc002qnw.2_Missense_Mutation_p.A137T|PEG3_uc002qnx.2_Missense_Mutation_p.A135T|PEG3_uc010etr.2_Missense_Mutation_p.A261T	p.A261T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	1132	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	261					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.781G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487018	0.84854	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	4.28	4.28	0.50868	.	0.000000	0.42172	D	0.000752	T	0.06690	0.0171	L	0.27053	0.805	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.51108	-0.8747	9	0.22109	T	0.4	-26.1833	12.5175	0.56040	0.0:1.0:0.0:0.0	.	137;261	A7E2B8;Q9GZU2	.;PEG3_HUMAN	T	261	ENSP00000326581:A261T;ENSP00000403051:A261T	ENSP00000326581:A261T	A	-	1	0	ZIM2	62021007	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	1.813000	0.38962	2.676000	0.91093	0.655000	0.94253	GCT		PASS	0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			10	28	10	28	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546970	9546970	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr20:9546970G>A	ENST00000378429.3	-	6	1598	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	PAK7_ENST00000378423.1_Missense_Mutation_p.P351L|PAK7_ENST00000353224.5_Missense_Mutation_p.P351L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	351	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P351L(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGGCCCCTGGGGTAGGTGTC	0.527																																						uc002wnl.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1051-1053)CCC>CTC		p21-activated kinase 7							125.0	127.0	126.0					20																	9546970		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546970G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1052C>T	20.37:g.9546970G>A	ENSP00000367686:p.Pro351Leu					PAK7_uc002wnk.2_Missense_Mutation_p.P351L|PAK7_uc002wnj.2_Missense_Mutation_p.P351L|PAK7_uc010gby.1_Missense_Mutation_p.P351L	p.P351L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1597	-			351			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1052C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896358	0.72639	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.74315	-0.83;-0.83;-0.83	5.94	5.94	0.96194	.	0.140195	0.64402	D	0.000003	D	0.84451	0.5475	L	0.55481	1.735	0.80722	D	1	D;B	0.89917	1.0;0.033	D;B	0.85130	0.997;0.015	T	0.81786	-0.0773	9	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	351;351	B0AZM9;Q9P286	.;PAK7_HUMAN	L	351;351;351;299	ENSP00000367686:P351L;ENSP00000322957:P351L;ENSP00000367679:P351L	.	P	-	2	0	PAK7	9494970	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.374000	0.73132	2.807000	0.96579	0.591000	0.81541	CCC		PASS	0.527	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			74	192	74	192	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25656577	25656577	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr20:25656577T>A	ENST00000376436.1	-	4	1886	c.1347A>T	c.(1345-1347)aaA>aaT	p.K449N	ZNF337_ENST00000252979.5_Missense_Mutation_p.K449N|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.K417N|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	449					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.K449N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGATCTGATGTTTCACAAGGG	0.448																																						uc002wva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1345-1347)AAA>AAT		zinc finger protein 337							155.0	130.0	139.0					20																	25656577		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25656577T>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1347A>T	20.37:g.25656577T>A	ENSP00000365619:p.Lys449Asn					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.K417N|ZNF337_uc002wvb.2_Missense_Mutation_p.K449N|ZNF337_uc002wvc.2_Missense_Mutation_p.K449N	p.K449N	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1869	-			449			C2H2-type 10.		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1347A>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	3.575	-0.086759	0.07097	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.20598	2.06;2.06;2.06	1.1	-2.21	0.06973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10380	0.0254	N	0.25992	0.78	0.09310	N	0.999997	B;B	0.15473	0.013;0.013	B;B	0.12156	0.007;0.007	T	0.35773	-0.9775	9	0.16420	T	0.52	.	2.5961	0.04855	0.4099:0.3345:0.0:0.2556	.	417;449	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	N	449;449;449;417	ENSP00000365619:K449N;ENSP00000252979:K449N;ENSP00000442181:K417N	ENSP00000252979:K449N	K	-	3	2	ZNF337	25604577	0.000000	0.05858	0.001000	0.08648	0.328000	0.28507	-2.792000	0.00766	-2.071000	0.00880	-0.956000	0.02647	AAA		PASS	0.448	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	189	9	189	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31413746	31413746	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr20:31413746G>A	ENST00000375571.5	+	2	152	c.13G>A	c.(13-15)Gta>Ata	p.V5I		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	5					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.V5I(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GGCAGTGAACGTATACTCAAC	0.443																																						uc002wyh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GTA>ATA		microtubule-associated protein, RP/EB family,							137.0	114.0	122.0					20																	31413746		2203	4300	6503	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31413746G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.13G>A	20.37:g.31413746G>A	ENSP00000364721:p.Val5Ile						p.V5I	NM_012325	NP_036457	Q15691	MARE1_HUMAN			2	152	+			5					B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.13G>A	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284204	0.80803	.	.	ENSG00000101367	ENST00000375571	T	0.46819	0.86	5.76	5.76	0.90799	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.57130	1.785	0.80722	D	1	B	0.18741	0.03	B	0.12837	0.008	T	0.44667	-0.9313	10	0.66056	D	0.02	-3.707	18.9739	0.92728	0.0:0.0:1.0:0.0	.	5	Q15691	MARE1_HUMAN	I	5	ENSP00000364721:V5I	ENSP00000364721:V5I	V	+	1	0	MAPRE1	30877407	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.796000	0.85898	2.706000	0.92434	0.655000	0.94253	GTA		PASS	0.443	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		4	109	4	109	---	---	---	---
PACSIN2	11252	broad.mit.edu	37	22	43280505	43280505	+	Silent	SNP	C	C	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr22:43280505C>T	ENST00000263246.3	-	6	873	c.672G>A	c.(670-672)gaG>gaA	p.E224E	PACSIN2_ENST00000403744.3_Silent_p.E224E|PACSIN2_ENST00000337959.4_Silent_p.E224E|PACSIN2_ENST00000402229.1_Silent_p.E224E|PACSIN2_ENST00000407585.1_Silent_p.E224E	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	224	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.E224E(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GCTCCATGTTCTCCATGTACT	0.517																																						uc010gzg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(670-672)GAG>GAA		protein kinase C and casein kinase substrate in							128.0	136.0	134.0					22																	43280505		2203	4300	6503	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43280505C>T	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.672G>A	22.37:g.43280505C>T						PACSIN2_uc003bdg.3_Silent_p.E224E|PACSIN2_uc003bde.3_Silent_p.E224E|PACSIN2_uc003bdf.3_Silent_p.E224E	p.E224E	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			6	894	-		Glioma(61;0.222)	224					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.672G>A	CCDS43023.1																																																																																				PASS	0.517	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		13	185	13	185	---	---	---	---
GPR173	54328	broad.mit.edu	37	X	53106311	53106311	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chrX:53106311G>A	ENST00000332582.4	+	2	999	c.508G>A	c.(508-510)Gag>Aag	p.E170K		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	170					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.E170K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTTTATTCGGGAGGAGGACCA	0.557																																						uc004dru.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(508-510)GAG>AAG		G protein-coupled receptor 173							60.0	52.0	55.0					X																	53106311		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106311G>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.508G>A	X.37:g.53106311G>A	ENSP00000331600:p.Glu170Lys						p.E170K	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	766	+			170			Extracellular (Potential).		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.508G>A	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185926	0.78789	.	.	ENSG00000184194	ENST00000332582	T	0.37235	1.21	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.059442	0.64402	D	0.000005	T	0.48822	0.1521	M	0.72118	2.19	0.80722	D	1	P	0.46142	0.873	P	0.51945	0.685	T	0.46470	-0.9189	10	0.33940	T	0.23	-9.7005	13.3576	0.60638	0.0:0.0:1.0:0.0	.	170	Q9NS66	GP173_HUMAN	K	170	ENSP00000331600:E170K	ENSP00000331600:E170K	E	+	1	0	GPR173	53123036	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.657000	0.98554	2.010000	0.58986	0.529000	0.55759	GAG		PASS	0.557	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		3	34	3	34	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70603899	70603899	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chrX:70603899C>G	ENST00000373790.4	+	13	2083	c.2032C>G	c.(2032-2034)Ctt>Gtt	p.L678V	TAF1_ENST00000423759.1_Missense_Mutation_p.L699V|TAF1_ENST00000449580.1_Missense_Mutation_p.L678V|TAF1_ENST00000276072.3_Missense_Mutation_p.L699V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	678	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L678V(1)|p.L699V(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGATGGTGATCTTATTCTTGC	0.443																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2032-2034)CTT>GTT		TBP-associated factor 1 isoform 2							181.0	147.0	159.0					X																	70603899		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603899C>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2032C>G	X.37:g.70603899C>G	ENSP00000362895:p.Leu678Val					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.L699V	p.L678V	NM_138923	NP_620278	P21675	TAF1_HUMAN			13	2083	+	Renal(35;0.156)	all_lung(315;0.000321)	678					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2032C>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.361387	0.82353	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	N	0.17564	0.495	0.80722	D	1	P;P	0.46064	0.872;0.569	P;P	0.55667	0.781;0.455	T	0.07347	-1.0777	10	0.24483	T	0.36	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	678;699	P21675;P21675-2	TAF1_HUMAN;.	V	678;678;699;699	ENSP00000362895:L678V;ENSP00000389000:L678V;ENSP00000406549:L699V;ENSP00000276072:L699V	ENSP00000276072:L699V	L	+	1	0	TAF1	70520624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.370000	0.79589	2.474000	0.83562	0.600000	0.82982	CTT		PASS	0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		3	111	3	111	---	---	---	---
MAGT1	84061	broad.mit.edu	37	X	77150833	77150833	+	Silent	SNP	G	G	C			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chrX:77150833G>C	ENST00000373336.3	-	1	104	c.75C>G	c.(73-75)ccC>ccG	p.P25P	MAGT1_ENST00000358075.6_Silent_p.P57P			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	25					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.P25P(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGAGGCTGAGGGAACGTCGC	0.562																																						uc004fof.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(169-171)CCC>CCG		magnesium transporter 1							127.0	88.0	101.0					X																	77150833		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77150833G>C		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.75C>G	X.37:g.77150833G>C						MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Silent_p.P57P	p.P57P	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			1	233	-			25					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000373336.3	37	c.171C>G																																																																																					PASS	0.562	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		14	15	14	15	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123775819	123775819	+	Silent	SNP	A	A	G			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chrX:123775819A>G	ENST00000371130.3	-	11	1962	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	TENM1_ENST00000422452.2_Silent_p.C633C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	633	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.C635C(1)									CATGGTTGGAACACATTGGGT	0.468																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1897-1899)TGT>TGC		odz, odd Oz/ten-m homolog 1 isoform 3							209.0	186.0	194.0					X																	123775819		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123775819A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1899T>C	X.37:g.123775819A>G						ODZ1_uc011muj.1_Silent_p.C632C|ODZ1_uc010nqy.2_Silent_p.C633C	p.C633C	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			11	1963	-			633			EGF-like 4.|Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.1899T>C	CCDS14609.1																																																																																				PASS	0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		125	90	125	90	---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220363047	220363048	+	Frame_Shift_Ins	INS	-	-	T			TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr1:220363047_220363048insT	ENST00000358951.2	-	17	1892_1893	c.1776_1777insA	c.(1774-1779)aaacaafs	p.Q593fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	593					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACACTTACTTGTTTTTTGGTTG	0.267																																						uc010puk.1																			0				central_nervous_system(1)	1						c.(1774-1779)AAACAAfs		rab3 GTPase-activating protein, non-catalytic																																				SO:0001589	frameshift_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220363047_220363048insT	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1777dupA	1.37:g.220363053_220363053dupT	ENSP00000351832:p.Gln593fs					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Frame_Shift_Ins_p.K172fs	p.K592fs	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	17	1940_1941	-			592_593					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Frame_Shift_Ins	INS	ENST00000358951.2	37	c.1776_1777insA	CCDS31028.1																																																																																					0.267	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		4	2	4	2	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48881488	48881489	+	Frame_Shift_Ins	INS	-	-	AG	rs587778862		TCGA-22-4607-01A-01D-1267-08	TCGA-22-4607-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0	d9a1bd0a-4bcd-4a79-8823-353a62b749fd	g.chr13:48881488_48881489insAG	ENST00000267163.4	+	2	348_349	c.210_211insAG	c.(211-213)agafs	p.R71fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	71					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.V70fs*39(1)		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)"""	CAGATCATGTCAGAGAGAGAGC	0.312		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		19	Whole gene deletion(15)|Unknown(3)|Insertion - Frameshift(1)	p.0?(13)|p.?(3)|p.V70fs*39(1)	bone(10)|eye(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|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.(208-213)GTCAGAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_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.chr13:48881488_48881489insAG	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.219_220dupAG	13.37:g.48881497_48881498dupAG	ENSP00000267163:p.Arg71fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.V70fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	376_377	+		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)	70_71					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.210_211insAG	CCDS31973.1																																																																																					0.312	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			65	33	65	33	---	---	---	---
