#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_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
TAS1R1	80835	broad.mit.edu	37	1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T	rs199550568	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:6631015C>T	ENST00000333172.6	+	2	431	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	80					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20054	0.0		0.0	False		,,,				2504	0.001					uc001ant.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(238-240)CGG>TGG		sweet taste receptor T1r isoform b		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	124.0	128.0		238,238	1.7	0.9	1		128	0,8600		0,0,4300	no	missense,missense	TAS1R1	NM_138697.3,NM_177540.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/842,80/588	6631015	1,13005	2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6631015C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.238C>T	1.37:g.6631015C>T	ENSP00000331867:p.Arg80Trp					TAS1R1_uc001anu.2_Missense_Mutation_p.R80W|TAS1R1_uc001anv.2_Missense_Mutation_p.R80W|TAS1R1_uc001anw.2_Missense_Mutation_p.R80W	p.R80W	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	238	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	80			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.238C>T	CCDS81.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.31	2.496650	0.44352	2.27E-4	0.0	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136	D;D;D	0.83992	-1.79;-1.79;-1.79	5.08	1.71	0.24356	Extracellular ligand-binding receptor (1);	0.129993	0.49916	D	0.000139	D	0.90546	0.7037	M	0.85041	2.73	0.36559	D	0.872319	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.91635	0.999;0.992;0.897;0.999	D	0.92403	0.5931	10	0.66056	D	0.02	.	12.478	0.55825	0.5223:0.4777:0.0:0.0	.	80;80;80;80	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	W	80;80;2;80	ENSP00000331867:R80W;ENSP00000327705:R80W;ENSP00000312558:R80W	ENSP00000327705:R80W	R	+	1	2	TAS1R1	6553602	0.584000	0.26766	0.906000	0.35671	0.335000	0.28730	0.314000	0.19432	0.497000	0.27926	-0.158000	0.13435	CGG		0.532	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
RERE	473	broad.mit.edu	37	1	8419927	8419927	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:8419927C>T	ENST00000337907.3	-	20	4149	c.3515G>A	c.(3514-3516)cGc>cAc	p.R1172H	RERE_ENST00000400908.2_Missense_Mutation_p.R1172H|RERE_ENST00000476556.1_Missense_Mutation_p.R618H|RERE_ENST00000377464.1_Missense_Mutation_p.R904H|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1172					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGCCTCGCGCTTGGCCTT	0.662																																						uc001ape.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3514-3516)CGC>CAC		atrophin-1 like protein isoform a							53.0	54.0	53.0					1																	8419927		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8419927C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3515G>A	1.37:g.8419927C>T	ENSP00000338629:p.Arg1172His					RERE_uc001apf.2_Missense_Mutation_p.R1172H|RERE_uc001apd.2_Missense_Mutation_p.R618H	p.R1172H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	20	4325	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1172			Potential.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3515G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952077	0.73787	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.42	5.42	0.78866	.	.	.	.	.	T	0.42698	0.1214	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.68943	0.961	T	0.31392	-0.9945	9	0.72032	D	0.01	-10.7748	18.1999	0.89834	0.0:1.0:0.0:0.0	.	1172	Q9P2R6	RERE_HUMAN	H	1172;904;618;1172	ENSP00000338629:R1172H;ENSP00000366684:R904H;ENSP00000422246:R618H;ENSP00000383700:R1172H	ENSP00000338629:R1172H	R	-	2	0	RERE	8342514	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	7.421000	0.80204	2.520000	0.84964	0.655000	0.94253	CGC		0.662	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
MIR34A	407040	broad.mit.edu	37	1	9211835	9211835	+	RNA	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:9211835C>T	ENST00000385130.1	-	0	1					NR_029610.1				microRNA 34a																		TCACAGCTGGCCGGTCCACGG	0.542																																						uc009vmq.2																			0											c.(340-342)GCC>ACC		EF609116							119.0	114.0	116.0					1																	9211835		1568	3582	5150			0							g.chr1:9211835C>T			1p36.22|1p36.22	2011-09-12		2008-12-18	ENSG00000207865	ENSG00000207865		"""ncRNAs / Micro RNAs"""	31635	non-coding RNA	RNA, micro		611172		MIRN34A			Standard	NR_029610		Approved	hsa-mir-34a					1.37:g.9211835C>T						MIR34A_hsa-mir-34a|MI0000268_RNA	p.A114T							2	446	-									Missense_Mutation	SNP	ENST00000385130.1	37	c.340G>A																																																																																					0.542	MIR34A-201	KNOWN	basic	miRNA	miRNA		NR_029610	
HTR6	3362	broad.mit.edu	37	1	19992747	19992747	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:19992747C>T	ENST00000289753.1	+	1	968	c.501C>T	c.(499-501)caC>caT	p.H167H		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	167					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TGGGCTGGCACGAGCTGGGCC	0.711																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2																			0				ovary(1)	1						c.(499-501)CAC>CAT		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						29.0	30.0	30.0					1																	19992747		2200	4295	6495	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992747C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.501C>T	1.37:g.19992747C>T							p.H167H	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	968	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	167			Extracellular (By similarity).		Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.501C>T	CCDS197.1																																																																																				0.711	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871	
RNF19B	127544	broad.mit.edu	37	1	33402782	33402782	+	Silent	SNP	C	C	T	rs182126539		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:33402782C>T	ENST00000373456.7	-	9	1823	c.1824G>A	c.(1822-1824)acG>acA	p.T608T	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Silent_p.T607T	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	608					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGAGTCCTCCGTGCTGCTTC	0.502													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20664	0.0		0.0	False		,,,				2504	0.0					uc010oho.1																			0					0						c.(1822-1824)ACG>ACA		ring finger protein 19B isoform a							143.0	132.0	136.0					1																	33402782		2203	4300	6503	SO:0001819	synonymous_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402782C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1824G>A	1.37:g.33402782C>T						RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.T607T	p.T608T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN			9	1824	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	608					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Silent	SNP	ENST00000373456.7	37	c.1824G>A	CCDS372.2																																																																																				0.502	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341	
COL9A2	1298	broad.mit.edu	37	1	40770007	40770007	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:40770007G>A	ENST00000372748.3	-	24	1368	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	424	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCCTTTGACGCCTGGCAAGC	0.607																																						uc001cfh.1																			0				ovary(2)	2						c.(1270-1272)GGC>GGT		alpha 2 type IX collagen precursor							26.0	26.0	26.0					1																	40770007		2180	4268	6448	SO:0001819	synonymous_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40770007G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1272C>T	1.37:g.40770007G>A						COL9A2_uc001cfi.1_Silent_p.G243G	p.G424G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		24	1342	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	424			Triple-helical region 3 (COL3).		B2RMP9	Silent	SNP	ENST00000372748.3	37	c.1272C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057765	0.19907	.	.	ENSG00000049089	ENST00000427563	.	.	.	5.49	2.42	0.29668	.	.	.	.	.	T	0.56978	0.2022	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56721	-0.7932	5	0.66056	D	0.02	.	3.4748	0.07581	0.0842:0.1443:0.4946:0.2769	.	.	.	.	V	28	.	ENSP00000407377:A28V	A	-	2	0	COL9A2	40542594	0.999000	0.42202	1.000000	0.80357	0.328000	0.28507	0.418000	0.21230	0.680000	0.31366	-0.224000	0.12420	GCG		0.607	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	
LRRC7	57554	broad.mit.edu	37	1	70504762	70504762	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:70504762G>C	ENST00000035383.5	+	19	3171	c.3141G>C	c.(3139-3141)agG>agC	p.R1047S	LRRC7_ENST00000310961.5_Missense_Mutation_p.R1052S|LRRC7_ENST00000415775.2_Missense_Mutation_p.R331S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1047						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGAAAAGAGGATACCACCCC	0.448																																						uc001dep.2																			0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3139-3141)AGG>AGC		leucine rich repeat containing 7							65.0	69.0	68.0					1																	70504762		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504762G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3141G>C	1.37:g.70504762G>C	ENSP00000035383:p.Arg1047Ser					LRRC7_uc009wbg.2_Missense_Mutation_p.R331S|LRRC7_uc001deq.2_Missense_Mutation_p.R288S	p.R1047S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3171	+			1047					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3141G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.116072	0.08831	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38077	1.16;1.24;2.33	5.41	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.50333	1.59	0.41845	D	0.99014	D;D;D	0.71674	0.998;0.989;0.981	D;D;D	0.75020	0.971;0.985;0.966	T	0.22695	-1.0209	10	0.12430	T	0.62	.	6.9504	0.24542	0.1521:0.143:0.7049:0.0	.	331;1047;1047	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1052;1047;331;870	ENSP00000309245:R1052S;ENSP00000035383:R1047S;ENSP00000394867:R331S	ENSP00000035383:R1047S	R	+	3	2	LRRC7	70277350	1.000000	0.71417	0.991000	0.47740	0.013000	0.08279	2.999000	0.49473	0.646000	0.30693	-0.302000	0.09304	AGG		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
PTGFR	5737	broad.mit.edu	37	1	78958623	78958623	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:78958623G>A	ENST00000370757.3	+	2	432	c.195G>A	c.(193-195)tcG>tcA	p.S65S	PTGFR_ENST00000370756.3_Silent_p.S65S|PTGFR_ENST00000370758.1_Silent_p.S65S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	65					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.S65S(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CCAAGGCATCGTTTCTGCTTT	0.423																																						uc001din.2																			2	Substitution - coding silent(2)		large_intestine(2)	ovary(3)|breast(2)|skin(1)	6						c.(193-195)TCG>TCA		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						124.0	119.0	121.0					1																	78958623		2203	4300	6503	SO:0001819	synonymous_variant	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958623G>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.195G>A	1.37:g.78958623G>A						PTGFR_uc001dim.2_Silent_p.S65S	p.S65S	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	461	+			65			Cytoplasmic (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	c.195G>A	CCDS686.1																																																																																				0.423	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
GBP4	115361	broad.mit.edu	37	1	89650937	89650937	+	Nonstop_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:89650937T>A	ENST00000355754.6	-	11	2020	c.1923A>T	c.(1921-1923)taA>taT	p.*641Y	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTCAGGCTCTTAAATACGTG	0.343																																						uc001dnb.2																			0					0						c.(1921-1923)TAA>TAT		guanylate binding protein 4							71.0	66.0	68.0					1																	89650937		2203	4300	6503	SO:0001578	stop_lost	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89650937T>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1923A>T	1.37:g.89650937T>A							p.*641Y	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	11	2039	-			641					B2R630|Q05D63|Q6NSL0|Q86T99	Nonstop_Mutation	SNP	ENST00000355754.6	37	c.1923A>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	T	3.471	-0.107978	0.06924	.	.	ENSG00000162654	ENST00000355754	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3111	0.37905	0.0:0.0:0.0:1.0	.	.	.	.	Y	641	.	.	X	-	3	2	GBP4	89423525	0.000000	0.05858	0.015000	0.15790	0.084000	0.17831	-0.006000	0.12833	1.750000	0.51863	0.529000	0.55759	TAA		0.343	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941	
MAB21L3	126868	broad.mit.edu	37	1	116670945	116670945	+	Silent	SNP	G	G	A	rs148441950		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:116670945G>A	ENST00000369500.3	+	6	1105	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	280										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CGGTTATCACGTCCCACCATC	0.582																																						uc001egc.1																			0					0						c.(838-840)ACG>ACA		hypothetical protein LOC126868		G		0,4406		0,0,2203	42.0	38.0	40.0		840	-7.7	0.3	1	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAB21L3	NM_152367.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		280/363	116670945	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116670945G>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.840G>A	1.37:g.116670945G>A							p.T280T	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1105	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	280					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.840G>A	CCDS886.1																																																																																				0.582	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367	
NBPF9	400818	broad.mit.edu	37	1	144823890	144823890	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:144823890C>G	ENST00000281815.8	+	9	958	c.212C>G	c.(211-213)tCa>tGa	p.S71*	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_Nonsense_Mutation_p.S386*|NBPF9_ENST00000338347.4_Nonsense_Mutation_p.S386*			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	719						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TCAACTCCTTCAGGTTGTCTT	0.483																																						uc009wig.1																			0					0						c.(1930-1932)TCA>TGA		hypothetical protein LOC400818																																				SO:0001587	stop_gained	400818					cytoplasm		g.chr1:144823890C>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.212C>G	1.37:g.144823890C>G	ENSP00000281815:p.Ser71*					NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Nonsense_Mutation_p.S445*|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Nonsense_Mutation_p.S304*	p.S644*	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			17	2007	+			644			NBPF 4.			Nonsense_Mutation	SNP	ENST00000281815.8	37	c.1931C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.321870|6.321870	0.97471|0.97471	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491;ENST00000281815	.|.	.|.	.|.	0.431|0.431	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|.	0.39655|.	0.1086|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35943|.	-0.9768|.	2|.	.|0.62326	.|D	.|0.03	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	E|X	385|386;386;71	.|.	.|ENSP00000281815:S71X	Q|S	+|+	1|2	0|0	NBPF9|NBPF9	143535247|143535247	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.011000|0.011000	0.07611|0.07611	-0.247000|-0.247000	0.08866|0.08866	0.482000|0.482000	0.27582|0.27582	0.194000|0.194000	0.17425|0.17425	CAG|TCA		0.483	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675	
FLG	2312	broad.mit.edu	37	1	152283564	152283564	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:152283564C>A	ENST00000368799.1	-	3	3833	c.3798G>T	c.(3796-3798)caG>caT	p.Q1266H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1266	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGGATCCCTGGTGCCTGC	0.562									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3796-3798)CAG>CAT		filaggrin							268.0	252.0	257.0					1																	152283564		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283564C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3798G>T	1.37:g.152283564C>A	ENSP00000357789:p.Gln1266His					uc001ezv.2_5'Flank	p.Q1266H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3834	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1266			Ser-rich.|Filaggrin 7.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3798G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.840	-0.240689	0.05944	.	.	ENSG00000143631	ENST00000368799	T	0.04551	3.6	2.39	-4.13	0.03904	.	.	.	.	.	T	0.01454	0.0047	M	0.67953	2.075	0.09310	N	1	P	0.38335	0.627	B	0.30401	0.115	T	0.37753	-0.9692	9	0.54805	T	0.06	.	3.8633	0.09005	0.0:0.3115:0.3816:0.3069	.	1266	P20930	FILA_HUMAN	H	1266	ENSP00000357789:Q1266H	ENSP00000357789:Q1266H	Q	-	3	2	FLG	150550188	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.236000	0.00546	-0.545000	0.06224	-1.293000	0.01348	CAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:158746549G>A	ENST00000339258.1	-	1	876	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418																																						uc010pir.1																			0					0						c.(877-879)CGT>TGT		olfactory receptor, family 6, subfamily N,		G	CYS/ARG	0,4406		0,0,2203	170.0	160.0	163.0		877	4.6	1.0	1	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N2	NM_001005278.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	293/318	158746549	1,13005	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746549G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.877C>T	1.37:g.158746549G>A	ENSP00000344101:p.Arg293Cys						p.R293C	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	877	-	all_hematologic(112;0.0378)		293			Cytoplasmic (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.877C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082889	0.55861	0.0	1.16E-4	ENSG00000188340	ENST00000339258	T	0.40476	1.03	4.64	4.64	0.57946	.	0.000000	0.34156	N	0.004219	T	0.51550	0.1681	M	0.72479	2.2	0.43007	D	0.994533	D	0.89917	1.0	D	0.70227	0.968	T	0.57046	-0.7878	10	0.87932	D	0	-10.9219	10.1599	0.42844	0.0:0.0:0.6865:0.3135	.	293	Q8NGY6	OR6N2_HUMAN	C	293	ENSP00000344101:R293C	ENSP00000344101:R293C	R	-	1	0	OR6N2	157013173	0.876000	0.30132	1.000000	0.80357	0.987000	0.75469	2.117000	0.41939	2.381000	0.81170	0.650000	0.86243	CGT		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
IGSF8	93185	broad.mit.edu	37	1	160064843	160064843	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:160064843G>A	ENST00000368086.1	-	2	474	c.258C>T	c.(256-258)ttC>ttT	p.F86F	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Silent_p.F86F			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	86	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCATAGGAGAACTGGGTAT	0.602																																						uc001fva.2																			0					0						c.(256-258)TTC>TTT		immunoglobulin superfamily, member 8							84.0	80.0	82.0					1																	160064843		2203	4300	6503	SO:0001819	synonymous_variant	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160064843G>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.258C>T	1.37:g.160064843G>A						IGSF8_uc001fuz.2_Silent_p.F86F|IGSF8_uc009wtf.2_Silent_p.F86F	p.F86F	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	303	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		86			Ig-like C2-type 1.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Silent	SNP	ENST00000368086.1	37	c.258C>T	CCDS1195.1																																																																																				0.602	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868	
SEC16B	89866	broad.mit.edu	37	1	177927423	177927423	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:177927423G>A	ENST00000308284.6	-	10	1298	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Silent_p.P404P	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	403					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCACAGGGGGCTGCCGCT	0.587																																						uc001gli.1																			0				ovary(3)|central_nervous_system(1)	4						c.(1207-1209)CCC>CCT		leucine zipper transcription regulator 2							43.0	47.0	46.0					1																	177927423		1981	4160	6141	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177927423G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1209C>T	1.37:g.177927423G>A						SEC16B_uc001glk.1_Silent_p.P80P|SEC16B_uc001glh.1_Silent_p.P62P|SEC16B_uc009wwz.1_Silent_p.P62P|SEC16B_uc001glj.1_Silent_p.P404P|SEC16B_uc001gll.3_Silent_p.P404P	p.P403P	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			10	1299	-			403					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1209C>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521648	0.27211	.	.	ENSG00000120341	ENST00000527976	.	.	.	4.96	-4.21	0.03812	.	0.816060	0.11089	N	0.601016	T	0.33498	0.0865	.	.	.	0.26338	N	0.977413	.	.	.	.	.	.	T	0.40813	-0.9543	6	0.41790	T	0.15	-3.4837	7.7886	0.29106	0.1292:0.538:0.2462:0.0866	.	.	.	.	S	47	.	ENSP00000435101:P47S	P	-	1	0	AL359075.1	176194046	0.000000	0.05858	0.107000	0.21349	0.993000	0.82548	-1.550000	0.02180	-0.622000	0.05626	0.643000	0.83706	CCC		0.587	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
GPATCH2	55105	broad.mit.edu	37	1	217688167	217688167	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:217688167T>C	ENST00000366935.3	-	6	1273	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	388					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TACTCACTCATGGTGATGAGA	0.353																																						uc001hlf.1																			0				ovary(1)	1						c.(1162-1164)CAT>CGT		G patch domain containing 2							44.0	44.0	44.0					1																	217688167		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217688167T>C	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1163A>G	1.37:g.217688167T>C	ENSP00000355902:p.His388Arg						p.H388R	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	6	1259	-			388					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1163A>G	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926117	0.52759	.	.	ENSG00000092978	ENST00000366935	T	0.30182	1.54	5.95	5.95	0.96441	.	0.050878	0.85682	D	0.000000	T	0.32010	0.0815	L	0.57536	1.79	0.80722	D	1	P	0.35077	0.483	B	0.33339	0.162	T	0.05500	-1.0881	10	0.25106	T	0.35	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	388	Q9NW75	GPTC2_HUMAN	R	388	ENSP00000355902:H388R	ENSP00000355902:H388R	H	-	2	0	GPATCH2	215754790	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.178000	0.50879	2.281000	0.76405	0.528000	0.53228	CAT		0.353	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	
NVL	4931	broad.mit.edu	37	1	224514105	224514105	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:224514105T>C	ENST00000281701.6	-	2	378	c.119A>G	c.(118-120)cAa>cGa	p.Q40R	NVL_ENST00000391875.2_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000482491.1_Intron|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.Q40R|NVL_ENST00000361463.3_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	40						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GTACACTCTTTGTAAATCAGA	0.318																																						uc001hok.2																			0				skin(2)	2						c.(118-120)CAA>CGA		nuclear VCP-like isoform 1							98.0	100.0	99.0					1																	224514105		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224514105T>C	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.119A>G	1.37:g.224514105T>C	ENSP00000281701:p.Gln40Arg					NVL_uc001hol.2_Intron|NVL_uc010pvd.1_Missense_Mutation_p.Q40R|NVL_uc010pve.1_Intron|NVL_uc010pvf.1_Intron|NVL_uc010pvg.1_Missense_Mutation_p.Q40R	p.Q40R	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	2	162	-			40					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.119A>G	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325092	0.81580	.	.	ENSG00000143748	ENST00000281701;ENST00000469075;ENST00000488718;ENST00000461546	D;D	0.96136	-3.74;-3.92	5.91	5.91	0.95273	.	0.063428	0.64402	N	0.000005	D	0.96959	0.9007	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.996;0.993;0.999	D;D;D	0.80764	0.986;0.968;0.994	D	0.96669	0.9495	10	0.42905	T	0.14	-16.7907	14.9163	0.70801	0.0:0.0:0.0:1.0	.	40;40;40	B4DF43;B4DP98;O15381	.;.;NVL_HUMAN	R	40	ENSP00000281701:Q40R;ENSP00000417826:Q40R	ENSP00000281701:Q40R	Q	-	2	0	NVL	222580728	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.906000	0.63293	2.261000	0.74972	0.533000	0.62120	CAA		0.318	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
OR4P4	81300	broad.mit.edu	37	11	55406513	55406513	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55406513C>T	ENST00000314612.2	+	1	680	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S227F(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AGAGCATACTCTGCAGAGAGA	0.393																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(679-681)TCT>TTT		olfactory receptor, family 4, subfamily P,							178.0	126.0	144.0					11																	55406513		2181	4026	6207	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406513C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.680C>T	11.37:g.55406513C>T	ENSP00000324831:p.Ser227Phe						p.S227F	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	680	+			227			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.680C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711093	0.30322	.	.	ENSG00000181927	ENST00000314612	T	0.00340	8.04	5.51	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.809565	0.10453	N	0.672817	T	0.00936	0.0031	M	0.91920	3.255	0.09310	N	1	P	0.38767	0.646	P	0.55871	0.786	T	0.22556	-1.0213	10	0.87932	D	0	-3.3875	8.8247	0.35047	0.1492:0.7716:0.0:0.0792	.	227	Q8NGL7	OR4P4_HUMAN	F	227	ENSP00000324831:S227F	ENSP00000324831:S227F	S	+	2	0	OR4P4	55163089	0.012000	0.17670	0.002000	0.10522	0.019000	0.09904	1.469000	0.35343	0.677000	0.31305	0.637000	0.83480	TCT		0.393	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
OR5D16	390144	broad.mit.edu	37	11	55606713	55606713	+	Silent	SNP	G	G	A	rs201981572		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55606713G>A	ENST00000378396.1	+	1	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													-|||	1	0.000199681	0.0	0.0	5008	,	,		19905	0.0		0.001	False		,,,				2504	0.0					uc010rio.1																			0				ovary(4)|skin(1)	5						c.(484-486)GCG>GCA		olfactory receptor, family 5, subfamily D,							155.0	139.0	144.0					11																	55606713		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606713G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.486G>A	11.37:g.55606713G>A							p.A162A	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	486	+		all_epithelial(135;0.208)	162			Helical; Name=4; (Potential).		Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.486G>A	CCDS31512.1																																																																																				0.453	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
PVRL1	5818	broad.mit.edu	37	11	119535607	119535607	+	Nonsense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:119535607G>C	ENST00000264025.3	-	6	1934	c.1404C>G	c.(1402-1404)taC>taG	p.Y468*	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	468					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCACGGTGAAGTAGGGCCGCT	0.667																																						uc001pwv.2																			0					0						c.(1402-1404)TAC>TAG		poliovirus receptor-related 1 isoform 1							52.0	45.0	47.0					11																	119535607		2199	4295	6494	SO:0001587	stop_gained	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535607G>C	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1404C>G	11.37:g.119535607G>C	ENSP00000264025:p.Tyr468*					PVRL1_uc001pwu.1_Intron	p.Y468*	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1576	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	468			Cytoplasmic (Potential).		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Nonsense_Mutation	SNP	ENST00000264025.3	37	c.1404C>G	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	38	7.141812	0.98092	.	.	ENSG00000110400	ENST00000264025	.	.	.	4.08	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8661	0.52495	0.0887:0.0:0.9113:0.0	.	.	.	.	X	468	.	ENSP00000264025:Y468X	Y	-	3	2	PVRL1	119040817	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	1.307000	0.33516	1.027000	0.39758	-0.354000	0.07668	TAC		0.667	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
GPR162	27239	broad.mit.edu	37	12	6939135	6939135	+	IGR	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:6939135G>A	ENST00000311268.3	+	0	2768				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGGGAGTTCGGCCCCAGAGC	0.602																																						uc001qra.1																			0					0						c.(610-612)CGG>CAG		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						58.0	63.0	62.0					12																	6939135		1987	4159	6146	SO:0001628	intergenic_variant	10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6939135G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538			12.37:g.6939135G>A						LEPREL2_uc001qqz.1_Missense_Mutation_p.R11Q|LEPREL2_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q	p.R204Q	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			4	645	+			204					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.611G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908313	0.52333	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.57752	0.38;0.38	4.85	-0.966	0.10320	.	0.439392	0.25192	N	0.032445	T	0.40694	0.1127	.	.	.	0.09310	N	1	D;B	0.63046	0.992;0.0	P;B	0.45538	0.484;0.0	T	0.38845	-0.9642	9	0.38643	T	0.18	-4.5751	6.9396	0.24486	0.3833:0.1198:0.4969:0.0	.	204;227	Q8IVL6;Q13513	P3H3_HUMAN;.	Q	203;19	ENSP00000379951:R203Q;ENSP00000290510:R19Q	ENSP00000290510:R19Q	R	+	2	0	LEPREL2	6809396	0.004000	0.15560	0.052000	0.19188	0.919000	0.55068	0.217000	0.17603	-0.321000	0.08627	-0.458000	0.05436	CGG		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858	
SPX	80763	broad.mit.edu	37	12	21681996	21681996	+	Silent	SNP	G	G	A	rs547568893		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:21681996G>A	ENST00000256969.2	+	5	436	c.270G>A	c.(268-270)gcG>gcA	p.A90A	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		90					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCTTACTGGCGTCCCTTCAGA	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18861	0.0		0.0	False		,,,				2504	0.0					uc001rfa.1																			0					0						c.(268-270)GCG>GCA		spexin precursor							152.0	150.0	150.0					12																	21681996		2203	4300	6503	SO:0001819	synonymous_variant	80763					extracellular region|nucleus|transport vesicle		g.chr12:21681996G>A																												ENST00000256969.2:c.270G>A	12.37:g.21681996G>A						C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_RNA	p.A90A	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN			5	421	+			90					B3KND6	Silent	SNP	ENST00000256969.2	37	c.270G>A	CCDS31757.1																																																																																				0.438	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1		
ITPR2	3709	broad.mit.edu	37	12	26628304	26628304	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:26628304A>G	ENST00000381340.3	-	45	6683	c.6267T>C	c.(6265-6267)caT>caC	p.H2089H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2089					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATCATCCCCATGGTCACATT	0.368																																						uc001rhg.2																			0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(6265-6267)CAT>CAC		inositol 1,4,5-triphosphate receptor, type 2							106.0	110.0	109.0					12																	26628304		1968	4168	6136	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26628304A>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6267T>C	12.37:g.26628304A>G						ITPR2_uc009zjg.1_Silent_p.H240H	p.H2089H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			45	6684	-	Colorectal(261;0.0847)		2089			Cytoplasmic (Potential).		O94773	Silent	SNP	ENST00000381340.3	37	c.6267T>C	CCDS41764.1																																																																																				0.368	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
SCAF11	9169	broad.mit.edu	37	12	46321868	46321868	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:46321868G>C	ENST00000369367.3	-	11	1849	c.1616C>G	c.(1615-1617)aCa>aGa	p.T539R	SCAF11_ENST00000549162.1_Missense_Mutation_p.T347R|SCAF11_ENST00000419565.2_Missense_Mutation_p.T539R|SCAF11_ENST00000465950.1_Missense_Mutation_p.T224R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	539					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACATACATCTGTCTTTACCTC	0.363																																						uc001rox.2																			0					0						c.(1615-1617)ACA>AGA		splicing factor, arginine/serine-rich 2,							111.0	103.0	105.0					12																	46321868		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321868G>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1616C>G	12.37:g.46321868G>C	ENSP00000358374:p.Thr539Arg					SFRS2IP_uc001row.2_Missense_Mutation_p.T224R|SFRS2IP_uc001roy.1_Missense_Mutation_p.T613R	p.T539R	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	1903	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	539					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1616C>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	2.684	-0.274789	0.05679	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.47528	1.45;2.18;1.45;2.18;0.84	5.97	1.88	0.25563	.	0.864813	0.10254	N	0.696830	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.22626	-1.0211	10	0.66056	D	0.02	-0.4142	6.2142	0.20646	0.2005:0.2501:0.5494:0.0	.	347;539	F8VXG7;Q99590	.;SCAFB_HUMAN	R	224;539;347;539;479	ENSP00000449812:T224R;ENSP00000358374:T539R;ENSP00000448864:T347R;ENSP00000413036:T539R;ENSP00000446746:T479R	ENSP00000358374:T539R	T	-	2	0	SCAF11	44608135	0.000000	0.05858	0.004000	0.12327	0.071000	0.16799	0.156000	0.16382	0.404000	0.25506	0.655000	0.94253	ACA		0.363	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SPATS2	65244	broad.mit.edu	37	12	49919998	49919998	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:49919998G>A	ENST00000553127.1	+	15	2111	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	SPATS2_ENST00000321898.6_Missense_Mutation_p.R533H|SPATS2_ENST00000552918.1_Missense_Mutation_p.R533H			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	533						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R533H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTCCCCCAGCGCAAACCCAGG	0.522																																						uc001rud.2																			1	Substitution - Missense(1)	p.R533H(1)	breast(1)	breast(1)	1						c.(1597-1599)CGC>CAC		spermatogenesis associated, serine-rich 2							48.0	49.0	49.0					12																	49919998		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49919998G>A	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1598G>A	12.37:g.49919998G>A	ENSP00000448228:p.Arg533His					SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H|SPATS2_uc001rug.2_Missense_Mutation_p.R533H	p.R533H	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			14	2587	+			533					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.1598G>A	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749215	0.89753	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.56088	0.791	T	0.61681	-0.7013	9	0.49607	T	0.09	-1.7478	15.5728	0.76354	0.0:0.0:1.0:0.0	.	533	Q86XZ4	SPAS2_HUMAN	H	533	.	ENSP00000326841:R533H	R	+	2	0	SPATS2	48206265	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.785000	0.68998	2.635000	0.89317	0.585000	0.79938	CGC		0.522	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071	
MGAT4C	25834	broad.mit.edu	37	12	86373320	86373324	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:86373320_86373324delTTTAC	ENST00000604798.1	-	8	2384_2388	c.1180_1184delGTAAA	c.(1180-1185)gtaaatfs	p.VN394fs	MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.VN394fs|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.VN394fs|MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.VN394fs|MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.VN423fs|MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.VN394fs			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	394					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTTCCAGTATTTACtttaattttt	0.346																																						uc001tai.3																			0				ovary(3)	3						c.(1180-1185)GTAAATfs		alpha-1,3-mannosyl-glycoprotein																																				SO:0001589	frameshift_variant	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373320_86373324delTTTAC		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1180_1184delGTAAA	12.37:g.86373320_86373324delTTTAC	ENSP00000474896:p.Val394fs					MGAT4C_uc001tal.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc010sum.1_Frame_Shift_Del_p.V418fs|MGAT4C_uc001tah.3_Frame_Shift_Del_p.V394fs	p.V394fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2430_2434	-			394_395			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Frame_Shift_Del	DEL	ENST00000604798.1	37	c.1180_1184delGTAAA	CCDS9030.1																																																																																				0.346	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
RFX4	5992	broad.mit.edu	37	12	107033171	107033172	+	Splice_Site	INS	-	-	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:107033171_107033172insT	ENST00000392842.1	+	3	605		c.e3+1		RFX4_ENST00000357881.4_Splice_Site|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTCTGCAATGGTAAGTTTCCAT	0.371																																						uc001tlr.2																			0				upper_aerodigestive_tract(1)	1						c.e3+1		regulatory factor X4 isoform c																																				SO:0001630	splice_region_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107033171_107033172insT	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.191+1->T	12.37:g.107033172_107033172dupT						RFX4_uc010swv.1_Splice_Site|RFX4_uc001tls.2_Splice_Site_p.W73_splice|RFX4_uc001tlt.2_Splice_Site_p.W73_splice	p.W64_splice	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			3	257	+								A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Splice_Site	INS	ENST00000392842.1	37	c.191_splice	CCDS9106.1																																																																																				0.371	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	Intron
FLT3	2322	broad.mit.edu	37	13	28592630	28592630	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:28592630C>G	ENST00000241453.7	-	20	2596	c.2515G>C	c.(2515-2517)Gat>Cat	p.D839H	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.D839H	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTTGGAATCACTCATGATA	0.453			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0		p.D839?(2)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2515-2517)GAT>CAT		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						189.0	144.0	159.0					13																	28592630		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592630C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2515G>C	13.37:g.28592630C>G	ENSP00000241453:p.Asp839His					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron	p.D839H	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	20	2597	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	839			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2515G>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873980	0.91664	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83992	-1.79;-1.79	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.89701	0.6791	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89731	0.3926	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	839	P36888	FLT3_HUMAN	H	839	ENSP00000241453:D839H;ENSP00000370369:D839H	ENSP00000241453:D839H	D	-	1	0	FLT3	27490630	1.000000	0.71417	0.838000	0.33150	0.924000	0.55760	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
RB1	5925	broad.mit.edu	37	13	48955560	48955563	+	Frame_Shift_Del	DEL	AATC	AATC	-	rs587778639		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:48955560_48955563delAATC	ENST00000267163.4	+	17	1814_1817	c.1676_1679delAATC	c.(1675-1680)gaatccfs	p.ES559fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	559	Domain A.|Pocket; binds T and E1A.				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.?(8)		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)"""	CGAATCATGGAATCCCTTGCATGG	0.328		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		23	Whole gene deletion(15)|Unknown(8)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(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.(1675-1680)GAATCCfs		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.chr13:48955560_48955563delAATC	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.1676_1679delAATC	13.37:g.48955560_48955563delAATC	ENSP00000267163:p.Glu559fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E559fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1842_1845	+		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)	559_560			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1676_1679delAATC	CCDS31973.1																																																																																				0.328	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	IGR	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:75814354C>G								AL162571.1 (31181 upstream) : LINC01078 (10261 downstream)																							CCACCAGTTCCCATGGAAAAC	0.488																																						uc010ths.1																			0					0						c.(121-123)TGG>TGC		Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).																																				SO:0001628	intergenic_variant	647288							g.chr13:75814354C>G																													13.37:g.75814354C>G							p.W41C	NR_027466						1	164	-									Missense_Mutation	SNP		37	c.123G>C																																																																																				0	0.488								
PSMA3	5684	broad.mit.edu	37	14	58737688	58737688	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:58737688T>C	ENST00000216455.4	+	10	785	c.695T>C	c.(694-696)aTa>aCa	p.I232T	RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|PSMA3_ENST00000557508.1_Missense_Mutation_p.I157T|RP11-349A22.5_ENST00000556225.1_RNA|RP11-349A22.5_ENST00000555162.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000556400.1_RNA|PSMA3_ENST00000412908.2_Missense_Mutation_p.I225T|RP11-349A22.5_ENST00000557660.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	232					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCAAAAGATATAAGAGAAGAA	0.368																																						uc001xdj.1																			0					0						c.(694-696)ATA>ACA		proteasome alpha 3 subunit isoform 1							61.0	60.0	61.0					14																	58737688		2203	4300	6503	SO:0001583	missense	5684				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr14:58737688T>C		CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.695T>C	14.37:g.58737688T>C	ENSP00000216455:p.Ile232Thr					C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.I225T|uc001xdl.2_Intron	p.I232T	NM_002788	NP_002779	P25788	PSA3_HUMAN			10	741	+			232					B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	ENST00000216455.4	37	c.695T>C	CCDS9731.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173018	0.57584	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508;ENST00000553677	T;T	0.44482	0.92;0.92	5.13	5.13	0.70059	.	0.324962	0.40554	N	0.001071	T	0.51770	0.1694	M	0.75615	2.305	0.52501	D	0.999958	B;B	0.33477	0.413;0.154	B;B	0.40677	0.337;0.181	T	0.57906	-0.7730	10	0.72032	D	0.01	-5.6807	15.0541	0.71897	0.0:0.0:0.0:1.0	.	225;232	P25788-2;P25788	.;PSA3_HUMAN	T	232;225;157;60	ENSP00000216455:I232T;ENSP00000390491:I225T	ENSP00000216455:I232T	I	+	2	0	PSMA3	57807441	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.520000	0.73773	2.274000	0.75844	0.477000	0.44152	ATA		0.368	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788	
CDCA4	55038	broad.mit.edu	37	14	105477700	105477700	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:105477700G>A	ENST00000336219.3	-	2	722	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CDCA4_ENST00000392590.3_Silent_p.Y189Y	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	189						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGTCCAGGTCGTAGTAGGGGC	0.587																																						uc001yqa.2																			0				ovary(1)	1						c.(565-567)TAC>TAT		cell division cycle associated 4							65.0	61.0	62.0					14																	105477700		2203	4300	6503	SO:0001819	synonymous_variant	55038					nucleus		g.chr14:105477700G>A	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.567C>T	14.37:g.105477700G>A						CDCA4_uc001yqb.2_Silent_p.Y189Y	p.Y189Y	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	663	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	189					Q8TB18|Q9NWK7	Silent	SNP	ENST00000336219.3	37	c.567C>T	CCDS9996.1																																																																																				0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701	
MKRN3	7681	broad.mit.edu	37	15	23812072	23812072	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:23812072G>A	ENST00000314520.3	+	1	1619	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Silent_p.E141E|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	381					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGAGGAGGAGGAAGAGAAGC	0.507																																						uc001ywh.3																			0				lung(6)|large_intestine(2)|ovary(2)	10						c.(1141-1143)GAG>GAA		makorin ring finger protein 3							95.0	95.0	95.0					15																	23812072		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812072G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1143G>A	15.37:g.23812072G>A						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.E381E	p.E381E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1619	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	381						Silent	SNP	ENST00000314520.3	37	c.1143G>A	CCDS10013.1																																																																																				0.507	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
FMN1	342184	broad.mit.edu	37	15	33358855	33358855	+	Intron	SNP	G	G	A	rs372474008		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:33358855G>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Missense_Mutation_p.R411W|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.R411W			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGGGGGCCGGATGAATAGG	0.567																																						uc001zhf.3																			0				ovary(1)	1						c.(1231-1233)CGG>TGG		formin 1		G	TRP/ARG	0,3916		0,0,1958	52.0	53.0	53.0		1231	6.0	1.0	15		53	1,8287		0,1,4143	no	missense	FMN1	NM_001103184.2	101	0,1,6101	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	411/1197	33358855	1,12203	1958	4144	6102	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358855G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1580C>T	15.37:g.33358855G>A						FMN1_uc001zhg.2_Missense_Mutation_p.R411W	p.R411W	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1231	-		all_lung(180;1.14e-07)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	G	15.70	2.912031	0.52439	0.0	1.21E-4	ENSG00000248905	ENST00000334528	T	0.50548	0.74	5.96	5.96	0.96718	.	0.444338	0.26432	N	0.024415	T	0.62962	0.2471	.	.	.	.	.	.	D;P	0.71674	0.998;0.941	P;B	0.57548	0.823;0.288	T	0.71279	-0.4640	8	0.72032	D	0.01	.	14.3487	0.66685	0.0:0.0:0.7393:0.2607	.	411;411	Q68DA7-3;Q68DA7-5	.;.	W	411	ENSP00000333950:R411W	ENSP00000333950:R411W	R	-	1	2	FMN1	31146147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.783000	0.55409	2.832000	0.97577	0.655000	0.94253	CGG		0.567	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
GPR176	11245	broad.mit.edu	37	15	40093624	40093624	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:40093624C>T	ENST00000561100.1	-	3	2122	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Silent_p.A418A|GPR176_ENST00000543580.1_Silent_p.A374A|GPR176_ENST00000560729.1_5'Flank	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGGCAGAGGGCGCAAACTGTG	0.572																																						uc001zkj.1																			0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1255-1257)GCG>GCA		G protein-coupled receptor 176							139.0	136.0	137.0					15																	40093624		2203	4300	6503	SO:0001819	synonymous_variant	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093624C>T	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1257G>A	15.37:g.40093624C>T						GPR176_uc010uck.1_Silent_p.A359A	p.A419A	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	2123	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	419			Cytoplasmic (Potential).		Q6NXF6	Silent	SNP	ENST00000561100.1	37	c.1257G>A	CCDS10051.1																																																																																				0.572	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223	
PLA2G4D	283748	broad.mit.edu	37	15	42364007	42364007	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:42364007C>A	ENST00000290472.3	-	15	1632	c.1538G>T	c.(1537-1539)aGg>aTg	p.R513M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	513	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGATCCTCCTCATCAGCCG	0.617																																						uc001zox.2																			0				large_intestine(1)|skin(1)	2						c.(1537-1539)AGG>ATG		phospholipase A2, group IVD							49.0	54.0	52.0					15																	42364007		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364007C>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1538G>T	15.37:g.42364007C>A	ENSP00000290472:p.Arg513Met						p.R513M	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	15	1633	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	513			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1538G>T	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580825	0.46006	.	.	ENSG00000159337	ENST00000290472	T	0.04360	3.64	4.79	-2.08	0.07254	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.374808	0.23768	N	0.044741	T	0.07728	0.0194	N	0.22421	0.69	0.32478	N	0.541929	D	0.76494	0.999	P	0.62649	0.905	T	0.06373	-1.0830	10	0.87932	D	0	-7.4413	10.5897	0.45302	0.0:0.1955:0.0:0.8045	.	513	Q86XP0	PA24D_HUMAN	M	513	ENSP00000290472:R513M	ENSP00000290472:R513M	R	-	2	0	PLA2G4D	40151299	0.940000	0.31905	0.610000	0.28997	0.190000	0.23558	-0.149000	0.10204	-0.240000	0.09696	0.561000	0.74099	AGG		0.617	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	
C15orf48	84419	broad.mit.edu	37	15	45724277	45724277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:45724277C>T	ENST00000344300.3	+	3	320	c.130C>T	c.(130-132)Cga>Tga	p.R44*	MIR147B_ENST00000390185.1_RNA|C15orf48_ENST00000396650.2_Nonsense_Mutation_p.R44*|RP11-519G16.5_ENST00000559553.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	44						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TAGCCTTGATCGAAAAAAAAA	0.313																																						uc001zvg.2																			0				ovary(1)	1						c.(130-132)CGA>TGA		normal mucosa of esophagus specific 1							120.0	116.0	117.0					15																	45724277		2198	4298	6496	SO:0001587	stop_gained	84419					nucleus		g.chr15:45724277C>T		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"""normal mucosa of esophagus specific 1"""	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.130C>T	15.37:g.45724277C>T	ENSP00000341610:p.Arg44*					C15orf48_uc001zvh.2_Nonsense_Mutation_p.R44*|MIR147B_hsa-mir-147b|MI0005544_5'Flank	p.R44*	NM_197955	NP_922946	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	4	248	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	44						Nonsense_Mutation	SNP	ENST00000344300.3	37	c.130C>T	CCDS10124.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808871	0.90707	.	.	ENSG00000166920	ENST00000396650;ENST00000344300	.	.	.	5.44	3.41	0.39046	.	0.138932	0.47852	D	0.000203	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.2248	5.6834	0.17788	0.2763:0.6227:0.0:0.101	.	.	.	.	X	44	.	ENSP00000341610:R44X	R	+	1	2	C15orf48	43511569	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.022000	0.57203	1.318000	0.45170	0.563000	0.77884	CGA		0.313	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413	
UACA	55075	broad.mit.edu	37	15	70970467	70970467	+	Missense_Mutation	SNP	C	C	T	rs145715387	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:70970467C>T	ENST00000322954.6	-	11	1155	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	UACA_ENST00000379983.2_Missense_Mutation_p.V311I|UACA_ENST00000560441.1_Missense_Mutation_p.V311I|UACA_ENST00000539319.1_Missense_Mutation_p.V215I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	324					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AAACCATTGACTTTATCCAAA	0.284																																						uc002asr.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(970-972)GTC>ATC		uveal autoantigen with coiled-coil domains and							126.0	122.0	123.0					15																	70970467		2198	4295	6493	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70970467C>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.970G>A	15.37:g.70970467C>T	ENSP00000314556:p.Val324Ile					UACA_uc010uke.1_Missense_Mutation_p.V215I|UACA_uc002asq.2_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I	p.V324I	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			11	1074	-			324			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.970G>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352304	0.61293	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.33654	1.4;1.42;1.78	5.32	5.32	0.75619	.	0.104021	0.42420	D	0.000707	T	0.26268	0.0641	L	0.43152	1.355	0.52099	D	0.99994	B;B;B;B	0.33748	0.423;0.298;0.298;0.354	B;B;B;B	0.31946	0.138;0.065;0.065;0.138	T	0.04255	-1.0965	10	0.15499	T	0.54	-17.4934	8.5359	0.33362	0.0:0.8682:0.0:0.1318	.	215;324;324;311	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	I	324;311;311;215	ENSP00000314556:V324I;ENSP00000369319:V311I;ENSP00000438667:V215I	ENSP00000314556:V324I	V	-	1	0	UACA	68757521	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.182000	0.42556	2.662000	0.90505	0.591000	0.81541	GTC		0.284	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
MYH11	4629	broad.mit.edu	37	16	15857677	15857677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:15857677G>A	ENST00000300036.5	-	10	1214	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	MYH11_ENST00000396324.3_Nonsense_Mutation_p.Q376*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.Q376*|MYH11_ENST00000576790.2_Nonsense_Mutation_p.Q369*	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	369	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATGGACGCCTGGTCTGTGTTT	0.507			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(1105-1107)CAG>TAG		smooth muscle myosin heavy chain 11 isoform							209.0	182.0	191.0					16																	15857677		2197	4300	6497	SO:0001587	stop_gained	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15857677G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1105C>T	16.37:g.15857677G>A	ENSP00000300036:p.Gln369*					MYH11_uc002ddv.2_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q369*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q376*|MYH11_uc010bvg.2_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75*	p.Q369*	NM_002474	NP_002465	P35749	MYH11_HUMAN			10	1212	-			369			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	c.1105C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	g	38	6.977385	0.97975	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9753	0.89126	0.0:0.0:1.0:0.0	.	.	.	.	X	369;369;376;376;376	.	ENSP00000300036:Q369X	Q	-	1	0	MYH11	15765178	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.810000	0.99221	2.482000	0.83794	0.556000	0.70494	CAG		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
DNAH3	55567	broad.mit.edu	37	16	21145656	21145656	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:21145656C>T	ENST00000261383.3	-	7	1005	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A336T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	336	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTTCTTGGCGCTCCTGTAG	0.527																																						uc010vbe.1																			0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1006-1008)GCC>ACC		dynein, axonemal, heavy chain 3							108.0	104.0	105.0					16																	21145656		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145656C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1006G>A	16.37:g.21145656C>T	ENSP00000261383:p.Ala336Thr					DNAH3_uc002die.2_Missense_Mutation_p.A307T	p.A336T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	1006	-			336			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1006G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048428	0.55110	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.27557	1.66;1.8	5.85	2.8	0.32819	.	0.723385	0.13471	N	0.385405	T	0.22551	0.0544	L	0.44542	1.39	0.20196	N	0.999925	B;B	0.34313	0.026;0.448	B;B	0.25506	0.006;0.061	T	0.07046	-1.0793	10	0.27785	T	0.31	.	10.7972	0.46468	0.0:0.7925:0.0:0.2075	.	336;307	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	T	336;336;307	ENSP00000261383:A336T;ENSP00000394245:A336T	ENSP00000261383:A336T	A	-	1	0	DNAH3	21053157	0.010000	0.17322	0.177000	0.23020	0.988000	0.76386	0.347000	0.20014	0.371000	0.24564	0.655000	0.94253	GCC		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ITGAD	3681	broad.mit.edu	37	16	31426282	31426282	+	Silent	SNP	C	C	T	rs144306080		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:31426282C>T	ENST00000389202.2	+	18	2302	c.2253C>T	c.(2251-2253)gcC>gcT	p.A751A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	751					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGCTGGCCGTGGGCTCAC	0.537													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19491	0.0		0.0	False		,,,				2504	0.0					uc002ebv.1																			0				skin(1)	1						c.(2251-2253)GCC>GCT		integrin, alpha D precursor		C		7,4387	11.4+/-27.6	0,7,2190	113.0	102.0	105.0		2253	-9.1	0.0	16	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	ITGAD	NM_005353.2		0,7,6490	TT,TC,CC		0.0,0.1593,0.0539		751/1162	31426282	7,12987	2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31426282C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2253C>T	16.37:g.31426282C>T						ITGAD_uc010cap.1_Silent_p.A752A	p.A751A	NM_005353	NP_005344	Q13349	ITAD_HUMAN			18	2302	+			751			Extracellular (Potential).		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2253C>T	CCDS32438.1																																																																																				0.537	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
CYLD	1540	broad.mit.edu	37	16	50815179	50815179	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:50815179C>T	ENST00000427738.3	+	9	1746	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	CYLD_ENST00000540145.1_Missense_Mutation_p.T514M|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.T511M|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.T511M|CYLD_ENST00000398568.2_Missense_Mutation_p.T511M|CYLD_ENST00000311559.9_Missense_Mutation_p.T514M|CYLD_ENST00000564326.1_Missense_Mutation_p.T511M|RP11-327F22.4_ENST00000564510.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	514	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T514fs*29(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GCAGGCTGTACGGATGGAACC	0.453			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Insertion - Frameshift(1)	p.T514fs*29(1)	skin(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1540-1542)ACG>ATG		ubiquitin carboxyl-terminal hydrolase CYLD							107.0	104.0	105.0					16																	50815179		1946	4157	6103	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50815179C>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1541C>T	16.37:g.50815179C>T	ENSP00000392025:p.Thr514Met					CYLD_uc002ego.2_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M	p.T514M	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			10	1956	+		all_cancers(37;0.0156)	514			CAP-Gly 3.|Interaction with TRIP.|Interaction with IKBKG/NEMO.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1541C>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914515	0.72983	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.75367	-0.93;-0.93;-0.93	6.17	6.17	0.99709	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.85919	0.1445	10	0.87932	D	0	-19.502	20.8794	0.99867	0.0:1.0:0.0:0.0	.	511;514;511;514	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	M	514;514;511;511	ENSP00000445447:T514M;ENSP00000308928:T514M;ENSP00000381574:T511M	ENSP00000308928:T514M	T	+	2	0	CYLD	49372680	1.000000	0.71417	0.865000	0.33974	0.241000	0.25554	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	ACG		0.453	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
DNAAF1	123872	broad.mit.edu	37	16	84203580	84203580	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:84203580C>A	ENST00000378553.5	+	8	1270	c.1146C>A	c.(1144-1146)agC>agA	p.S382R	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.S382R	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	382					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTAAGGAAAGCTTTGAGGCCA	0.577																																						uc002fhl.3																			0					0						c.(1144-1146)AGC>AGA		leucine rich repeat containing 50							78.0	82.0	80.0					16																	84203580		2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203580C>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1146C>A	16.37:g.84203580C>A	ENSP00000367815:p.Ser382Arg					LRRC50_uc010vnw.1_Missense_Mutation_p.S146R	p.S382R	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			8	1327	+			382					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1146C>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235285	0.58886	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.37058	1.22;1.74	5.18	2.0	0.26442	.	0.578384	0.16419	N	0.215222	T	0.45836	0.1362	M	0.70595	2.14	0.31867	N	0.620214	D;D	0.63880	0.993;0.988	P;P	0.58210	0.835;0.804	T	0.50448	-0.8827	10	0.23891	T	0.37	-19.1111	6.0347	0.19699	0.0:0.6787:0.0:0.3213	.	146;382	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	R	382	ENSP00000334593:S382R;ENSP00000367815:S382R	ENSP00000334593:S382R	S	+	3	2	DNAAF1	82761081	1.000000	0.71417	0.986000	0.45419	0.689000	0.40095	1.050000	0.30404	0.764000	0.33197	0.643000	0.83706	AGC		0.577	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
NLRP1	22861	broad.mit.edu	37	17	5463322	5463322	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:5463322G>A	ENST00000572272.1	-	4	693	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	NLRP1_ENST00000269280.4_Missense_Mutation_p.P232S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P232S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P232S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P232S|NLRP1_ENST00000345221.3_Missense_Mutation_p.P232S|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	232					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCCATGGGGGCCTGCCTTTC	0.507																																						uc002gci.2																			0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(694-696)CCC>TCC		NLR family, pyrin domain containing 1 isoform 1							30.0	35.0	33.0					17																	5463322		2197	4295	6492	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463322G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.694C>T	17.37:g.5463322G>A	ENSP00000460475:p.Pro232Ser					NLRP1_uc002gcg.1_Missense_Mutation_p.P232S|NLRP1_uc002gck.2_Missense_Mutation_p.P232S|NLRP1_uc002gcj.2_Missense_Mutation_p.P232S|NLRP1_uc002gcl.2_Missense_Mutation_p.P232S|NLRP1_uc002gch.3_Missense_Mutation_p.P232S|NLRP1_uc010clh.2_Missense_Mutation_p.P232S	p.P232S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	1249	-		Colorectal(1115;3.48e-05)	232					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.694C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	1.663	-0.510917	0.04231	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.72051	-0.62;-0.62;-0.58;-0.57;-0.58	1.5	-3.0	0.05480	.	.	.	.	.	T	0.40645	0.1125	N	0.19112	0.55	0.09310	N	1	B;P;B;B;B	0.38110	0.072;0.618;0.02;0.034;0.006	B;B;B;B;B	0.25884	0.008;0.064;0.006;0.013;0.004	T	0.27191	-1.0081	9	0.22109	T	0.4	.	2.9829	0.05958	0.191:0.0:0.3096:0.4994	.	232;232;232;232;232	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	S	232	ENSP00000442029:P232S;ENSP00000262467:P232S;ENSP00000269280:P232S;ENSP00000346390:P232S;ENSP00000324366:P232S	ENSP00000262467:P232S	P	-	1	0	NLRP1	5404046	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.373000	0.07494	-1.106000	0.03008	0.196000	0.17591	CCC		0.507	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH8	4626	broad.mit.edu	37	17	10297588	10297588	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:10297588C>T	ENST00000403437.2	-	35	5238	c.5144G>A	c.(5143-5145)cGt>cAt	p.R1715H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1715					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGCTGGACACGCTCACTGGC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				skin(6)|ovary(3)|breast(2)	11						c.(5143-5145)CGT>CAT		myosin, heavy chain 8, skeletal muscle,							117.0	103.0	108.0					17																	10297588		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10297588C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5144G>A	17.37:g.10297588C>T	ENSP00000384330:p.Arg1715His					uc002gml.1_Intron	p.R1715H	NM_002472	NP_002463	P13535	MYH8_HUMAN			35	5239	-			1715			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5144G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091071	0.94149	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80824	-1.42	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.38217	U	0.001776	D	0.91958	0.7453	M	0.90870	3.155	0.54753	D	0.999983	D	0.89917	1.0	D	0.77557	0.99	D	0.93515	0.6856	10	0.87932	D	0	.	18.6157	0.91302	0.0:1.0:0.0:0.0	.	1715	P13535	MYH8_HUMAN	H	1715	ENSP00000384330:R1715H	ENSP00000252173:R1715H	R	-	2	0	MYH8	10238313	0.996000	0.38824	0.995000	0.50966	0.837000	0.47467	7.609000	0.82925	2.632000	0.89209	0.650000	0.86243	CGT		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
CCL13	6357	broad.mit.edu	37	17	32685057	32685057	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:32685057A>C	ENST00000225844.2	+	3	279	c.204A>C	c.(202-204)aaA>aaC	p.K68N		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	68					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				TCAGAACCAAACTGGGCAAGG	0.512																																						uc002hic.2																			0					0						c.(202-204)AAA>AAC		small inducible cytokine A13 precursor							63.0	62.0	62.0					17																	32685057		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685057A>C	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.204A>C	17.37:g.32685057A>C	ENSP00000225844:p.Lys68Asn						p.K68N	NM_005408	NP_005399	Q99616	CCL13_HUMAN			3	279	+		Ovarian(249;0.0443)|Breast(31;0.151)	68					O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.204A>C	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925950	0.34002	.	.	ENSG00000181374	ENST00000225844	T	0.09723	2.95	4.53	-0.439	0.12264	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	.	.	.	.	T	0.23532	0.0569	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.74674	0.984	T	0.09773	-1.0659	8	0.72032	D	0.01	.	4.1254	0.10125	0.3933:0.3916:0.215:0.0	.	68	Q99616	CCL13_HUMAN	N	68	ENSP00000225844:K68N	ENSP00000225844:K68N	K	+	3	2	CCL13	29709170	0.000000	0.05858	0.001000	0.08648	0.770000	0.43624	0.003000	0.13083	-0.144000	0.11314	0.459000	0.35465	AAA		0.512	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408	
KRT25	147183	broad.mit.edu	37	17	38911514	38911514	+	Nonsense_Mutation	SNP	G	G	A	rs528755553		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:38911514G>A	ENST00000312150.4	-	1	70	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGAAAGTCGAAGAGACATG	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21986	0.0		0.0	False		,,,				2504	0.0					uc002hve.2																			0				ovary(2)	2						c.(10-12)CGA>TGA		keratin 25							34.0	34.0	34.0					17																	38911514		2201	4292	6493	SO:0001587	stop_gained	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38911514G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.10C>T	17.37:g.38911514G>A	ENSP00000310573:p.Arg4*						p.R4*	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			1	71	-		Breast(137;0.00526)	4			Head.			Nonsense_Mutation	SNP	ENST00000312150.4	37	c.10C>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226555	0.79576	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	.	.	.	5.76	4.6	0.57074	.	0.117651	0.39083	N	0.001478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.537	0.27717	0.0941:0.0:0.7372:0.1687	.	.	.	.	X	4	.	ENSP00000310573:R4X	R	-	1	2	KRT25	36165040	0.719000	0.27986	0.948000	0.38648	0.567000	0.35839	1.651000	0.37302	2.727000	0.93392	0.655000	0.94253	CGA		0.488	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534	
DHX8	1659	broad.mit.edu	37	17	41601142	41601142	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:41601142G>A	ENST00000262415.3	+	23	3662	c.3590G>A	c.(3589-3591)cGt>cAt	p.R1197H	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1197					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAGCAACAGCGTCTTGAACCC	0.517																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			0				ovary(2)|kidney(1)|pancreas(1)	4						c.(3589-3591)CGT>CAT		DEAH (Asp-Glu-Ala-His) box polypeptide 8							136.0	118.0	124.0					17																	41601142		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41601142G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3590G>A	17.37:g.41601142G>A	ENSP00000262415:p.Arg1197His					DHX8_uc010wig.1_Intron	p.R1197H	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	23	3663	+		Breast(137;0.00908)	1197						Missense_Mutation	SNP	ENST00000262415.3	37	c.3590G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361357	0.95877	.	.	ENSG00000067596	ENST00000262415	T	0.03607	3.87	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.81802	2.56	0.58432	D	0.999999	D	0.71674	0.998	P	0.61275	0.886	T	0.00005	-1.2544	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1197	Q14562	DHX8_HUMAN	H	1197	ENSP00000262415:R1197H	ENSP00000262415:R1197H	R	+	2	0	DHX8	38956668	1.000000	0.71417	0.972000	0.41901	0.895000	0.52256	7.895000	0.87343	2.941000	0.99782	0.655000	0.94253	CGT		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
TBX21	30009	broad.mit.edu	37	17	45822386	45822386	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:45822386G>A	ENST00000177694.1	+	6	1473	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	421					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCTACTACCGAGGCCAGGAG	0.662																																						uc002ilv.1																			0					0						c.(1261-1263)CGA>CAA		T-box 21							34.0	34.0	34.0					17																	45822386		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822386G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1262G>A	17.37:g.45822386G>A	ENSP00000177694:p.Arg421Gln						p.R421Q	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1473	+			421						Missense_Mutation	SNP	ENST00000177694.1	37	c.1262G>A	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242061	0.39598	.	.	ENSG00000073861	ENST00000177694	D	0.84730	-1.89	5.2	3.09	0.35607	.	0.532161	0.17331	N	0.178139	T	0.71937	0.3399	L	0.36672	1.1	0.29172	N	0.877062	B	0.23058	0.079	B	0.08055	0.003	T	0.56426	-0.7981	10	0.11182	T	0.66	.	5.8821	0.18862	0.1059:0.2132:0.6809:0.0	.	421	Q9UL17	TBX21_HUMAN	Q	421	ENSP00000177694:R421Q	ENSP00000177694:R421Q	R	+	2	0	TBX21	43177385	0.235000	0.23794	0.990000	0.47175	0.997000	0.91878	0.759000	0.26461	2.404000	0.81709	0.655000	0.94253	CGA		0.662	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351	
MC2R	4158	broad.mit.edu	37	18	13885081	13885081	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:13885081C>T	ENST00000327606.3	-	2	617	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	146			R -> H (in GCCD1).		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R146H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CACCACAGTGCGGCGCATGGT	0.577																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			1	Substitution - Missense(1)		stomach(1)	ovary(4)|skin(1)	5	GRCh37	CM950793	MC2R	M		c.(436-438)CGC>CAC		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						118.0	96.0	104.0					18																	13885081		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885081C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.437G>A	18.37:g.13885081C>T	ENSP00000333821:p.Arg146His						p.R146H	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	614	-			146		R -> H (in GCCD1).	Cytoplasmic (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.437G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656917	0.88154	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.39592	1.07	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.91196	3.185	0.58432	D	0.999996	D	0.89917	1.0	D	0.72075	0.976	T	0.80049	-0.1545	10	0.87932	D	0	.	18.919	0.92518	0.0:1.0:0.0:0.0	.	146	Q01718	ACTHR_HUMAN	H	146	ENSP00000333821:R146H	ENSP00000333821:R146H	R	-	2	0	MC2R	13875081	1.000000	0.71417	0.943000	0.38184	0.582000	0.36321	5.487000	0.66863	2.469000	0.83416	0.655000	0.94253	CGC		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
ATP5A1	498	broad.mit.edu	37	18	43668121	43668121	+	Silent	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:43668121T>C	ENST00000398752.6	-	6	874	c.753A>G	c.(751-753)caA>caG	p.Q251Q	ATP5A1_ENST00000590665.1_Silent_p.Q229Q|ATP5A1_ENST00000282050.2_Silent_p.Q251Q|ATP5A1_ENST00000593152.2_Silent_p.Q201Q	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	251					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TGGATCTCTTTTGACCAATAG	0.368																																						uc002lbr.1																			0					0						c.(751-753)CAA>CAG		ATP synthase, H+ transporting, mitochondrial F1							121.0	115.0	117.0					18																	43668121		2203	4299	6502	SO:0001819	synonymous_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43668121T>C	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.753A>G	18.37:g.43668121T>C						ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q	p.Q251Q	NM_004046	NP_004037	P25705	ATPA_HUMAN			6	843	-			251					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Silent	SNP	ENST00000398752.6	37	c.753A>G	CCDS11927.1																																																																																				0.368	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
INSR	3643	broad.mit.edu	37	19	7117197	7117197	+	Missense_Mutation	SNP	G	G	A	rs200400127		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:7117197G>A	ENST00000302850.5	-	22	4161	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	INSR_ENST00000341500.5_Missense_Mutation_p.A1328V	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1340					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.A1340V(3)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCGGCCCCCCGCCTCCTCCCT	0.592																																						uc002mgd.1																			3	Substitution - Missense(3)		endometrium(2)|prostate(1)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(4018-4020)GCG>GTG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	75.0	68.0	70.0		4019,3983	0.2	0.7	19		70	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	INSR	NM_000208.2,NM_001079817.1	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1340/1383,1328/1371	7117197	1,13005	2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117197G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.4019C>T	19.37:g.7117197G>A	ENSP00000303830:p.Ala1340Val					INSR_uc002mge.1_Missense_Mutation_p.A1328V	p.A1340V	NM_000208	NP_000199	P06213	INSR_HUMAN			22	4128	-			1340			Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.4019C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517349	0.44763	0.0	1.16E-4	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.75260	-0.92;-0.92	4.97	0.174	0.15040	.	0.164767	0.27951	U	0.017195	T	0.53302	0.1788	N	0.25647	0.755	0.24389	N	0.99475	B;B	0.17268	0.017;0.021	B;B	0.12156	0.007;0.003	T	0.38887	-0.9640	10	0.46703	T	0.11	.	2.9878	0.05973	0.3183:0.0:0.4648:0.2168	.	1328;1340	P06213-2;P06213	.;INSR_HUMAN	V	1340;1328	ENSP00000303830:A1340V;ENSP00000342838:A1328V	ENSP00000303830:A1340V	A	-	2	0	INSR	7068197	0.252000	0.23972	0.676000	0.29932	0.985000	0.73830	0.464000	0.21988	0.246000	0.21394	0.551000	0.68910	GCG		0.592	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
FBN3	84467	broad.mit.edu	37	19	8160957	8160957	+	Silent	SNP	G	G	A	rs201513367	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:8160957G>A	ENST00000600128.1	-	45	5961	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D	FBN3_ENST00000601739.1_Silent_p.D1849D|FBN3_ENST00000270509.2_Silent_p.D1849D			Q75N90	FBN3_HUMAN	fibrillin 3	1849	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACACTCGTCAATGTCTG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18954	0.0		0.001	False		,,,				2504	0.001					uc002mjf.2																			0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(5545-5547)GAC>GAT		fibrillin 3 precursor							107.0	85.0	93.0					19																	8160957		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8160957G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5547C>T	19.37:g.8160957G>A							p.D1849D	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			44	5568	-			1849			EGF-like 29; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.5547C>T	CCDS12196.1																																																																																				0.582	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:14910414delA	ENST00000248073.2	-	1	609	c.535delT	c.(535-537)tgtfs	p.C179fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	179					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTAGATCACAAAAAAAGTGT	0.478																																						uc010xnz.1																			1	Deletion - Frameshift(1)		large_intestine(1)	ovary(2)	2						c.(535-537)TGTfs		olfactory receptor, family 7, subfamily C,							107.0	108.0	108.0					19																	14910414		2203	4300	6503	SO:0001589	frameshift_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910414delA	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.535delT	19.37:g.14910414delA	ENSP00000248073:p.Cys179fs						p.C179fs	NM_198944	NP_945182	O76099	OR7C1_HUMAN			1	535	-			179			Extracellular (Potential).		Q15621|Q6IFP2|Q96R94	Frame_Shift_Del	DEL	ENST00000248073.2	37	c.535delT	CCDS12317.1																																																																																				0.478	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1		
UPF1	5976	broad.mit.edu	37	19	18976409	18976409	+	Missense_Mutation	SNP	G	G	A	rs139317612		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:18976409G>A	ENST00000599848.1	+	22	3301	c.3092G>A	c.(3091-3093)cGc>cAc	p.R1031H	UPF1_ENST00000262803.5_Missense_Mutation_p.R1020H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1031					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGTGGGGGACGCCAGAAGAAC	0.642																																						uc002nkg.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3091-3093)CGC>CAC		regulator of nonsense transcripts 1							72.0	78.0	76.0					19																	18976409		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976409G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3092G>A	19.37:g.18976409G>A	ENSP00000470142:p.Arg1031His					UPF1_uc002nkf.2_Missense_Mutation_p.R1020H|UPF1_uc002nkh.2_Missense_Mutation_p.R275H	p.R1031H	NM_002911	NP_002902	Q92900	RENT1_HUMAN			22	3367	+			1031					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3092G>A		.	.	.	.	.	.	.	.	.	.	g	17.65	3.441681	0.63067	.	.	ENSG00000005007	ENST00000262803	D	0.89552	-2.53	4.78	3.67	0.42095	.	0.241301	0.42821	D	0.000657	T	0.81814	0.4902	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.77536	-0.2551	10	0.33141	T	0.24	-35.1927	13.1469	0.59467	0.0:0.1619:0.8381:0.0	.	1031;1020	Q92900;Q92900-2	RENT1_HUMAN;.	H	1020	ENSP00000262803:R1020H	ENSP00000262803:R1020H	R	+	2	0	UPF1	18837409	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.492000	0.81482	2.213000	0.71641	0.479000	0.44913	CGC		0.642	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
PLEKHG2	64857	broad.mit.edu	37	19	39908257	39908257	+	Silent	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:39908257T>C	ENST00000409794.3	+	8	1657	c.807T>C	c.(805-807)gcT>gcC	p.A269A	PLEKHG2_ENST00000378550.1_Silent_p.A269A|PLEKHG2_ENST00000458508.2_Silent_p.A210A|PLEKHG2_ENST00000409797.2_Silent_p.A269A|PLEKHG2_ENST00000425673.1_Silent_p.A269A	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	269	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGAGGAAGCTATTGTGTCCA	0.647																																						uc010xuz.1																			0				skin(2)|pancreas(1)|breast(1)	4						c.(805-807)GCT>GCC		common-site lymphoma/leukemia guanine nucleotide							70.0	61.0	64.0					19																	39908257		2203	4300	6503	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908257T>C	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.807T>C	19.37:g.39908257T>C						PLEKHG2_uc010xuy.1_Silent_p.A210A|PLEKHG2_uc002olj.2_Silent_p.A269A|PLEKHG2_uc010xva.1_Silent_p.A76A	p.A269A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		8	1132	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		269			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.807T>C	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893296	0.33442	.	.	ENSG00000090924	ENST00000205135	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	.	3.7012	0.08383	0.0819:0.5486:0.2455:0.1241	.	.	.	.	P	166	.	.	L	+	2	0	PLEKHG2	44600097	0.072000	0.21174	0.372000	0.25991	0.991000	0.79684	-0.665000	0.05286	-2.485000	0.00520	0.459000	0.35465	CTA		0.647	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
XRCC1	7515	broad.mit.edu	37	19	44057610	44057610	+	Missense_Mutation	SNP	C	C	T	rs190563109		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:44057610C>T	ENST00000262887.5	-	6	1091	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.A151T			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	182					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGAGAGTTGGCGCTCTCATCC	0.577								Other BER factors					C|||	1	0.000199681	0.0	0.0	5008	,	,		18427	0.001		0.0	False		,,,				2504	0.0					uc002owt.2																			0				ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(544-546)GCC>ACC	Other_BER_factors	X-ray repair cross complementing protein 1							89.0	83.0	85.0					19																	44057610		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44057610C>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.544G>A	19.37:g.44057610C>T	ENSP00000262887:p.Ala182Thr					XRCC1_uc010xwp.1_Missense_Mutation_p.A151T	p.A182T	NM_006297	NP_006288	P18887	XRCC1_HUMAN			6	664	-		Prostate(69;0.0153)	182					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.544G>A	CCDS12624.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.669	0.307982	0.10733	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.02552	4.25;4.25	4.73	0.0736	0.14391	.	0.399851	0.26297	N	0.025185	T	0.02047	0.0064	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.08055	0.003;0.001	T	0.43766	-0.9371	10	0.32370	T	0.25	-3.5733	1.6883	0.02846	0.1437:0.4675:0.1399:0.2489	.	151;182	F5H8D7;P18887	.;XRCC1_HUMAN	T	196;182;151;182	ENSP00000262887:A182T;ENSP00000443671:A151T	ENSP00000262887:A182T	A	-	1	0	XRCC1	48749450	0.001000	0.12720	0.006000	0.13384	0.016000	0.09150	-0.255000	0.08769	0.037000	0.15575	-0.734000	0.03567	GCC		0.577	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297	
NLRP2	55655	broad.mit.edu	37	19	55501996	55501996	+	Silent	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:55501996G>C	ENST00000543010.1	+	10	2807	c.2664G>C	c.(2662-2664)ctG>ctC	p.L888L	NLRP2_ENST00000391721.4_Silent_p.L864L|NLRP2_ENST00000448584.2_Silent_p.L888L|NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000538819.1_Silent_p.L864L|NLRP2_ENST00000263437.6_Silent_p.L885L|NLRP2_ENST00000537859.1_Silent_p.L866L|NLRP2_ENST00000339757.7_Silent_p.L866L|NLRP2_ENST00000427260.2_Silent_p.L865L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	888					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGAAGTTTCTGTGTGAGGGCT	0.567																																						uc002qij.2																			0				ovary(1)|skin(1)	2						c.(2662-2664)CTG>CTC		NLR family, pyrin domain containing 2							136.0	136.0	136.0					19																	55501996		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501996G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2664G>C	19.37:g.55501996G>C						NLRP2_uc010yfp.1_Silent_p.L865L|NLRP2_uc010esn.2_Silent_p.L864L|NLRP2_uc010eso.2_Silent_p.L885L|NLRP2_uc010esp.2_Silent_p.L866L	p.L888L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	10	2750	+			888			LRR 3.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2664G>C	CCDS12913.1																																																																																				0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP5	126206	broad.mit.edu	37	19	56539073	56539073	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:56539073G>A	ENST00000390649.3	+	7	1474	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	492	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGAGCGTCGCCCCCTTCAA	0.637																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1474-1476)GCC>ACC		NACHT, LRR and PYD containing protein 5							30.0	34.0	32.0					19																	56539073		2130	4236	6366	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539073G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1474G>A	19.37:g.56539073G>A	ENSP00000375063:p.Ala492Thr					NLRP5_uc002qmi.2_Missense_Mutation_p.A473T	p.A492T	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1474	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	492			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1474G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.516949	0.00975	.	.	ENSG00000171487	ENST00000390649	T	0.72835	-0.69	2.53	-5.05	0.02955	.	0.939026	0.08727	N	0.902612	T	0.32102	0.0818	N	0.04636	-0.2	0.09310	N	1	B	0.26744	0.158	B	0.15484	0.013	T	0.33574	-0.9863	10	0.07175	T	0.84	.	0.1945	0.00138	0.3704:0.1887:0.1894:0.2516	.	492	P59047	NALP5_HUMAN	T	492	ENSP00000375063:A492T	ENSP00000375063:A492T	A	+	1	0	NLRP5	61230885	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.765000	0.04730	-1.457000	0.01919	-1.036000	0.02392	GCC		0.637	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
DYSF	8291	broad.mit.edu	37	2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T	rs200990851		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:71909724C>T	ENST00000258104.3	+	54	6398	c.6121C>T	c.(6121-6123)Cgg>Tgg	p.R2041W	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Missense_Mutation_p.R2058W|DYSF_ENST00000410020.3_Missense_Mutation_p.R2080W|DYSF_ENST00000413539.2_Missense_Mutation_p.R2072W|DYSF_ENST00000409366.1_Missense_Mutation_p.R2063W|DYSF_ENST00000409582.3_Missense_Mutation_p.R2079W|DYSF_ENST00000409744.1_Missense_Mutation_p.R2049W|DYSF_ENST00000394120.2_Missense_Mutation_p.R2042W|DYSF_ENST00000409651.1_Missense_Mutation_p.R2073W|DYSF_ENST00000429174.2_Missense_Mutation_p.R2062W|DYSF_ENST00000410041.1_Missense_Mutation_p.R2059W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2041					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCTGTGGCGGCGTTTCCG	0.582																																						uc002sie.2																			0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(6121-6123)CGG>TGG		dysferlin isoform 8							173.0	125.0	141.0					2																	71909724		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909724C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6121C>T	2.37:g.71909724C>T	ENSP00000258104:p.Arg2041Trp					DYSF_uc010feg.2_Missense_Mutation_p.R2072W|DYSF_uc010feh.2_Missense_Mutation_p.R2048W|DYSF_uc002sig.3_Missense_Mutation_p.R2027W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R2062W|DYSF_uc010fef.2_Missense_Mutation_p.R2079W|DYSF_uc010fei.2_Missense_Mutation_p.R2058W|DYSF_uc010fek.2_Missense_Mutation_p.R2059W|DYSF_uc010fej.2_Missense_Mutation_p.R2049W|DYSF_uc010fel.2_Missense_Mutation_p.R2028W|DYSF_uc010feo.2_Missense_Mutation_p.R2073W|DYSF_uc010fem.2_Missense_Mutation_p.R2063W|DYSF_uc010fen.2_Missense_Mutation_p.R2080W|DYSF_uc002sif.2_Missense_Mutation_p.R2042W|DYSF_uc010yqy.1_Missense_Mutation_p.R922W|DYSF_uc010yqz.1_Missense_Mutation_p.R802W	p.R2041W	NM_003494	NP_003485	O75923	DYSF_HUMAN			54	6497	+			2041			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6121C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059284	0.76074	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.1	3.13	0.36017	.	0.050411	0.85682	D	0.000000	D	0.91908	0.7438	M	0.84773	2.715	0.53005	D	0.999969	D;D;D;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;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.985;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.995;1.0;0.975;0.982;1.0;1.0;0.999	D	0.92459	0.5976	10	0.87932	D	0	-25.7551	11.4408	0.50096	0.4266:0.5734:0.0:0.0	.	805;2073;2080;2063;2028;2059;2049;2058;2048;2072;2079;2062;2027;2042;2041	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	2072;2058;2079;2062;2041;2073;2042;2049;2063;2080;2059	ENSP00000407046:R2072W;ENSP00000387137:R2058W;ENSP00000386547:R2079W;ENSP00000398305:R2062W;ENSP00000258104:R2041W;ENSP00000386683:R2073W;ENSP00000377678:R2042W;ENSP00000386285:R2049W;ENSP00000386512:R2063W;ENSP00000386881:R2080W;ENSP00000386617:R2059W	ENSP00000258104:R2041W	R	+	1	2	DYSF	71763232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.570000	0.36439	1.220000	0.43490	0.655000	0.94253	CGG		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
ASTL	431705	broad.mit.edu	37	2	96798441	96798441	+	Missense_Mutation	SNP	G	G	A	rs145986421		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:96798441G>A	ENST00000342380.2	-	6	474	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCCACTGCGCCCCACACTC	0.627																																						uc010yui.1																			0					0						c.(475-477)CGC>TGC		astacin-like metalloendopeptidase precursor		G	CYS/ARG	0,4406		0,0,2203	59.0	60.0	60.0		475	3.9	0.8	2	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	missense	ASTL	NM_001002036.3	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	159/432	96798441	2,13004	2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96798441G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.475C>T	2.37:g.96798441G>A	ENSP00000343674:p.Arg159Cys						p.R159C	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			6	475	-			159						Missense_Mutation	SNP	ENST00000342380.2	37	c.475C>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172317	0.57584	0.0	2.33E-4	ENSG00000188886	ENST00000342380	T	0.67345	-0.26	4.79	3.91	0.45181	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.47093	D	0.000244	T	0.70710	0.3255	M	0.90759	3.145	0.36713	D	0.880743	P	0.52316	0.952	B	0.41510	0.359	T	0.79981	-0.1574	10	0.66056	D	0.02	-14.8332	10.6411	0.45594	0.095:0.0:0.905:0.0	.	159	Q6HA08	ASTL_HUMAN	C	159	ENSP00000343674:R159C	ENSP00000343674:R159C	R	-	1	0	ASTL	96162168	0.559000	0.26562	0.786000	0.31890	0.756000	0.42949	2.321000	0.43805	1.016000	0.39470	0.551000	0.68910	CGC		0.627	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
NEB	4703	broad.mit.edu	37	2	152470900	152470900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:152470900G>A	ENST00000172853.10	-	73	10909	c.10762C>T	c.(10762-10764)Cag>Tag	p.Q3588*	NEB_ENST00000427231.2_Nonsense_Mutation_p.Q3831*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q3831*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q3831*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q3588*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q3831*			P20929	NEBU_HUMAN	nebulin	3588					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAAGGATCTGACACTTCTTG	0.527																																						uc010fnx.2																			0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10762-10764)CAG>TAG		nebulin isoform 3							234.0	229.0	231.0					2																	152470900		2059	4214	6273	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152470900G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10762C>T	2.37:g.152470900G>A	ENSP00000172853:p.Gln3588*						p.Q3588*	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	10953	-			3588			Nebulin 98.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.10762C>T		.	.	.	.	.	.	.	.	.	.	G	53	20.527224	0.99931	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6058	0.95582	0.0:0.0:1.0:0.0	.	.	.	.	X	3588;3831;3831;3588	.	ENSP00000172853:Q3588X	Q	-	1	0	NEB	152179146	1.000000	0.71417	0.992000	0.48379	0.823000	0.46562	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	CAG		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
ZNF804A	91752	broad.mit.edu	37	2	185801478	185801478	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:185801478C>G	ENST00000302277.6	+	4	1949	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	452							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACGAAACCATCAATTTCCTAT	0.333																																						uc002uph.2																			0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1354-1356)TCA>TGA		zinc finger protein 804A							95.0	96.0	96.0					2																	185801478		2203	4300	6503	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185801478C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1355C>G	2.37:g.185801478C>G	ENSP00000303252:p.Ser452*						p.S452*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1949	+			452					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.1355C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	43	10.041875	0.99324	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.6	5.6	0.85130	.	0.277746	0.25897	N	0.027590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.1723	18.5921	0.91217	0.0:1.0:0.0:0.0	.	.	.	.	X	452	.	ENSP00000303252:S452X	S	+	2	0	ZNF804A	185509723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.642000	0.89623	0.591000	0.81541	TCA		0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
COL3A1	1281	broad.mit.edu	37	2	189851838	189851838	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189851838A>G	ENST00000304636.3	+	5	671	c.501A>G	c.(499-501)ggA>ggG	p.G167G	COL3A1_ENST00000317840.5_Silent_p.G167G	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	167	Nonhelical region (N-terminal).				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGCAGTAGGAGGACTCGCAG	0.403																																						uc002uqj.1																			0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(499-501)GGA>GGG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						143.0	140.0	141.0					2																	189851838		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189851838A>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.501A>G	2.37:g.189851838A>G							p.G167G	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		5	618	+			167			Nonhelical region (N-terminal).		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.501A>G	CCDS2297.1																																																																																				0.403	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
COL3A1	1281	broad.mit.edu	37	2	189864035	189864035	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189864035C>A	ENST00000304636.3	+	30	2217	c.2047C>A	c.(2047-2049)Cgt>Agt	p.R683S	COL3A1_ENST00000317840.5_Missense_Mutation_p.R683S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	683	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGGTGAACGTGGACCTCC	0.493																																						uc002uqj.1																			0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2047-2049)CGT>AGT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						35.0	36.0	36.0					2																	189864035		2202	4300	6502	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189864035C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2047C>A	2.37:g.189864035C>A	ENSP00000304408:p.Arg683Ser						p.R683S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		30	2164	+			683			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2047C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854488	0.51376	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93763	-3.16;-3.28	4.96	4.96	0.65561	.	0.000000	0.43919	D	0.000519	D	0.94588	0.8256	L	0.48260	1.515	0.51767	D	0.999934	D	0.76494	0.999	D	0.85130	0.997	D	0.92715	0.6186	10	0.26408	T	0.33	.	13.5649	0.61813	0.1554:0.8445:0.0:0.0	.	683	P02461	CO3A1_HUMAN	S	683	ENSP00000304408:R683S;ENSP00000315243:R683S	ENSP00000304408:R683S	R	+	1	0	COL3A1	189572280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.304000	0.33482	2.472000	0.83506	0.650000	0.86243	CGT		0.493	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
ANKAR	150709	broad.mit.edu	37	2	190571779	190571779	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:190571779A>C	ENST00000520309.1	+	9	2114	c.2026A>C	c.(2026-2028)Atc>Ctc	p.I676L	ANKAR_ENST00000431575.2_Missense_Mutation_p.I605L|ANKAR_ENST00000281412.6_Missense_Mutation_p.I440L|ANKAR_ENST00000438402.2_Missense_Mutation_p.I676L|ANKAR_ENST00000313581.4_Missense_Mutation_p.I676L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	676						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAATAATATAATCCATTTATC	0.343																																						uc002uqw.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1813-1815)ATC>CTC		ankyrin and armadillo repeat containing							46.0	48.0	47.0					2																	190571779		2202	4300	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190571779A>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2026A>C	2.37:g.190571779A>C	ENSP00000427882:p.Ile676Leu					ANKAR_uc002uqu.2_RNA	p.I605L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1813	+			676			ANK 5.		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1813A>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765518	0.49574	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	4.98	3.83	0.44106	.	0.000000	0.45361	D	0.000377	T	0.04634	0.0126	N	0.04355	-0.22	0.29517	N	0.853765	.	.	.	.	.	.	T	0.35475	-0.9787	8	0.02654	T	1	-12.3624	9.7335	0.40374	0.9173:0.0:0.0826:0.0	.	.	.	.	L	676;676;676;605;440	ENSP00000427882:I676L;ENSP00000313513:I676L;ENSP00000397243:I676L;ENSP00000393043:I605L;ENSP00000281412:I440L	ENSP00000281412:I440L	I	+	1	0	ANKAR	190280024	0.999000	0.42202	0.166000	0.22797	0.904000	0.53231	4.087000	0.57671	0.933000	0.37291	-0.250000	0.11733	ATC		0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
ZNF142	7701	broad.mit.edu	37	2	219507508	219507508	+	Missense_Mutation	SNP	C	C	T	rs200398690		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:219507508C>T	ENST00000449707.1	-	8	4152	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1244H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCGGTGCAAGCGCAGTTTCGA	0.542																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2																			0				breast(2)|ovary(1)|skin(1)	4						c.(3730-3732)CGC>CAC		zinc finger protein 142		C	HIS/ARG	3,4247		0,3,2122	105.0	114.0	111.0		3731	5.4	1.0	2		111	0,8464		0,0,4232	yes	missense	ZNF142	NM_001105537.1	29	0,3,6354	TT,TC,CC		0.0,0.0706,0.0236	probably-damaging	1244/1688	219507508	3,12711	2125	4232	6357	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507508C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3731G>A	2.37:g.219507508C>T	ENSP00000408643:p.Arg1244His					ZNF142_uc002vil.2_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.2_Missense_Mutation_p.R1081H|ZNF142_uc002vim.2_Missense_Mutation_p.R1081H	p.R1244H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	4167	-		Renal(207;0.0474)	1244			C2H2-type 18.		Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3731G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920326	0.92249	7.06E-4	0.0	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.61274	0.12;0.12	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67987	-0.5528	10	0.45353	T	0.12	-53.5349	19.4628	0.94924	0.0:1.0:0.0:0.0	.	1244;1081	P52746;A8MWU9	ZN142_HUMAN;.	H	1244	ENSP00000408643:R1244H;ENSP00000398798:R1244H	ENSP00000398798:R1244H	R	-	2	0	ZNF142	219215752	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	7.406000	0.80017	2.837000	0.97791	0.655000	0.94253	CGC		0.542	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
NYAP2	57624	broad.mit.edu	37	2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A	rs551391208		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:226447451G>A	ENST00000272907.6	+	4	1731	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	440	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.V440I(1)									TCCCTCCCCCGTCAGCATGGG	0.642																																						uc002voe.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(1318-1320)GTC>ATC		hypothetical protein LOC57624							35.0	39.0	37.0					2																	226447451		2007	4183	6190	SO:0001583	missense	57624							g.chr2:226447451G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1318G>A	2.37:g.226447451G>A	ENSP00000272907:p.Val440Ile					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V210I	p.V440I	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1493	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	440			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1318G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121708	0.77436	.	.	ENSG00000144460	ENST00000272907	T	0.33654	1.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.41538	-0.9503	10	0.30854	T	0.27	-12.6994	18.7321	0.91739	0.0:0.0:1.0:0.0	.	440	Q9P242	K1486_HUMAN	I	440	ENSP00000272907:V440I	ENSP00000272907:V440I	V	+	1	0	KIAA1486	226155695	1.000000	0.71417	0.039000	0.18376	0.943000	0.58893	9.476000	0.97823	2.415000	0.81967	0.563000	0.77884	GTC		0.642	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
TRPM8	79054	broad.mit.edu	37	2	234891861	234891861	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:234891861C>T	ENST00000324695.4	+	20	2794	c.2754C>T	c.(2752-2754)gaC>gaT	p.D918D	TRPM8_ENST00000433712.2_Silent_p.D496D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	918					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCCCAGTGACGTGGATGGTA	0.592																																						uc002vvh.2																			0				skin(4)	4						c.(2752-2754)GAC>GAT		transient receptor potential cation channel,	Menthol(DB00825)						75.0	69.0	71.0					2																	234891861		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234891861C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2754C>T	2.37:g.234891861C>T						TRPM8_uc010fyj.2_Silent_p.D496D|TRPM8_uc010fyk.2_RNA	p.D918D	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	20	2794	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	918			Extracellular (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2754C>T	CCDS33407.1																																																																																				0.592	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
VPS16	64601	broad.mit.edu	37	20	2843940	2843940	+	Missense_Mutation	SNP	G	G	A	rs377198108		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:2843940G>A	ENST00000380445.3	+	15	1444	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.V144M|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.V314M	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	458					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TACCAGGCTCGTGTTGCGGAG	0.592																																						uc002whe.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1372-1374)GTG>ATG		vacuolar protein sorting 16 isoform 1		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	91.0	81.0	85.0		1372,940	4.7	1.0	20		85	0,8600		0,0,4300	no	missense,missense	VPS16	NM_022575.2,NM_080413.1	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	458/840,314/696	2843940	1,13005	2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843940G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1372G>A	20.37:g.2843940G>A	ENSP00000369810:p.Val458Met					VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.V314M|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.V144M|VPS16_uc002whi.2_5'Flank	p.V458M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			15	1420	+			458					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1372G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867584	0.72065	2.27E-4	0.0	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.46451	0.87;0.88;0.87	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.94;0.983;0.962	T	0.64846	-0.6311	10	0.87932	D	0	-17.1139	15.1055	0.72319	0.0:0.0:1.0:0.0	.	144;314;458	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	M	458;314;196;144	ENSP00000369810:V458M;ENSP00000369836:V314M;ENSP00000369808:V144M	ENSP00000369808:V144M	V	+	1	0	VPS16	2791940	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	5.651000	0.67951	2.426000	0.82243	0.561000	0.74099	GTG		0.592	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
SMOX	54498	broad.mit.edu	37	20	4162543	4162543	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:4162543C>T	ENST00000305958.4	+	4	754	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	SMOX_ENST00000339123.6_Missense_Mutation_p.R177C|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.R177C|SMOX_ENST00000278795.3_Missense_Mutation_p.R177C	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	177					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGGTGCGTAACCGCAT	0.537																																						uc002wkm.1																			0				breast(1)	1						c.(529-531)CGT>TGT		spermine oxidase isoform 1	Spermine(DB00127)						91.0	89.0	90.0					20																	4162543		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4162543C>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.529C>T	20.37:g.4162543C>T	ENSP00000307252:p.Arg177Cys					SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R177C|SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wko.1_Missense_Mutation_p.R177C	p.R177C	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			4	730	+			177					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.529C>T	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852025	0.71719	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;T	0.92545	-3.06;-3.06;-3.06;-3.06;1.43	5.44	4.5	0.54988	Amine oxidase (1);	0.663946	0.16370	N	0.217380	D	0.94288	0.8165	L	0.58810	1.83	0.80722	D	1	D;B;D;D;B	0.89917	1.0;0.011;1.0;0.999;0.006	D;B;D;P;B	0.65773	0.938;0.01;0.938;0.804;0.004	D	0.93350	0.6717	10	0.54805	T	0.06	-10.3473	12.3563	0.55178	0.0:0.917:0.0:0.083	.	154;177;177;177;177	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	C	177;177;177;177;34	ENSP00000344595:R177C;ENSP00000307252:R177C;ENSP00000278795:R177C;ENSP00000368773:R177C;ENSP00000407269:R34C	ENSP00000278795:R177C	R	+	1	0	SMOX	4110543	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.089000	0.71384	1.313000	0.45069	0.558000	0.71614	CGT		0.537	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842	
ZNF831	128611	broad.mit.edu	37	20	57767832	57767832	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:57767832C>T	ENST00000371030.2	+	1	1758	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	586							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACACAGACGCAAAGAGAA	0.672																																						uc002yan.2																			0				skin(13)|ovary(1)	14						c.(1756-1758)GAC>GAT		zinc finger protein 831							19.0	23.0	22.0					20																	57767832		2033	4167	6200	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767832C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1758C>T	20.37:g.57767832C>T							p.D586D	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1758	+	all_lung(29;0.0085)		586					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1758C>T	CCDS42894.1																																																																																				0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
SAMSN1	64092	broad.mit.edu	37	21	15889263	15889263	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr21:15889263T>C	ENST00000400566.1	-	3	310	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.M145V	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	77					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTTCTTCATTGTCCATGAA	0.338																																						uc002yju.1																			0				ovary(3)|pancreas(1)	4						c.(229-231)ATG>GTG		SAM domain, SH3 domain and nuclear localization							133.0	116.0	121.0					21																	15889263		1795	4067	5862	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15889263T>C	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.229A>G	21.37:g.15889263T>C	ENSP00000383411:p.Met77Val					SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V	p.M77V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	3	311	-			77					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.229A>G	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022137	0.75275	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.66995	-0.24;-0.24	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.87900	2.915	0.53005	D	0.999963	P;P	0.47604	0.655;0.898	B;P	0.51415	0.269;0.669	T	0.82653	-0.0351	10	0.54805	T	0.06	-12.8173	15.3481	0.74359	0.0:0.0:0.0:1.0	.	145;77	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	V	145;77	ENSP00000285670:M145V;ENSP00000383411:M77V	ENSP00000285670:M145V	M	-	1	0	SAMSN1	14811134	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.666000	0.74446	2.033000	0.60031	0.533000	0.62120	ATG		0.338	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
CAND2	23066	broad.mit.edu	37	3	12858462	12858462	+	Silent	SNP	C	C	T	rs377443431		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:12858462C>T	ENST00000456430.2	+	10	2072	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_ENST00000295989.5_Silent_p.D584D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	677					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			2	Substitution - coding silent(2)		large_intestine(1)|prostate(1)	skin(3)|pancreas(1)	4						c.(2029-2031)GAC>GAT		TBP-interacting protein isoform 1		C	,	2,4054		0,2,2026	24.0	26.0	25.0		2031,1752	-9.9	0.2	3		25	0,8374		0,0,4187	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,2,6213	TT,TC,CC		0.0,0.0493,0.0161	,	677/1237,584/1120	12858462	2,12428	2028	4187	6215	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858462C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2031C>T	3.37:g.12858462C>T						CAND2_uc003bxj.2_Silent_p.D584D	p.D677D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			10	2080	+			677			HEAT 14.		B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.2031C>T	CCDS54554.1																																																																																				0.662	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
SCN10A	6336	broad.mit.edu	37	3	38748876	38748876	+	Splice_Site	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:38748876T>C	ENST00000449082.2	-	25	4281		c.e25-2			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCCCCTAAGTGCAGAGAGGG	0.512																																						uc003ciq.2																			0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.e25-1		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						93.0	96.0	95.0					3																	38748876		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38748876T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4282-2A>G	3.37:g.38748876T>C							p.L1428_splice	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4282	-								A6NDQ1	Splice_Site	SNP	ENST00000449082.2	37	c.4282_splice	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330021	0.81690	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6558	0.68833	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN10A	38723880	1.000000	0.71417	0.974000	0.42286	0.965000	0.64279	7.819000	0.86621	2.058000	0.61347	0.459000	0.35465	.		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Intron
PCOLCE2	26577	broad.mit.edu	37	3	142557612	142557612	+	Splice_Site	SNP	G	G	A	rs532109090		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:142557612G>A	ENST00000295992.3	-	5	1016	c.710C>T	c.(709-711)gCg>gTg	p.A237V	PCOLCE2_ENST00000485766.1_Splice_Site_p.A237V	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	237	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGCTACTTACGCAGGTGGACT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		15224	0.0		0.0	False		,,,				2504	0.001					uc003evd.2																			0				ovary(2)|skin(1)	3						c.(709-711)GCG>GTG		procollagen C-endopeptidase enhancer 2							123.0	112.0	116.0					3																	142557612		2203	4300	6503	SO:0001630	splice_region_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142557612G>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.710+1C>T	3.37:g.142557612G>A							p.A237V	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			5	906	-			237			CUB 2.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.710C>T	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715748	0.48622	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.18657	2.2;2.2	5.77	3.05	0.35203	CUB (5);	0.154211	0.64402	N	0.000020	T	0.19525	0.0469	L	0.53617	1.68	0.58432	D	0.999997	B	0.15930	0.015	B	0.16289	0.015	T	0.04454	-1.0950	9	.	.	.	-6.9648	11.0301	0.47767	0.2006:0.0:0.7994:0.0	.	237	Q9UKZ9	PCOC2_HUMAN	V	237	ENSP00000295992:A237V;ENSP00000419842:A237V	.	A	-	2	0	PCOLCE2	144040302	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	4.534000	0.60622	0.377000	0.24735	-0.194000	0.12790	GCG;GCT		0.378	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	Missense_Mutation
GPR78	27201	broad.mit.edu	37	4	8582980	8582980	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:8582980T>C	ENST00000382487.4	+	1	688	c.271T>C	c.(271-273)Tcc>Ccc	p.S91P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	91					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCTGGCGTCCAACGCGGC	0.706																																						uc003glk.2																			0				central_nervous_system(4)|ovary(2)	6						c.(271-273)TCC>CCC		G protein-coupled receptor 78							10.0	12.0	11.0					4																	8582980		2194	4283	6477	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8582980T>C	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.271T>C	4.37:g.8582980T>C	ENSP00000371927:p.Ser91Pro					CPZ_uc003gll.2_RNA	p.S91P	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			1	690	+			91			Helical; Name=3; (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.271T>C	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400876	0.62177	.	.	ENSG00000155269	ENST00000382487	T	0.72615	-0.67	2.69	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.364719	0.25208	U	0.032325	T	0.74756	0.3758	L	0.42245	1.32	0.26775	N	0.969729	D	0.69078	0.997	D	0.65874	0.939	T	0.65841	-0.6070	10	0.87932	D	0	.	9.7588	0.40519	0.0:0.0:0.0:1.0	.	91	Q96P69	GPR78_HUMAN	P	91	ENSP00000371927:S91P	ENSP00000371927:S91P	S	+	1	0	GPR78	8633880	0.888000	0.30383	0.003000	0.11579	0.962000	0.63368	1.095000	0.30964	0.852000	0.35287	0.260000	0.18958	TCC		0.706	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		
NCAPG	64151	broad.mit.edu	37	4	17816578	17816578	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:17816578G>A	ENST00000251496.2	+	4	823	c.647G>A	c.(646-648)cGc>cAc	p.R216H		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	216					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)				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)		ATTGTAGGGCGCACCAAGGAT	0.398																																						uc003gpp.2																			0				large_intestine(1)	1						c.(646-648)CGC>CAC		chromosome condensation protein G							93.0	87.0	89.0					4																	17816578		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17816578G>A	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.647G>A	4.37:g.17816578G>A	ENSP00000251496:p.Arg216His					NCAPG_uc011bxj.1_5'UTR	p.R216H	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	4	823	+			216					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.647G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431352	0.96150	.	.	ENSG00000109805	ENST00000251496	T	0.46063	0.88	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71286	-0.4638	10	0.87932	D	0	-7.7618	20.3931	0.98965	0.0:0.0:1.0:0.0	.	216	Q9BPX3	CND3_HUMAN	H	216	ENSP00000251496:R216H	ENSP00000251496:R216H	R	+	2	0	NCAPG	17425676	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	9.096000	0.94182	2.824000	0.97209	0.655000	0.94253	CGC		0.398	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
LGI2	55203	broad.mit.edu	37	4	25014103	25014103	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:25014103G>T	ENST00000382114.4	-	7	859	c.674C>A	c.(673-675)aCt>aAt	p.T225N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	225						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTAGGGTAAAGTCTGATGAAC	0.473																																						uc003grf.2																			0					0						c.(673-675)ACT>AAT		leucine-rich repeat LGI family, member 2							95.0	88.0	91.0					4																	25014103		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25014103G>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.674C>A	4.37:g.25014103G>T	ENSP00000371548:p.Thr225Asn						p.T225N	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			7	773	-		Breast(46;0.173)	225			EAR 1.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.674C>A	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300234	0.60195	.	.	ENSG00000153012	ENST00000382114	T	0.80393	-1.37	4.81	3.95	0.45737	.	0.327890	0.34314	N	0.004067	T	0.74374	0.3708	L	0.43923	1.385	0.35296	D	0.782596	P	0.34699	0.464	B	0.42593	0.392	T	0.77715	-0.2484	10	0.46703	T	0.11	-12.2357	4.7964	0.13274	0.3151:0.0:0.6849:0.0	.	225	Q8N0V4	LGI2_HUMAN	N	225	ENSP00000371548:T225N	ENSP00000371548:T225N	T	-	2	0	LGI2	24623201	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	4.959000	0.63666	2.373000	0.80994	0.555000	0.69702	ACT		0.473	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
GABRG1	2565	broad.mit.edu	37	4	46043100	46043100	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:46043100G>A	ENST00000295452.4	-	9	1470	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	435					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R435C(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGGCAATGCGTATGTGTATC	0.403																																						uc003gxb.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(1303-1305)CGC>TGC		gamma-aminobutyric acid A receptor, gamma 1							132.0	133.0	132.0					4																	46043100		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043100G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1303C>T	4.37:g.46043100G>A	ENSP00000295452:p.Arg435Cys						p.R435C	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1455	-			435			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1303C>T	CCDS3470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.211790|5.211790	0.95069|0.95069	.|.	.|.	ENSG00000163285|ENSG00000163285	ENST00000295452|ENST00000540030	D|.	0.84660|.	-1.88|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);|.	0.117464|.	0.64402|.	D|.	0.000011|.	T|T	0.74891|0.74891	0.3776|0.3776	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65010|.	0.931|.	T|T	0.72050|0.72050	-0.4407|-0.4407	10|6	0.72032|0.33141	D|T	0.01|0.24	.|.	18.356|18.356	0.90357|0.90357	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	435|.	Q8N1C3|.	GBRG1_HUMAN|.	C|M	435|415	ENSP00000295452:R435C|.	ENSP00000295452:R435C|ENSP00000445441:T415M	R|T	-|-	1|2	0|0	GABRG1|GABRG1	45737857|45737857	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.973000|0.973000	0.67179|0.67179	7.919000|7.919000	0.87513|0.87513	2.580000|2.580000	0.87095|0.87095	0.585000|0.585000	0.79938|0.79938	CGC|ACG		0.403	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
UGT2B4	7363	broad.mit.edu	37	4	70361563	70361563	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:70361563G>A	ENST00000305107.6	-	1	63	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B4_ENST00000512583.1_Missense_Mutation_p.T6I|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	6					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AAGAGCTGAAGTCCATTTCAT	0.443																																						uc003hek.3																			0				skin(2)	2						c.(16-18)ACT>ATT		UDP glucuronosyltransferase 2B4 precursor							147.0	143.0	144.0					4																	70361563		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361563G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.17C>T	4.37:g.70361563G>A	ENSP00000305221:p.Thr6Ile					UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.T6I	p.T6I	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	64	-			6					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.17C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.447186	0.01089	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.59364	0.91;0.27;2.97	2.41	-3.08	0.05347	.	1.161080	0.06751	N	0.779990	T	0.28797	0.0714	N	0.05230	-0.09	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.12837	0.002;0.008	T	0.22800	-1.0206	10	0.08381	T	0.77	.	7.0339	0.24983	0.6879:0.0:0.3121:0.0	.	6;6	G5E9X8;P06133	.;UD2B4_HUMAN	I	6	ENSP00000421290:T6I;ENSP00000305221:T6I;ENSP00000421113:T6I	ENSP00000305221:T6I	T	-	2	0	UGT2B4	70396152	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-0.378000	0.07446	-0.764000	0.04651	0.306000	0.20318	ACT		0.443	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
PF4	5196	broad.mit.edu	37	4	74847163	74847163	+	Silent	SNP	G	G	A	rs144253863		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:74847163G>A	ENST00000296029.3	-	2	359	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	63					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGTGGGGTCCGGCCTTGATCA	0.612																																						uc003hhi.2																			0					0						c.(187-189)GCC>GCT		platelet factor 4 (chemokine (C-X-C motif)	Drotrecogin alfa(DB00055)	G		0,4406		0,0,2203	76.0	72.0	73.0		189	-5.3	0.0	4	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PF4	NM_002619.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		63/102	74847163	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74847163G>A	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"""chemokine (C-X-C motif) ligand 4"""	173460	"""platelet factor 4"""			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.189C>T	4.37:g.74847163G>A							p.A63A	NM_002619	NP_002610	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		2	234	-	Breast(15;0.00136)		63					Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	37	c.189C>T	CCDS3562.1																																																																																				0.612	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1		
MEPE	56955	broad.mit.edu	37	4	88766796	88766796	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:88766796G>A	ENST00000424957.3	+	4	849	c.776G>A	c.(775-777)gGc>gAc	p.G259D	MEPE_ENST00000361056.3_Missense_Mutation_p.G259D|MEPE_ENST00000497649.2_Missense_Mutation_p.G235D|MEPE_ENST00000560249.1_Missense_Mutation_p.G146D|MEPE_ENST00000540395.1_Missense_Mutation_p.G146D|MEPE_ENST00000395102.4_Missense_Mutation_p.G290D|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	259					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGTGGGGACGGCCAACCTTTT	0.453																																						uc003hqy.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(775-777)GGC>GAC		matrix, extracellular phosphoglycoprotein with							61.0	61.0	61.0					4																	88766796		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766796G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.776G>A	4.37:g.88766796G>A	ENSP00000416984:p.Gly259Asp					MEPE_uc010ikn.2_Missense_Mutation_p.G146D	p.G259D	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	815	+		Hepatocellular(203;0.114)	259					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.776G>A	CCDS3625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.69|18.69	3.678159|3.678159	0.68042|0.68042	.|.	.|.	ENSG00000152595|ENSG00000152595	ENST00000535138|ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	.|T;T;T;T;T	.|0.56941	.|0.44;0.46;0.43;0.46;0.44	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	.|0.000000	.|0.47852	.|D	.|0.000203	T|T	0.71945|0.71945	0.3400|0.3400	M|M	0.83774|0.83774	2.66|2.66	0.39810|0.39810	D|D	0.972693|0.972693	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.77178|0.77178	-0.2683|-0.2683	6|10	0.87932|0.87932	D|D	0|0	-20.7018|-20.7018	11.5944|11.5944	0.50964|0.50964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|259	.|Q9NQ76	.|MEPE_HUMAN	T|D	259|259;290;235;146;259	.|ENSP00000416984:G259D;ENSP00000378534:G290D;ENSP00000422747:G235D;ENSP00000443491:G146D;ENSP00000354341:G259D	ENSP00000445423:A259T|ENSP00000354341:G259D	A|G	+|+	1|2	0|0	MEPE|MEPE	88985820|88985820	0.970000|0.970000	0.33590|0.33590	0.972000|0.972000	0.41901|0.41901	0.927000|0.927000	0.56198|0.56198	1.910000|1.910000	0.39927|0.39927	2.453000|2.453000	0.82957|0.82957	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.453	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		
FAM13A	10144	broad.mit.edu	37	4	89668975	89668975	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:89668975T>C	ENST00000264344.5	-	18	2396	c.2189A>G	c.(2188-2190)gAc>gGc	p.D730G	FAM13A_ENST00000503556.1_Missense_Mutation_p.D390G|FAM13A_ENST00000511976.1_Missense_Mutation_p.D316G|FAM13A_ENST00000395002.2_Missense_Mutation_p.D404G|FAM13A_ENST00000513837.1_Missense_Mutation_p.D376G|FAM13A_ENST00000508369.1_Missense_Mutation_p.D404G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	730					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGTTAGGTCCTCTTCAGA	0.398																																						uc003hse.1																			0				ovary(1)|liver(1)	2						c.(2188-2190)GAC>GGC		family with sequence similarity 13, member A1							83.0	92.0	89.0					4																	89668975		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89668975T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2189A>G	4.37:g.89668975T>C	ENSP00000264344:p.Asp730Gly					FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G	p.D730G	NM_014883	NP_055698	O94988	FA13A_HUMAN			18	2397	-			730			Potential.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.2189A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.430662	0.43122	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.47177	0.85;2.12;1.44;1.46;1.44;1.44	5.26	4.09	0.47781	.	0.101129	0.64402	D	0.000003	T	0.48021	0.1477	L	0.54323	1.7	0.80722	D	1	P;P;D;P;P;P	0.58268	0.57;0.86;0.982;0.837;0.51;0.702	B;P;P;P;B;B	0.48738	0.294;0.453;0.588;0.558;0.23;0.438	T	0.37596	-0.9699	10	0.23302	T	0.38	.	12.1475	0.54031	0.0:0.0:0.1558:0.8442	.	376;316;730;404;390;404	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	G	404;730;390;316;404;376	ENSP00000378450:D404G;ENSP00000264344:D730G;ENSP00000427189:D390G;ENSP00000421914:D316G;ENSP00000421562:D404G;ENSP00000423252:D376G	ENSP00000264344:D730G	D	-	2	0	FAM13A	89887998	1.000000	0.71417	0.970000	0.41538	0.275000	0.26752	6.022000	0.70839	1.013000	0.39391	0.533000	0.62120	GAC		0.398	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
CDH18	1016	broad.mit.edu	37	5	19747074	19747074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:19747074G>A	ENST00000507958.1	-	6	1490	c.500C>T	c.(499-501)aCt>aTt	p.T167I	CDH18_ENST00000502796.1_Missense_Mutation_p.T167I|CDH18_ENST00000511273.1_Missense_Mutation_p.T167I|CDH18_ENST00000506372.1_Missense_Mutation_p.T167I|CDH18_ENST00000274170.4_Missense_Mutation_p.T167I|CDH18_ENST00000382275.1_Missense_Mutation_p.T167I			Q13634	CAD18_HUMAN	cadherin 18, type 2	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCAGGCACAGTAACAATGTA	0.338																																						uc003jgc.2																			0				ovary(5)|large_intestine(1)|skin(1)	7						c.(499-501)ACT>ATT		cadherin 18, type 2 preproprotein							124.0	122.0	123.0					5																	19747074		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747074G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.500C>T	5.37:g.19747074G>A	ENSP00000425093:p.Thr167Ile					CDH18_uc003jgd.2_Missense_Mutation_p.T167I|CDH18_uc011cnm.1_Missense_Mutation_p.T167I	p.T167I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	877	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		167			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.500C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796257	0.70567	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.88	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	L	0.32530	0.975	0.46376	D	0.999012	P;P	0.49253	0.921;0.906	P;P	0.56163	0.793;0.645	T	0.53746	-0.8395	9	.	.	.	.	16.587	0.84729	0.0:0.0:1.0:0.0	.	167;167	B4DHG6;Q13634	.;CAD18_HUMAN	I	167;167;167;167;167;167;113;167	ENSP00000371710:T167I;ENSP00000425093:T167I;ENSP00000274170:T167I;ENSP00000424931:T167I;ENSP00000422138:T167I;ENSP00000427383:T113I;ENSP00000425854:T167I	.	T	-	2	0	CDH18	19782831	1.000000	0.71417	0.818000	0.32626	0.988000	0.76386	6.208000	0.72165	2.253000	0.74438	0.591000	0.81541	ACT		0.338	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
MROH2B	133558	broad.mit.edu	37	5	41012778	41012778	+	Silent	SNP	G	G	A	rs565304743		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:41012778G>A	ENST00000399564.4	-	30	3492	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	MROH2B_ENST00000506092.2_Silent_p.D569D	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1014																	TCTCCAGACCGTCCAGCATTT	0.478																																						uc003jmj.3																			0				ovary(6)|central_nervous_system(2)	8						c.(3040-3042)GAC>GAT		HEAT repeat family member 7B2							125.0	122.0	123.0					5																	41012778		1914	4142	6056	SO:0001819	synonymous_variant	133558						binding	g.chr5:41012778G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3042C>T	5.37:g.41012778G>A						HEATR7B2_uc003jmi.3_Silent_p.D569D	p.D1014D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			30	3532	-			1014					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3042C>T	CCDS47202.1																																																																																				0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
TTC37	9652	broad.mit.edu	37	5	94834176	94834176	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:94834176T>A	ENST00000358746.2	-	33	3759	c.3461A>T	c.(3460-3462)cAc>cTc	p.H1154L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1154						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGTCTTTGTGTTTGATGTG	0.448																																						uc003klb.2																			0				ovary(3)|pancreas(1)	4						c.(3460-3462)CAC>CTC		tetratricopeptide repeat domain 37							209.0	196.0	201.0					5																	94834176		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94834176T>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3461A>T	5.37:g.94834176T>A	ENSP00000351596:p.His1154Leu						p.H1154L	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			33	3731	-			1154					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3461A>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	4.725	0.134834	0.09032	.	.	ENSG00000198677	ENST00000358746	T	0.28069	1.63	5.72	0.128	0.14733	Tetratricopeptide-like helical (1);	1.475600	0.03218	N	0.177095	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.25751	T	0.34	.	0.4415	0.00487	0.2524:0.2505:0.1305:0.3666	.	1154	Q6PGP7	TTC37_HUMAN	L	1154	ENSP00000351596:H1154L	ENSP00000351596:H1154L	H	-	2	0	TTC37	94859932	0.000000	0.05858	0.035000	0.18076	0.873000	0.50193	0.627000	0.24506	0.083000	0.17047	0.460000	0.39030	CAC		0.448	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
SPOCK1	6695	broad.mit.edu	37	5	136476318	136476318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:136476318G>A	ENST00000394945.1	-	4	467	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SPOCK1_ENST00000282223.7_Nonsense_Mutation_p.Q100*	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	100					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGTAGTCCTGGGTCACACAC	0.617																																						uc003lbo.2																			0				ovary(1)	1						c.(298-300)CAG>TAG		sparc/osteonectin, cwcv and kazal-like domains							74.0	60.0	65.0					5																	136476318		2203	4300	6503	SO:0001587	stop_gained	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136476318G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.298C>T	5.37:g.136476318G>A	ENSP00000378401:p.Gln100*					SPOCK1_uc003lbp.2_Nonsense_Mutation_p.Q100*	p.Q100*	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	489	-			100					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Nonsense_Mutation	SNP	ENST00000394945.1	37	c.298C>T	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	G	37	6.433033	0.97564	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	.	.	.	5.74	5.74	0.90152	.	0.208608	0.41294	D	0.000914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000282223:Q100X	Q	-	1	0	SPOCK1	136504217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.435000	0.73412	2.704000	0.92352	0.650000	0.86243	CAG		0.617	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	
GTF2H4	2968	broad.mit.edu	37	6	30876944	30876944	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:30876944T>G	ENST00000259895.4	+	2	354	c.131T>G	c.(130-132)gTc>gGc	p.V44G	GTF2H4_ENST00000539324.1_Intron|GTF2H4_ENST00000376316.2_Missense_Mutation_p.V44G|RN7SL175P_ENST00000580375.1_RNA	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	44					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGTCTGGCTGTCTTCAGGTGA	0.527								Nucleotide excision repair (NER)																														uc003nsa.1																			0				ovary(2)|breast(1)	3						c.(130-132)GTC>GGC	NER	general transcription factor IIH, polypeptide 4,							43.0	41.0	42.0					6																	30876944		2203	4300	6503	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30876944T>G	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.131T>G	6.37:g.30876944T>G	ENSP00000259895:p.Val44Gly					GTF2H4_uc010jsf.2_Missense_Mutation_p.V44G|GTF2H4_uc011dmv.1_Intron|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.V50G	p.V44G	NM_001517	NP_001508	Q92759	TF2H4_HUMAN			2	338	+			44					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.131T>G	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222166	0.79464	.	.	ENSG00000213780	ENST00000259895;ENST00000376316;ENST00000453897	T;T;T	0.55413	0.52;0.52;0.52	4.44	4.44	0.53790	.	0.202719	0.30510	U	0.009477	T	0.67078	0.2855	M	0.86864	2.845	0.80722	D	1	D;D;D	0.63046	0.992;0.965;0.98	D;D;D	0.67103	0.949;0.932;0.932	T	0.74375	-0.3686	10	0.87932	D	0	-37.9082	11.7261	0.51710	0.0:0.0:0.0:1.0	.	50;44;44	B4DNU0;Q53HH3;Q92759	.;.;TF2H4_HUMAN	G	44	ENSP00000259895:V44G;ENSP00000365493:V44G;ENSP00000410160:V44G	ENSP00000259895:V44G	V	+	2	0	GTF2H4	30984923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.699000	0.74613	1.866000	0.54105	0.459000	0.35465	GTC		0.527	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517	
LYPLA2P1	653639	broad.mit.edu	37	6	33333333	33333333	+	IGR	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:33333333G>A								DAXX (42542 upstream) : KIFC1 (25979 downstream)																							AGTTAGACAGGAGGCAGCAGC	0.577																																						uc003shx.2																			0					0						c.(673-675)CCT>TCT		SubName: Full=Lysophospholipase II; Flags: Fragment;																																				SO:0001628	intergenic_variant	653639							g.chr6:33333333G>A																													6.37:g.33333333G>A							p.P225S	NR_001444						1	807	-									Missense_Mutation	SNP		37	c.673C>T																																																																																				0	0.577								
LYPLA2P1	653639	broad.mit.edu	37	6	33333342	33333342	+	IGR	SNP	G	G	A	rs368064536		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:33333342G>A								DAXX (42551 upstream) : KIFC1 (25970 downstream)																							GGAGGCAGCAGCTTCTCAAGA	0.562																																						uc003shx.2																			0					0						c.(664-666)CTG>TTG		SubName: Full=Lysophospholipase II; Flags: Fragment;																																				SO:0001628	intergenic_variant	653639							g.chr6:33333342G>A																													6.37:g.33333342G>A							p.L222L	NR_001444						1	798	-									Silent	SNP		37	c.664C>T																																																																																				0	0.562								
AARS2	57505	broad.mit.edu	37	6	44268962	44268962	+	Silent	SNP	G	G	C	rs185572013		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:44268962G>C	ENST00000244571.4	-	21	2726	c.2724C>G	c.(2722-2724)ccC>ccG	p.P908P	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGACGTGCTGGGGGCCTGCT	0.647																																						uc010jza.1																			0				ovary(1)	1						c.(2722-2724)CCC>CCG		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						44.0	49.0	48.0					6																	44268962		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44268962G>C	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2724C>G	6.37:g.44268962G>C						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.P908P	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		21	2727	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		908						Silent	SNP	ENST00000244571.4	37	c.2724C>G	CCDS34464.1																																																																																				0.647	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
LGSN	51557	broad.mit.edu	37	6	63991036	63991036	+	Silent	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:63991036G>T	ENST00000370657.4	-	4	453	c.420C>A	c.(418-420)gcC>gcA	p.A140A	LGSN_ENST00000370658.5_Silent_p.A140A			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	140					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAAAACATGTGGCTCTTATGT	0.408																																						uc003peh.2																			0				skin(2)	2						c.(418-420)GCC>GCA		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						129.0	123.0	126.0					6																	63991036		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63991036G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.420C>A	6.37:g.63991036G>T						LGSN_uc003pei.2_Silent_p.A140A	p.A140A	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	454	-			140					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.420C>A	CCDS4964.1																																																																																				0.408	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
SLC22A2	6582	broad.mit.edu	37	6	160679391	160679391	+	Silent	SNP	C	C	T	rs112210325	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:160679391C>T	ENST00000366953.3	-	1	657	c.399G>A	c.(397-399)tcG>tcA	p.S133S	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.S112S	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	133					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TGACGATGGACGAGCCAGGCG	0.627																																						uc003qtf.2																			0				breast(1)|skin(1)	2						c.(397-399)TCG>TCA		solute carrier family 22 member 2							59.0	66.0	64.0					6																	160679391		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679391C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.399G>A	6.37:g.160679391C>T						SLC22A2_uc003qte.1_Silent_p.S133S|SLC22A2_uc003qth.1_Silent_p.S133S	p.S133S	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	1	569	-		Breast(66;0.000776)|Ovarian(120;0.0303)	133			Extracellular (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.399G>A	CCDS5276.1																																																																																				0.627	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:168317900delT	ENST00000447894.2	+	19	2676	c.2676delT	c.(2674-2676)cctfs	p.P892fs	MLLT4_ENST00000366806.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	892	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(2671-2673)CCTfs		myeloid/lymphoid or mixed-lineage leukemia							177.0	166.0	170.0					6																	168317900		2203	4300	6503	SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168317900delT	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2676delT	6.37:g.168317900delT	ENSP00000404595:p.Pro892fs					MLLT4_uc003qwb.1_Frame_Shift_Del_p.P876fs|MLLT4_uc003qwc.1_Frame_Shift_Del_p.P892fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.P201fs	p.P891fs	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	19	2815	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	892			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37	c.2673delT																																																																																					0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
MAD1L1	8379	broad.mit.edu	37	7	2269722	2269722	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:2269722G>A	ENST00000406869.1	-	3	604	c.47C>T	c.(46-48)tCt>tTt	p.S16F	MAD1L1_ENST00000265854.7_Missense_Mutation_p.S16F|MAD1L1_ENST00000399654.2_Missense_Mutation_p.S16F|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	16					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTTGTTCAAAGATCTCAGGGT	0.537																																						uc003slh.1																			0				lung(1)|central_nervous_system(1)	2						c.(46-48)TCT>TTT		MAD1-like 1 protein							56.0	64.0	61.0					7																	2269722		2008	4167	6175	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2269722G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.47C>T	7.37:g.2269722G>A	ENSP00000385334:p.Ser16Phe					MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.2_Missense_Mutation_p.S16F	p.S16F	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	3	313	-		Ovarian(82;0.0272)	16					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.47C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044838	0.55110	.	.	ENSG00000002822	ENST00000399654;ENST00000406869;ENST00000265854;ENST00000455998;ENST00000429779	T;T;T;T;T	0.59772	1.4;1.4;1.4;0.24;1.4	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	M	0.61703	1.905	0.50467	D	0.999871	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.966	T	0.75639	-0.3248	10	0.72032	D	0.01	-5.3235	16.7698	0.85534	0.0:0.0:1.0:0.0	.	16;16	A4D218;Q9Y6D9	.;MD1L1_HUMAN	F	16	ENSP00000382562:S16F;ENSP00000385334:S16F;ENSP00000265854:S16F;ENSP00000390099:S16F;ENSP00000395457:S16F	ENSP00000265854:S16F	S	-	2	0	MAD1L1	2236248	1.000000	0.71417	0.778000	0.31720	0.997000	0.91878	7.461000	0.80834	2.643000	0.89663	0.655000	0.94253	TCT		0.537	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
SDK1	221935	broad.mit.edu	37	7	4009042	4009042	+	Missense_Mutation	SNP	C	C	T	rs145189416	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:4009042C>T	ENST00000404826.2	+	11	1839	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	SDK1_ENST00000389531.3_Missense_Mutation_p.T567M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	567	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCATCGGCCACGCTCACTGTG	0.587													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15964	0.001		0.0	False		,,,				2504	0.0					uc003smx.2																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1699-1701)ACG>ATG		sidekick 1 precursor		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	80.0	80.0	80.0		1700	-1.5	0.0	7	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	no	missense	SDK1	NM_152744.3	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	567/2214	4009042	3,13003	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4009042C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1700C>T	7.37:g.4009042C>T	ENSP00000385899:p.Thr567Met						p.T567M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1839	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	567			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1700C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	2.019	-0.425247	0.04701	2.27E-4	2.33E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68903	-0.36;-0.36	5.63	-1.52	0.08637	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.914660	0.09343	N	0.815194	T	0.52191	0.1719	L	0.48362	1.52	0.09310	N	1	B	0.24368	0.102	B	0.20767	0.031	T	0.37150	-0.9718	10	0.30854	T	0.27	.	4.8079	0.13329	0.2345:0.292:0.0:0.4735	.	567	Q7Z5N4	SDK1_HUMAN	M	567	ENSP00000385899:T567M;ENSP00000374182:T567M	ENSP00000374182:T567M	T	+	2	0	SDK1	3975568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.470000	0.02346	-0.119000	0.11830	-0.812000	0.03155	ACG		0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
POM121L12	285877	broad.mit.edu	37	7	53103741	53103741	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:53103741G>A	ENST00000408890.4	+	1	393	c.377G>A	c.(376-378)cGt>cAt	p.R126H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	126										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCTGTGTCGTGCCTGGAAC	0.701																																						uc003tpz.2																			0					0						c.(376-378)CGT>CAT		POM121 membrane glycoprotein-like 12							30.0	35.0	33.0					7																	53103741		1986	4136	6122	SO:0001583	missense	285877							g.chr7:53103741G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.377G>A	7.37:g.53103741G>A	ENSP00000386133:p.Arg126His						p.R126H	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	393	+			126					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.377G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176664	0.38413	.	.	ENSG00000221900	ENST00000408890	T	0.23348	1.91	2.69	1.78	0.24846	.	.	.	.	.	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.57324	0.818	T	0.09185	-1.0686	9	0.56958	D	0.05	.	6.0616	0.19841	0.1629:0.0:0.8371:0.0	.	126	Q8N7R1	P1L12_HUMAN	H	126	ENSP00000386133:R126H	ENSP00000386133:R126H	R	+	2	0	POM121L12	53071235	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.085000	0.11250	0.433000	0.26313	0.462000	0.41574	CGT		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
DGKI	9162	broad.mit.edu	37	7	137363356	137363356	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:137363356C>T	ENST00000288490.5	-	3	553	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.V185I|DGKI_ENST00000446122.1_Missense_Mutation_p.V185I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	185					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507																																						uc003vtt.2																			0				ovary(1)|kidney(1)|skin(1)	3						c.(553-555)GTC>ATC		diacylglycerol kinase, iota							167.0	154.0	158.0					7																	137363356		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137363356C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.553G>A	7.37:g.137363356C>T	ENSP00000288490:p.Val185Ile					DGKI_uc003vtu.2_5'UTR	p.V185I	NM_004717	NP_004708	O75912	DGKI_HUMAN			3	554	-			185			Phorbol-ester/DAG-type 1.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.553G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502600	0.64298	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.84660	-1.88;-1.88	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.112824	0.64402	D	0.000008	T	0.79667	0.4485	L	0.54323	1.7	0.35774	D	0.821112	P	0.37525	0.598	B	0.22601	0.04	T	0.82756	-0.0300	10	0.26408	T	0.33	.	17.9582	0.89076	0.0:1.0:0.0:0.0	.	185	O75912	DGKI_HUMAN	I	133;185;185;185	ENSP00000288490:V185I;ENSP00000399131:V185I	ENSP00000288490:V185I	V	-	1	0	DGKI	137013896	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.667000	0.54547	2.534000	0.85438	0.467000	0.42956	GTC		0.507	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
HTR5A	3361	broad.mit.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:154863096G>A	ENST00000287907.2	+	1	1063	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGTCATGATCGCGCTCACCTG	0.627																																						uc003wlu.1																			0				ovary(2)|large_intestine(1)	3						c.(487-489)GCG>ACG		5-hydroxytryptamine receptor 5A							102.0	74.0	84.0					7																	154863096		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863096G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.487G>A	7.37:g.154863096G>A	ENSP00000287907:p.Ala163Thr					uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	p.A163T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	551	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	163			Helical; Name=4; (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.487G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	6.284	0.420448	0.11928	.	.	ENSG00000157219	ENST00000287907	T	0.39997	1.05	4.75	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	1.020240	0.07783	N	0.953679	T	0.29061	0.0722	L	0.39245	1.2	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.30031	-0.9992	10	0.21540	T	0.41	.	7.9454	0.29982	0.2722:0.3975:0.3303:0.0	.	163	P47898	5HT5A_HUMAN	T	163	ENSP00000287907:A163T	ENSP00000287907:A163T	A	+	1	0	HTR5A	154494029	0.004000	0.15560	0.002000	0.10522	0.334000	0.28698	1.467000	0.35321	-0.612000	0.05701	-0.176000	0.13171	GCG		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
EN2	2020	broad.mit.edu	37	7	155251752	155251752	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:155251752C>T	ENST00000297375.4	+	1	929	c.680C>T	c.(679-681)tCt>tTt	p.S227F	AC008060.8_ENST00000419225.1_lincRNA	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	227					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCGGCCTTCTTCAGGTGAG	0.726																																						uc003wmb.2																			0				central_nervous_system(1)	1						c.(679-681)TCT>TTT		engrailed homeobox 2							8.0	9.0	9.0					7																	155251752		1953	4132	6085	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155251752C>T		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.680C>T	7.37:g.155251752C>T	ENSP00000297375:p.Ser227Phe						p.S227F	NM_001427	NP_001418	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	929	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	227					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.680C>T	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033864	0.93575	.	.	ENSG00000164778	ENST00000297375	D	0.92299	-3.01	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.96242	0.9176	10	0.46703	T	0.11	-3.1947	16.9987	0.86376	0.0:1.0:0.0:0.0	.	227	P19622	HME2_HUMAN	F	227	ENSP00000297375:S227F	ENSP00000297375:S227F	S	+	2	0	EN2	154944513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.326000	0.79133	2.001000	0.58596	0.561000	0.74099	TCT		0.726	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427	
LMBR1	64327	broad.mit.edu	37	7	156521400	156521400	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:156521400C>G	ENST00000353442.5	-	11	1089	c.853G>C	c.(853-855)Gct>Cct	p.A285P	LMBR1_ENST00000354505.4_Missense_Mutation_p.A326P|LMBR1_ENST00000540390.1_Missense_Mutation_p.A264P|LMBR1_ENST00000359422.4_Missense_Mutation_p.A133P	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	285					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATGCTGAAGCCTTTTTTCGC	0.299																																						uc003wmw.3																			0					0						c.(853-855)GCT>CCT		limb region 1 protein							84.0	87.0	86.0					7																	156521400		2203	4299	6502	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156521400C>G	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.853G>C	7.37:g.156521400C>G	ENSP00000326604:p.Ala285Pro					LMBR1_uc003wmv.3_Missense_Mutation_p.A133P|LMBR1_uc003wmx.3_Missense_Mutation_p.A133P|LMBR1_uc010lqn.2_Missense_Mutation_p.A326P|LMBR1_uc011kvx.1_Missense_Mutation_p.A264P	p.A285P	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	11	1068	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	285			Potential.|Cytoplasmic (Potential).		A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.853G>C	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687967	0.88639	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.02	5.02	0.67125	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	T	0.56251	-0.8010	10	0.66056	D	0.02	-11.0289	17.9442	0.89035	0.0:1.0:0.0:0.0	.	264;326;285	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	P	285;133;324;326;264	ENSP00000326604:A285P;ENSP00000352392:A133P;ENSP00000408256:A324P;ENSP00000346500:A326P;ENSP00000445509:A264P	ENSP00000326604:A285P	A	-	1	0	LMBR1	156214161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.516000	0.73755	2.328000	0.79073	0.655000	0.94253	GCT		0.299	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458	
TUSC3	7991	broad.mit.edu	37	8	15508246	15508246	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:15508246C>T	ENST00000503731.1	+	3	497	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	TUSC3_ENST00000506802.1_Missense_Mutation_p.R117C|TUSC3_ENST00000382020.4_Missense_Mutation_p.R117C|TUSC3_ENST00000509380.1_Missense_Mutation_p.R117C|TUSC3_ENST00000503191.1_Intron	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	117	Thioredoxin.				cell redox homeostasis (GO:0045454)|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)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R117C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAACTCCTGGCGCTATTCATC	0.398																																						uc003wwt.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(349-351)CGC>TGC		tumor suppressor candidate 3 isoform a							232.0	225.0	228.0					8																	15508246		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15508246C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.349C>T	8.37:g.15508246C>T	ENSP00000424544:p.Arg117Cys					TUSC3_uc003wwr.2_Missense_Mutation_p.R117C|TUSC3_uc003wws.2_Missense_Mutation_p.R117C|TUSC3_uc003wwu.2_Missense_Mutation_p.R117C|TUSC3_uc003wwv.2_Missense_Mutation_p.R117C|TUSC3_uc003www.2_Missense_Mutation_p.R117C|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R117C	p.R117C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	3	559	+			117					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.349C>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219528	0.95139	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.6	5.6	0.85130	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.99;0.985;0.992;0.993;0.993;0.997	T	0.70033	-0.4983	10	0.44086	T	0.13	-12.7594	18.9923	0.92798	0.0:1.0:0.0:0.0	.	117;117;117;117;117;117	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	C	117	ENSP00000371450:R117C;ENSP00000425777:R117C;ENSP00000423426:R117C;ENSP00000424544:R117C	ENSP00000221167:R117C	R	+	1	0	TUSC3	15552617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.644000	0.67902	2.805000	0.96524	0.655000	0.94253	CGC		0.398	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
MSR1	4481	broad.mit.edu	37	8	16021625	16021625	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:16021625G>C	ENST00000262101.5	-	5	887	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V	MSR1_ENST00000355282.2_Missense_Mutation_p.L256V|MSR1_ENST00000445506.2_Missense_Mutation_p.L274V|MSR1_ENST00000350896.3_Missense_Mutation_p.L256V|MSR1_ENST00000536385.1_Missense_Mutation_p.L30V|MSR1_ENST00000381998.4_Missense_Mutation_p.L256V			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	256					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAATCTTTCAGTCTGAGATCA	0.308																																						uc003wwz.2																			0				ovary(1)	1						c.(766-768)CTG>GTG		macrophage scavenger receptor 1 isoform type 1							177.0	157.0	164.0					8																	16021625		2203	4299	6502	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16021625G>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.766C>G	8.37:g.16021625G>C	ENSP00000262101:p.Leu256Val					MSR1_uc010lsu.2_Missense_Mutation_p.L274V|MSR1_uc003wxa.2_Missense_Mutation_p.L256V|MSR1_uc003wxb.2_Missense_Mutation_p.L256V|MSR1_uc011kxz.1_Missense_Mutation_p.L30V	p.L256V	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	5	964	-			256			Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.766C>G	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008309	0.54361	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.76;-2.96;-2.91	4.9	3.1	0.35709	Macrophage scavenger receptor (1);	0.000000	0.44483	D	0.000447	D	0.94499	0.8229	M	0.78637	2.42	0.31969	N	0.607459	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999	D;D;D;D;D	0.83275	0.996;0.991;0.996;0.996;0.991	D	0.92736	0.6204	10	0.87932	D	0	.	5.7202	0.17982	0.2933:0.0:0.7067:0.0	.	30;274;256;256;256	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	V	256;256;274;256;46;256;30	ENSP00000262100:L256V;ENSP00000262101:L256V;ENSP00000405453:L274V;ENSP00000347430:L256V;ENSP00000430536:L46V;ENSP00000371428:L256V;ENSP00000444414:L30V	ENSP00000262101:L256V	L	-	1	2	MSR1	16065996	0.998000	0.40836	0.998000	0.56505	0.851000	0.48451	0.903000	0.28475	1.386000	0.46466	0.655000	0.94253	CTG		0.308	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		
EFCAB1	79645	broad.mit.edu	37	8	49643175	49643175	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:49643175A>G	ENST00000262103.3	-	3	323	c.243T>C	c.(241-243)gaT>gaC	p.D81D	EFCAB1_ENST00000523092.1_Silent_p.D29D|EFCAB1_ENST00000433756.1_Silent_p.D29D|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	81	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTACACAGCCATCATTATCTT	0.368																																						uc003xqo.2																			0					0						c.(241-243)GAT>GAC		EF-hand calcium binding domain 1 isoform a							116.0	105.0	109.0					8																	49643175		2203	4300	6503	SO:0001819	synonymous_variant	79645						calcium ion binding	g.chr8:49643175A>G		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.243T>C	8.37:g.49643175A>G						EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	p.D81D	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN			3	403	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	81			EF-hand 1.|1 (Potential).		B4DSB4|E7EVN7	Silent	SNP	ENST00000262103.3	37	c.243T>C	CCDS6145.1																																																																																				0.368	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593	
COLEC10	10584	broad.mit.edu	37	8	120118082	120118082	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:120118082C>T	ENST00000332843.2	+	6	527	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	162	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TCTACTACATCGTGCAGGAAG	0.458																																						uc003yoo.2																			0				ovary(2)|skin(1)	3						c.(484-486)ATC>ATT		collectin sub-family member 10 precursor							72.0	56.0	61.0					8																	120118082		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120118082C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.486C>T	8.37:g.120118082C>T							p.I162I	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		6	583	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		162			C-type lectin.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.486C>T	CCDS6327.1																																																																																				0.458	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		
CYP11B1	1584	broad.mit.edu	37	8	143956451	143956451	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:143956451G>A	ENST00000292427.4	-	8	1352	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	CYP11B1_ENST00000377675.3_Silent_p.H511H|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	440					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAGGGCACGTGGTAGAAGT	0.652									Familial Hyperaldosteronism type I																													uc003yxi.2																			0				ovary(3)	3						c.(1318-1320)CAC>CAT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						76.0	85.0	82.0					8																	143956451		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956451G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1320C>T	8.37:g.143956451G>A						CYP11B1_uc010mex.2_Silent_p.H139H|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Silent_p.H511H	p.H440H	NM_000497	NP_000488	P15538	C11B1_HUMAN			8	1327	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		440					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.1320C>T	CCDS6392.1																																																																																				0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
TAF1L	138474	broad.mit.edu	37	9	32633905	32633905	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:32633905C>A	ENST00000242310.4	-	1	1762	c.1673G>T	c.(1672-1674)cGa>cTa	p.R558L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	558					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAAGAGAATTCGACTCTTCTT	0.458																																						uc003zrg.1																			0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1672-1674)CGA>CTA		TBP-associated factor RNA polymerase 1-like							226.0	230.0	228.0					9																	32633905		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633905C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1673G>T	9.37:g.32633905C>A	ENSP00000418379:p.Arg558Leu					uc003zrh.1_RNA	p.R558L	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1763	-			558					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1673G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551766	0.65311	.	.	ENSG00000122728	ENST00000242310	T	0.09073	3.02	1.16	-0.372	0.12520	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.40543	1.245	0.46376	D	0.999013	B	0.27286	0.174	B	0.24155	0.051	T	0.28870	-1.0030	10	0.87932	D	0	.	5.649	0.17606	0.0:0.7546:0.0:0.2454	.	558	Q8IZX4	TAF1L_HUMAN	L	558	ENSP00000418379:R558L	ENSP00000418379:R558L	R	-	2	0	TAF1L	32623905	1.000000	0.71417	0.985000	0.45067	0.580000	0.36256	3.548000	0.53670	-0.347000	0.08299	0.195000	0.17529	CGA		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
NOL6	65083	broad.mit.edu	37	9	33465223	33465223	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:33465223T>C	ENST00000379471.2	-	20	2750	c.2663A>G	c.(2662-2664)gAg>gGg	p.E888G	NOL6_ENST00000455041.2_Missense_Mutation_p.E836G|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	888					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTGAAGGGCTCAGGGTGCAG	0.602																																						uc003zsz.2																			0				ovary(2)	2						c.(2662-2664)GAG>GGG		nucleolar protein family 6 alpha isoform							31.0	24.0	26.0					9																	33465223		2202	4297	6499	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33465223T>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2663A>G	9.37:g.33465223T>C	ENSP00000368784:p.Glu888Gly					SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.E885G|NOL6_uc011lob.1_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G	p.E888G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	20	2764	-			888					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2663A>G		.	.	.	.	.	.	.	.	.	.	T	16.25	3.070754	0.55539	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.43294	0.95;0.95;0.95	5.55	3.04	0.35103	.	0.158829	0.56097	D	0.000033	T	0.31263	0.0791	L	0.52573	1.65	0.40897	D	0.984124	B;B;B;B	0.21071	0.03;0.051;0.024;0.03	B;B;B;B	0.17433	0.018;0.015;0.01;0.018	T	0.11916	-1.0568	10	0.22706	T	0.39	.	6.8241	0.23872	0.1139:0.0:0.4135:0.4726	.	836;885;888;888	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	G	888;888;444;888;836	ENSP00000297990:E888G;ENSP00000368784:E888G;ENSP00000395915:E836G	ENSP00000297990:E888G	E	-	2	0	NOL6	33455223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.671000	0.68095	2.119000	0.64992	0.379000	0.24179	GAG		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	
TRPM3	80036	broad.mit.edu	37	9	73167906	73167906	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:73167906C>T	ENST00000377111.2	-	23	3635	c.3392G>A	c.(3391-3393)aGg>aAg	p.R1131K	TRPM3_ENST00000377106.1_Missense_Mutation_p.R1003K|TRPM3_ENST00000396285.1_Missense_Mutation_p.R990K|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1135K|TRPM3_ENST00000396280.5_Missense_Mutation_p.R980K|TRPM3_ENST00000358082.3_Missense_Mutation_p.R993K|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1158K|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1003K|TRPM3_ENST00000377110.3_Missense_Mutation_p.R1131K|TRPM3_ENST00000377105.1_Missense_Mutation_p.R990K|TRPM3_ENST00000360823.2_Missense_Mutation_p.R993K|TRPM3_ENST00000408909.2_Missense_Mutation_p.R990K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1156					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGCTGATACCTCTGAAACTT	0.423																																						uc004aid.2																			0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3391-3393)AGG>AAG		transient receptor potential cation channel,							131.0	134.0	133.0					9																	73167906		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73167906C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3392G>A	9.37:g.73167906C>T	ENSP00000366315:p.Arg1131Lys					TRPM3_uc004ahu.2_Missense_Mutation_p.R973K|TRPM3_uc004ahv.2_Missense_Mutation_p.R933K|TRPM3_uc004ahw.2_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.2_Missense_Mutation_p.R990K|TRPM3_uc004ahy.2_Missense_Mutation_p.R993K|TRPM3_uc004ahz.2_Missense_Mutation_p.R980K|TRPM3_uc004aia.2_Missense_Mutation_p.R978K|TRPM3_uc004aib.2_Missense_Mutation_p.R968K|TRPM3_uc004aic.2_Missense_Mutation_p.R1131K	p.R1131K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			23	3636	-			1156			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3392G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.303694	0.95601	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.87971	2.92	0.46654	D	0.999146	D;D;D;D;D;D;D;D	0.89917	0.993;0.999;0.996;0.989;0.989;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.961;0.976;0.995;0.915;0.915;0.995;0.994;0.997	D	0.85183	0.1005	10	0.87932	D	0	-23.9628	20.063	0.97692	0.0:1.0:0.0:0.0	.	1131;1131;1121;1135;993;990;1103;990	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	K	1131;1131;1003;993;990;1135;990;990;1003;993;1158	ENSP00000366315:R1131K;ENSP00000366314:R1131K;ENSP00000366310:R1003K;ENSP00000354066:R993K;ENSP00000366309:R990K;ENSP00000350140:R1135K;ENSP00000386127:R990K;ENSP00000379581:R990K;ENSP00000379587:R1003K;ENSP00000350791:R993K;ENSP00000389542:R1158K	ENSP00000350140:R1135K	R	-	2	0	TRPM3	72357726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.741000	0.93983	0.650000	0.86243	AGG		0.423	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
IKBKAP	8518	broad.mit.edu	37	9	111658909	111658909	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:111658909T>A	ENST00000374647.5	-	25	2910	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D519V	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	868					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCATCAGGATCAGAGGGAGC	0.368																																						uc004bdm.3																			0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(2602-2604)GAT>GTT		inhibitor of kappa light polypeptide gene							90.0	83.0	85.0					9																	111658909		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111658909T>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2603A>T	9.37:g.111658909T>A	ENSP00000363779:p.Asp868Val					IKBKAP_uc004bdl.2_Missense_Mutation_p.D519V|IKBKAP_uc011lwc.1_Missense_Mutation_p.D754V|IKBKAP_uc010mtq.2_Missense_Mutation_p.D519V	p.D868V	NM_003640	NP_003631	O95163	ELP1_HUMAN			25	3123	-			868					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2603A>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	5.756	0.323832	0.10900	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.29655	1.95;1.56	5.52	-4.5	0.03493	.	0.988064	0.08265	N	0.972402	T	0.11537	0.0281	N	0.12182	0.205	0.21473	N	0.999679	B	0.02656	0.0	B	0.04013	0.001	T	0.27468	-1.0073	10	0.25106	T	0.35	-0.415	0.3565	0.00358	0.2368:0.2268:0.1596:0.3767	.	868	O95163	ELP1_HUMAN	V	868;519	ENSP00000363779:D868V;ENSP00000439367:D519V	ENSP00000363779:D868V	D	-	2	0	IKBKAP	110698730	0.000000	0.05858	0.137000	0.22149	0.460000	0.32559	-0.945000	0.03909	-0.550000	0.06183	-0.624000	0.04008	GAT		0.368	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		
SPTAN1	6709	broad.mit.edu	37	9	131371470	131371470	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:131371470G>C	ENST00000372731.4	+	36	4775	c.4665G>C	c.(4663-4665)caG>caC	p.Q1555H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1555H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1555H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1555					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCTCCAACAGTTCAGCCGGG	0.473																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			0				breast(5)|ovary(4)|pancreas(1)	10						c.(4663-4665)CAG>CAC		spectrin, alpha, non-erythrocytic 1							118.0	111.0	114.0					9																	131371470		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371470G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4665G>C	9.37:g.131371470G>C	ENSP00000361816:p.Gln1555His					SPTAN1_uc004bvm.3_Missense_Mutation_p.Q1555H|SPTAN1_uc004bvn.3_Missense_Mutation_p.Q1535H	p.Q1555H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			36	4778	+			1555			Spectrin 17.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4665G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587180	0.66105	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55413	0.52;0.52;0.52	5.65	3.81	0.43845	.	0.128782	0.56097	D	0.000027	T	0.68778	0.3038	M	0.72576	2.205	0.80722	D	1	D;D;D	0.76494	0.999;0.965;0.971	D;P;P	0.76071	0.987;0.466;0.601	T	0.72371	-0.4314	10	0.87932	D	0	.	11.5544	0.50739	0.1431:0.0:0.8569:0.0	.	1535;1555;1555	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	1555;1555;1555;1535	ENSP00000350882:Q1555H;ENSP00000361816:Q1555H;ENSP00000361824:Q1555H	ENSP00000350882:Q1555H	Q	+	3	2	SPTAN1	130411291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.900000	0.56295	1.386000	0.46466	0.655000	0.94253	CAG		0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
LHX3	8022	broad.mit.edu	37	9	139092592	139092592	+	Silent	SNP	C	C	T	rs183980824		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:139092592C>T	ENST00000371748.5	-	2	183	c.87G>A	c.(85-87)ccG>ccA	p.P29P	LHX3_ENST00000371746.3_Silent_p.P34P	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	29					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CAGCGCACAGCGGGATCTCTG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19257	0.0		0.001	False		,,,				2504	0.0					uc004cha.2																			0				skin(1)	1						c.(85-87)CCG>CCA		LIM homeobox protein 3 isoform a		C	,	0,4404		0,0,2202	63.0	62.0	62.0		102,87	-5.4	1.0	9		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LHX3	NM_014564.3,NM_178138.4	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	34/403,29/398	139092592	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139092592C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.87G>A	9.37:g.139092592C>T						LHX3_uc004cgz.2_Silent_p.P34P	p.P29P	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	2	184	-		Myeloproliferative disorder(178;0.0511)	29					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	ENST00000371748.5	37	c.87G>A	CCDS6994.1																																																																																				0.632	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3		
PCYT1B	9468	broad.mit.edu	37	X	24580418	24580418	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:24580418C>G	ENST00000379144.2	-	8	1232	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	PCYT1B_ENST00000356768.4_Intron|PCYT1B_ENST00000379145.1_Missense_Mutation_p.E350Q	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	368					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTCTACTTTTCATCCTCATCC	0.577																																						uc004dbi.2																			0					0						c.(1102-1104)GAA>CAA		choline phosphate cytidylyltransferase 1 beta	Choline(DB00122)						42.0	32.0	36.0					X																	24580418		2203	4298	6501	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24580418C>G	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.1102G>C	X.37:g.24580418C>G	ENSP00000368439:p.Glu368Gln					PCYT1B_uc004dbk.3_Intron|PCYT1B_uc004dbj.2_Missense_Mutation_p.E350Q	p.E368Q	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN			8	1335	-			368					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	c.1102G>C	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392163	0.83011	.	.	ENSG00000102230	ENST00000379145;ENST00000379144	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	L	0.44542	1.39	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.60789	0.833;0.879	T	0.74179	-0.3749	9	0.72032	D	0.01	-30.2285	19.163	0.93543	0.0:1.0:0.0:0.0	.	350;368	E9PD84;Q9Y5K3	.;PCY1B_HUMAN	Q	350;368	.	ENSP00000368439:E368Q	E	-	1	0	PCYT1B	24490339	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.167000	0.77562	2.476000	0.83614	0.544000	0.68410	GAA		0.577	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
DMD	1756	broad.mit.edu	37	X	32563337	32563337	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:32563337G>T	ENST00000357033.4	-	17	2313	c.2107C>A	c.(2107-2109)Ctt>Att	p.L703I	DMD_ENST00000378677.2_Missense_Mutation_p.L699I|DMD_ENST00000288447.4_Missense_Mutation_p.L695I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	703					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTGGTGGAAGTTCCTCTTGA	0.448																																						uc004dda.1																			0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2107-2109)CTT>ATT		dystrophin Dp427m isoform							274.0	197.0	223.0					X																	32563337		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32563337G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2107C>A	X.37:g.32563337G>T	ENSP00000354923:p.Leu703Ile					DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L695I	p.L703I	NM_004006	NP_003997	P11532	DMD_HUMAN			17	2351	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	703					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2107C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389040	0.42308	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.73363	-0.03;-0.04;-0.74	5.64	2.88	0.33553	.	0.240677	0.20557	U	0.089992	T	0.70509	0.3232	M	0.68952	2.095	0.21652	N	0.999609	B;B;P;B	0.45986	0.104;0.03;0.87;0.018	B;B;B;B	0.42555	0.035;0.02;0.391;0.009	T	0.61978	-0.6951	10	0.52906	T	0.07	.	8.2752	0.31868	0.145:0.1262:0.7287:0.0	.	695;695;703;699	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	695;699;703;703;580;695	ENSP00000367948:L699I;ENSP00000354923:L703I;ENSP00000288447:L695I	ENSP00000288447:L695I	L	-	1	0	DMD	32473258	1.000000	0.71417	0.927000	0.36925	0.996000	0.88848	2.786000	0.47790	0.170000	0.19704	0.506000	0.49869	CTT		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
CXorf22	170063	broad.mit.edu	37	X	35989828	35989828	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:35989828C>T	ENST00000297866.5	+	12	2162	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	699										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAATTAGAGCGAATCGATTG	0.448																																						uc004ddj.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2095-2097)GCG>GTG		hypothetical protein LOC170063							51.0	45.0	47.0					X																	35989828		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989828C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2096C>T	X.37:g.35989828C>T	ENSP00000297866:p.Ala699Val					CXorf22_uc010ngv.2_RNA	p.A699V	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			12	2155	+			699					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2096C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519233	0.27211	.	.	ENSG00000165164	ENST00000297866	T	0.15017	2.46	5.72	-4.71	0.03279	.	1.352200	0.04497	N	0.380495	T	0.11324	0.0276	L	0.44542	1.39	0.09310	N	1	B	0.21753	0.06	B	0.10450	0.005	T	0.29941	-0.9995	10	0.13853	T	0.58	1.8838	4.1328	0.10158	0.4426:0.148:0.3308:0.0785	.	699	Q6ZTR5	CX022_HUMAN	V	699	ENSP00000297866:A699V	ENSP00000297866:A699V	A	+	2	0	CXorf22	35899749	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.764000	0.04735	-0.798000	0.04444	0.600000	0.82982	GCG		0.448	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
THOC2	57187	broad.mit.edu	37	X	122799597	122799597	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:122799597T>C	ENST00000245838.8	-	12	1313	c.1282A>G	c.(1282-1284)Agg>Ggg	p.R428G	THOC2_ENST00000491737.1_Missense_Mutation_p.R313G|THOC2_ENST00000355725.4_Missense_Mutation_p.R428G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	428					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACGTCTCTCCTCAAATCTTCA	0.403																																						uc004etu.2																			0				ovary(3)	3						c.(1282-1284)AGG>GGG		THO complex 2							176.0	165.0	169.0					X																	122799597		1871	4093	5964	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122799597T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1282A>G	X.37:g.122799597T>C	ENSP00000245838:p.Arg428Gly					THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G	p.R428G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			12	1314	-			428					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1282A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873952	0.51695	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.7	5.7	0.88788	.	0.069441	0.64402	D	0.000017	T	0.60143	0.2246	M	0.68317	2.08	0.58432	D	0.999993	B;B	0.25521	0.02;0.128	B;B	0.21546	0.016;0.035	T	0.56896	-0.7903	9	0.23891	T	0.37	-12.4951	14.9132	0.70773	0.0:0.0:0.0:1.0	.	349;428	B4DKZ6;Q8NI27	.;THOC2_HUMAN	G	428;428;313;349	.	ENSP00000245838:R428G	R	-	1	2	THOC2	122627278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.372000	0.52387	1.904000	0.55121	0.486000	0.48141	AGG		0.403	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
