#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SDF4	51150	broad.mit.edu	37	1	1153991	1153991	+	Silent	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:1153991G>A	ENST00000360001.6	-	6	1021	c.759C>T	c.(757-759)ctC>ctT	p.L253L	SDF4_ENST00000263741.7_Silent_p.L253L			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	253	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.L253L(2)|p.L214F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGGGCACAGAGAGCTGCTTGT	0.632																																						uc001adh.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(757-759)CTC>CTT		stromal cell derived factor 4 isoform 2							94.0	99.0	97.0					1																	1153991		2203	4300	6503	SO:0001819	synonymous_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1153991G>A		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.759C>T	1.37:g.1153991G>A						SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Silent_p.L253L|SDF4_uc009vjv.2_Silent_p.L131L|SDF4_uc009vjw.2_RNA	p.L253L	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	6	1088	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	253			4 (Potential).|EF-hand 4.		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.759C>T	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273913	0.01421	.	.	ENSG00000078808	ENST00000403997	T	0.14266	2.52	4.55	-5.89	0.02282	.	0.069074	0.56097	N	0.000037	T	0.17238	0.0414	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08472	-1.0720	7	0.72032	D	0.01	-30.0135	6.7567	0.23518	0.1819:0.5415:0.1873:0.0893	.	.	.	.	F	214	ENSP00000384207:L214F	ENSP00000384207:L214F	L	-	1	0	SDF4	1143854	0.599000	0.26891	0.183000	0.23137	0.002000	0.02628	-0.281000	0.08456	-1.065000	0.03168	-2.270000	0.00275	CTC		PASS	0.632	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		17	65	17	65	---	---	---	---
PGD	5226	broad.mit.edu	37	1	10477566	10477566	+	Splice_Site	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:10477566G>C	ENST00000270776.8	+	10	1147	c.1109G>C	c.(1108-1110)aGt>aCt	p.S370T	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Splice_Site_p.S348T|PGD_ENST00000538557.1_Splice_Site_p.S357T	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	370					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.S370T(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	ATCATTAGAAGGTAAGTGAGA	0.562																																						uc001arc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1108-1110)AGT>ACT		phosphogluconate dehydrogenase							64.0	60.0	61.0					1																	10477566		2203	4300	6503	SO:0001630	splice_region_variant	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10477566G>C	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1109+1G>C	1.37:g.10477566G>C						PGD_uc001ard.2_Missense_Mutation_p.S290T|PGD_uc010oak.1_Missense_Mutation_p.S348T|PGD_uc010oal.1_Missense_Mutation_p.S357T	p.S370T	NM_002631	NP_002622	P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	10	1199	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	370					A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	c.1109G>C	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814287	0.90790	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.51817	0.69;0.69;0.69	4.79	4.79	0.61399	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	H	0.97587	4.035	0.80722	D	1	D;P;P	0.76494	0.999;0.826;0.826	D;D;D	0.83275	0.996;0.944;0.944	D	0.88305	0.2952	10	0.87932	D	0	-22.1635	18.222	0.89904	0.0:0.0:1.0:0.0	.	348;370;370	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	T	348;316;370;357	ENSP00000442285:S348T;ENSP00000270776:S370T;ENSP00000437822:S357T	ENSP00000270776:S370T	S	+	2	0	PGD	10400153	1.000000	0.71417	0.996000	0.52242	0.828000	0.46876	9.629000	0.98417	2.361000	0.80049	0.650000	0.86243	AGT		PASS	0.562	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631	Missense_Mutation	29	102	29	102	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26883509	26883509	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:26883509C>G	ENST00000374168.2	+	13	1156	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.I343M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.I242M|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.I323M|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.I242M|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.I318M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	334	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.I343M(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTCGTGAGATCAAGCCACCCT	0.587																																						uc001bmr.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1000-1002)ATC>ATG		ribosomal protein S6 kinase, 90kDa, polypeptide							227.0	160.0	183.0					1																	26883509		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26883509C>G	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1002C>G	1.37:g.26883509C>G	ENSP00000363283:p.Ile334Met					RPS6KA1_uc010ofe.1_Missense_Mutation_p.I242M|RPS6KA1_uc010off.1_Missense_Mutation_p.I318M|RPS6KA1_uc001bms.1_Missense_Mutation_p.I343M|RPS6KA1_uc009vsl.1_Missense_Mutation_p.I177M	p.I334M	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	13	1165	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	334			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1002C>G	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385388	0.42308	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.49	5.49	0.81192	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.155562	0.56097	D	0.000026	T	0.57213	0.2038	M	0.86028	2.79	0.58432	D	0.999995	B;B;B	0.34313	0.007;0.448;0.008	B;B;B	0.30105	0.035;0.111;0.002	T	0.64011	-0.6507	10	0.59425	D	0.04	.	14.9168	0.70805	0.0:0.8571:0.1429:0.0	.	318;343;334	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	M	334;323;242;242;318;54;343	ENSP00000363283:I334M;ENSP00000363281:I323M;ENSP00000431651:I242M;ENSP00000363277:I242M;ENSP00000432281:I318M;ENSP00000435412:I343M	ENSP00000363277:I242M	I	+	3	3	RPS6KA1	26756096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.759000	0.38420	2.590000	0.87494	0.655000	0.94253	ATC		PASS	0.587	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		30	108	30	108	---	---	---	---
HDAC1	3065	broad.mit.edu	37	1	32797376	32797376	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:32797376G>C	ENST00000373548.3	+	11	1272	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.E203D	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	396					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E396D(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GTGGCGATGAGGACGAAGACG	0.567																																						uc001bvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1186-1188)GAG>GAC		histone deacetylase 1	Vorinostat(DB02546)						96.0	91.0	92.0					1																	32797376		2203	4300	6503	SO:0001583	missense	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32797376G>C	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1188G>C	1.37:g.32797376G>C	ENSP00000362649:p.Glu396Asp					HDAC1_uc010ohf.1_Missense_Mutation_p.E367D|HDAC1_uc001bvc.1_Missense_Mutation_p.E152D	p.E396D	NM_004964	NP_004955	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	11	1251	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	396	Missing: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes.				Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	c.1188G>C	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470370	0.26423	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.75260	-0.92;-0.62	4.52	-0.865	0.10662	.	0.047131	0.85682	D	0.000000	T	0.69006	0.3063	M	0.70903	2.155	0.46927	D	0.999254	B	0.33238	0.403	B	0.39935	0.314	T	0.58053	-0.7704	10	0.33141	T	0.24	-16.3999	5.3854	0.16215	0.4798:0.0:0.3881:0.1321	.	396	Q13547	HDAC1_HUMAN	D	396;203	ENSP00000362649:E396D;ENSP00000362642:E203D	ENSP00000362642:E203D	E	+	3	2	HDAC1	32569963	1.000000	0.71417	0.997000	0.53966	0.363000	0.29612	0.688000	0.25422	-0.039000	0.13602	-0.244000	0.11960	GAG		PASS	0.567	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		39	131	39	131	---	---	---	---
KTI12	112970	broad.mit.edu	37	1	52498835	52498835	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:52498835G>A	ENST00000371614.1	-	1	653	c.599C>T	c.(598-600)tCc>tTc	p.S200F	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	200							ATP binding (GO:0005524)	p.S200F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AAAGGCACCGGACCCATGCTT	0.577																																						uc001ctj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(598-600)TCC>TTC		KTI12 homolog, chromatin associated							52.0	58.0	56.0					1																	52498835		2203	4300	6503	SO:0001583	missense	112970						ATP binding	g.chr1:52498835G>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.599C>T	1.37:g.52498835G>A	ENSP00000360676:p.Ser200Phe					TXNDC12_uc001cti.2_Intron	p.S200F	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			1	638	-			200						Missense_Mutation	SNP	ENST00000371614.1	37	c.599C>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869228	0.32977	.	.	ENSG00000198841	ENST00000371614	T	0.47869	0.83	4.5	2.63	0.31362	.	17.718600	0.01556	U	0.019895	T	0.59197	0.2176	L	0.56769	1.78	0.09310	N	1	P	0.43885	0.82	P	0.52267	0.694	T	0.30090	-0.9990	10	0.56958	D	0.05	.	6.9242	0.24405	0.1938:0.0:0.8062:0.0	.	200	Q96EK9	KTI12_HUMAN	F	200	ENSP00000360676:S200F	ENSP00000360676:S200F	S	-	2	0	KTI12	52271423	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.281000	0.18810	0.525000	0.28522	0.557000	0.71058	TCC		PASS	0.577	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		42	118	42	118	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52828391	52828391	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:52828391C>G	ENST00000371586.2	-	3	235	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'Flank|CC2D1B_ENST00000284376.3_Missense_Mutation_p.E33Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	33						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E33Q(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AGCATGTCCTCAGGGCCAAAC	0.572																																						uc001ctq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(97-99)GAG>CAG		coiled-coil and C2 domain containing 1B							135.0	135.0	135.0					1																	52828391		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52828391C>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.97G>C	1.37:g.52828391C>G	ENSP00000360642:p.Glu33Gln					CC2D1B_uc001cts.2_5'Flank	p.E33Q	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			3	235	-			33					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.97G>C	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635568	0.87760	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371575	T;T	0.24723	1.84;1.84	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	M	0.61703	1.905	0.80722	D	1	D	0.56746	0.977	P	0.52710	0.707	T	0.24297	-1.0164	10	0.59425	D	0.04	-15.0067	14.8163	0.70036	0.0:1.0:0.0:0.0	.	33	Q5T0F9	C2D1B_HUMAN	Q	33	ENSP00000360642:E33Q;ENSP00000284376:E33Q	ENSP00000284376:E33Q	E	-	1	0	CC2D1B	52600979	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.136000	0.71703	2.505000	0.84491	0.655000	0.94253	GAG		PASS	0.572	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		53	165	53	165	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153654196	153654196	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:153654196C>A	ENST00000368680.3	+	4	1524	c.1052C>A	c.(1051-1053)gCa>gAa	p.A351E	NPR1_ENST00000413826.1_3'UTR	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	351					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.A351E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACCATCCCAGCATCCTTCCAC	0.582																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(1051-1053)GCA>GAA		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						83.0	73.0	77.0					1																	153654196		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153654196C>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1052C>A	1.37:g.153654196C>A	ENSP00000357669:p.Ala351Glu					NPR1_uc010pdz.1_Missense_Mutation_p.A97E	p.A351E	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	1473	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		351			Extracellular (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1052C>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294855	0.81025	.	.	ENSG00000169418	ENST00000368680	D	0.84730	-1.89	5.38	5.38	0.77491	Extracellular ligand-binding receptor (1);	0.078814	0.51477	D	0.000088	D	0.84606	0.5509	N	0.25060	0.705	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.86246	0.1646	10	0.56958	D	0.05	.	16.6795	0.85288	0.0:1.0:0.0:0.0	.	351	P16066	ANPRA_HUMAN	E	351	ENSP00000357669:A351E	ENSP00000357669:A351E	A	+	2	0	NPR1	151920820	0.815000	0.29118	0.967000	0.41034	0.804000	0.45430	1.235000	0.32671	2.813000	0.96785	0.655000	0.94253	GCA		PASS	0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		51	79	51	79	---	---	---	---
NUF2	83540	broad.mit.edu	37	1	163295920	163295920	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:163295920G>A	ENST00000271452.3	+	2	358	c.79G>A	c.(79-81)Gat>Aat	p.D27N	NUF2_ENST00000524800.1_Missense_Mutation_p.D27N|NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Missense_Mutation_p.D27N	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	27	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.D27N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AACAGGAGCTGATGGTAAAAA	0.358																																						uc001gcq.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(79-81)GAT>AAT		NUF2, NDC80 kinetochore complex component							119.0	120.0	120.0					1																	163295920		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163295920G>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.79G>A	1.37:g.163295920G>A	ENSP00000271452:p.Asp27Asn					NUF2_uc001gcp.2_Missense_Mutation_p.D27N|NUF2_uc001gcr.1_Missense_Mutation_p.D27N|NUF2_uc009wvc.1_Missense_Mutation_p.D27N	p.D27N	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			2	379	+	all_hematologic(923;0.101)		27			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.79G>A	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870843	0.72065	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	T;T;T	0.34072	1.43;1.38;1.38	5.68	5.68	0.88126	.	0.045388	0.85682	D	0.000000	T	0.46249	0.1383	L	0.53249	1.67	0.31543	N	0.659691	B;B;D	0.76494	0.276;0.276;0.999	B;B;D	0.71414	0.1;0.1;0.973	T	0.10870	-1.0611	9	0.32370	T	0.25	-28.5524	17.1031	0.86655	0.0:0.0:1.0:0.0	.	27;27;27	E9PQC4;Q9BZD4;B1AQT4	.;NUF2_HUMAN;.	N	27	ENSP00000436888:D27N;ENSP00000356875:D27N;ENSP00000271452:D27N	ENSP00000271452:D27N	D	+	1	0	NUF2	161562544	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.992000	0.63889	2.861000	0.98227	0.650000	0.86243	GAT		PASS	0.358	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		122	163	122	163	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179090794	179090794	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:179090794T>C	ENST00000502732.1	-	5	1099	c.896A>G	c.(895-897)tAt>tGt	p.Y299C	ABL2_ENST00000512653.1_Missense_Mutation_p.Y284C|ABL2_ENST00000507173.1_Missense_Mutation_p.Y278C|ABL2_ENST00000344730.3_Missense_Mutation_p.Y284C|ABL2_ENST00000511413.1_Missense_Mutation_p.Y299C|ABL2_ENST00000392043.3_Missense_Mutation_p.Y278C|ABL2_ENST00000408940.3_Missense_Mutation_p.Y263C|ABL2_ENST00000367623.4_Missense_Mutation_p.Y278C|ABL2_ENST00000504405.1_Missense_Mutation_p.Y263C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.Y284C(1)|p.Y263C(1)|p.Y299C(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AACCTCTCCATACTGACCGCC	0.453			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		3	Substitution - Missense(3)		lung(3)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(895-897)TAT>TGT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						195.0	167.0	176.0					1																	179090794		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090794T>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.896A>G	1.37:g.179090794T>C	ENSP00000427562:p.Tyr299Cys					ABL2_uc010pnf.1_Missense_Mutation_p.Y299C|ABL2_uc010png.1_Missense_Mutation_p.Y278C|ABL2_uc010pnh.1_Missense_Mutation_p.Y278C|ABL2_uc009wxe.2_Missense_Mutation_p.Y278C|ABL2_uc001gmg.3_Missense_Mutation_p.Y284C|ABL2_uc001gmi.3_Missense_Mutation_p.Y284C|ABL2_uc001gmh.3_Missense_Mutation_p.Y263C|ABL2_uc010pne.1_Missense_Mutation_p.Y263C|ABL2_uc009wxf.1_Missense_Mutation_p.Y284C|ABL2_uc001gmk.2_Missense_Mutation_p.Y263C	p.Y299C	NM_007314	NP_009298	P42684	ABL2_HUMAN			5	1183	-			299			ATP (By similarity).|Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.896A>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140513	0.77775	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000225	D	0.87633	0.6226	L	0.43598	1.365	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.88921	0.3366	10	0.87932	D	0	.	14.2342	0.65913	0.0:0.0:0.0:1.0	.	278;278;299;263;263;278;263;299;284;263;284	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	C	299;263;284;284;263;278;278;299;278	ENSP00000427562:Y299C;ENSP00000386152:Y263C;ENSP00000339209:Y284C;ENSP00000423578:Y284C;ENSP00000426831:Y263C;ENSP00000356595:Y278C;ENSP00000423413:Y278C;ENSP00000424697:Y299C;ENSP00000375897:Y278C	ENSP00000339209:Y284C	Y	-	2	0	ABL2	177357417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.963000	0.87922	1.958000	0.56883	0.533000	0.62120	TAT		PASS	0.453	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		135	213	135	213	---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204092245	204092245	+	Silent	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:204092245C>T	ENST00000367204.1	+	11	1249	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	380					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L380L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTAGGACCTCATCAGCCTGG	0.612																																						uc001ham.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1138-1140)CTC>CTT		SRY-box 13							73.0	81.0	79.0					1																	204092245		2128	4235	6363	SO:0001819	synonymous_variant	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204092245C>T		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1140C>T	1.37:g.204092245C>T						SOX13_uc010pqp.1_Silent_p.L379L|SOX13_uc010pqq.1_Silent_p.L247L	p.L380L	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		11	1735	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		380					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Silent	SNP	ENST00000367204.1	37	c.1140C>T	CCDS44299.1																																																																																				PASS	0.612	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		56	104	56	104	---	---	---	---
C1orf74	148304	broad.mit.edu	37	1	209956220	209956220	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:209956220C>T	ENST00000294811.1	-	2	1016	c.760G>A	c.(760-762)Gat>Aat	p.D254N		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	254								p.D254N(2)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		ATGCTGAGATCAGCAAAGTCA	0.478																																						uc001hhp.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(760-762)GAT>AAT		hypothetical protein LOC148304							108.0	114.0	112.0					1																	209956220		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956220C>T	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.760G>A	1.37:g.209956220C>T	ENSP00000294811:p.Asp254Asn						p.D254N	NM_152485	NP_689698	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	1003	-			254						Missense_Mutation	SNP	ENST00000294811.1	37	c.760G>A	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856924	0.71834	.	.	ENSG00000162757	ENST00000294811	T	0.46451	0.87	5.75	4.83	0.62350	.	0.054702	0.64402	D	0.000001	T	0.44435	0.1293	L	0.53249	1.67	0.80722	D	1	D	0.55605	0.972	P	0.47075	0.536	T	0.29181	-1.0020	10	0.35671	T	0.21	-6.0487	14.1891	0.65625	0.0:0.9286:0.0:0.0714	.	254	Q96LT6	CA074_HUMAN	N	254	ENSP00000294811:D254N	ENSP00000294811:D254N	D	-	1	0	C1orf74	208022843	0.951000	0.32395	1.000000	0.80357	0.991000	0.79684	1.993000	0.40747	2.711000	0.92665	0.655000	0.94253	GAT		PASS	0.478	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		53	231	53	231	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263404	248263404	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr1:248263404C>T	ENST00000358120.2	+	2	872	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	OR2L13_ENST00000366478.2_Missense_Mutation_p.H243Y			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H243Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CATTTCAACACATTTAACTGT	0.453																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(727-729)CAT>TAT		olfactory receptor, family 2, subfamily L,							149.0	143.0	145.0					1																	248263404		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263404C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.727C>T	1.37:g.248263404C>T	ENSP00000350836:p.His243Tyr						p.H243Y	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1064	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		243			Helical; Name=6; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.727C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407026	0.42715	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00314	8.14;8.14	4.21	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.292022	0.24312	N	0.039627	T	0.00998	0.0033	H	0.96430	3.82	0.29301	N	0.868703	D	0.76494	0.999	D	0.85130	0.997	T	0.03139	-1.1068	10	0.87932	D	0	.	10.8169	0.46583	0.0:0.9046:0.0:0.0954	.	243	Q8N349	OR2LD_HUMAN	Y	243	ENSP00000355434:H243Y;ENSP00000350836:H243Y	ENSP00000350836:H243Y	H	+	1	0	OR2L13	246330027	1.000000	0.71417	0.793000	0.32043	0.017000	0.09413	5.871000	0.69628	0.957000	0.37930	0.650000	0.86243	CAT		PASS	0.453	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		83	144	83	144	---	---	---	---
APLF	200558	broad.mit.edu	37	2	68765102	68765102	+	Silent	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr2:68765102T>C	ENST00000303795.4	+	7	1074	c.903T>C	c.(901-903)ctT>ctC	p.L301L	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	301					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.L301L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGAGGAACTTGGTAAAGTTT	0.363																																						uc002sep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(901-903)CTT>CTC		aprataxin and PNKP like factor							66.0	65.0	65.0					2																	68765102		2203	4300	6503	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68765102T>C	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.903T>C	2.37:g.68765102T>C						APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Silent_p.L277L|APLF_uc002ser.1_Silent_p.L32L	p.L301L	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			7	1076	+			301					A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.903T>C	CCDS1888.1																																																																																				PASS	0.363	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		33	97	33	97	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116572478	116572478	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr2:116572478A>G	ENST00000410059.1	+	20	2290	c.1810A>G	c.(1810-1812)Agt>Ggt	p.S604G	DPP10_ENST00000393147.2_Missense_Mutation_p.S608G|DPP10_ENST00000310323.8_Missense_Mutation_p.S597G|DPP10_ENST00000409163.1_Missense_Mutation_p.S554G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	604						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.S597G(1)|p.S604G(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGGCAGAGGAAGTGGATTCCA	0.423																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1810-1812)AGT>GGT		dipeptidyl peptidase 10 isoform long							131.0	132.0	132.0					2																	116572478		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572478A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1810A>G	2.37:g.116572478A>G	ENSP00000386565:p.Ser604Gly					DPP10_uc002tlb.1_Missense_Mutation_p.S554G|DPP10_uc002tlc.1_Missense_Mutation_p.S600G|DPP10_uc002tle.2_Missense_Mutation_p.S608G|DPP10_uc002tlf.1_Missense_Mutation_p.S597G	p.S604G	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			20	2267	+			604			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1810A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052075	0.75960	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.88377	2.95	0.80722	D	1	P;B;P;P	0.50443	0.92;0.37;0.935;0.935	P;B;P;P	0.49999	0.494;0.138;0.552;0.628	T	0.61441	-0.7062	10	0.56958	D	0.05	-19.9042	14.3232	0.66502	1.0:0.0:0.0:0.0	.	597;608;600;604	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	G	604;554;608;597;554	ENSP00000386565:S604G;ENSP00000387038:S554G;ENSP00000376855:S608G;ENSP00000309066:S597G	ENSP00000309066:S597G	S	+	1	0	DPP10	116288948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.762000	0.74950	2.182000	0.69389	0.533000	0.62120	AGT		PASS	0.423	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		56	150	56	150	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155158078	155158078	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr2:155158078G>C	ENST00000392825.3	+	9	1699	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H	GALNT13_ENST00000409237.1_Missense_Mutation_p.D378H|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	378					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D378H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGAATTTAAAGATTTCTTCTA	0.363																																						uc002tyr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1132-1134)GAT>CAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							150.0	152.0	151.0					2																	155158078		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155158078G>C	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1132G>C	2.37:g.155158078G>C	ENSP00000376570:p.Asp378His					GALNT13_uc002tyt.3_Missense_Mutation_p.D378H|GALNT13_uc010foc.1_Missense_Mutation_p.D197H|GALNT13_uc010fod.2_Missense_Mutation_p.D131H	p.D378H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			9	1699	+			378			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1132G>C	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261880	0.39995	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.68765	-0.35;-0.35	5.44	4.57	0.56435	.	0.045897	0.85682	D	0.000000	T	0.60818	0.2298	L	0.58669	1.825	0.80722	D	1	B;B;B;B	0.12013	0.002;0.003;0.005;0.003	B;B;B;B	0.15052	0.012;0.004;0.004;0.004	T	0.59225	-0.7494	10	0.46703	T	0.11	.	9.9201	0.41459	0.1548:0.0:0.8452:0.0	.	378;378;378;378	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	H	378	ENSP00000376570:D378H;ENSP00000387239:D378H	ENSP00000376570:D378H	D	+	1	0	GALNT13	154866324	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.886000	0.63149	1.438000	0.47492	-0.140000	0.14226	GAT		PASS	0.363	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		68	220	68	220	---	---	---	---
METAP1D	254042	broad.mit.edu	37	2	172944926	172944926	+	Silent	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr2:172944926C>T	ENST00000315796.4	+	9	1308	c.921C>T	c.(919-921)gaC>gaT	p.D307D	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	307					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.D307D(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						tctccctagacaatcAAAGGT	0.498																																						uc002uhk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(919-921)GAC>GAT		methionine aminopeptidase 1D precursor							169.0	163.0	165.0					2																	172944926		2203	4300	6503	SO:0001819	synonymous_variant	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172944926C>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.921C>T	2.37:g.172944926C>T						MAP1D_uc010zdw.1_Silent_p.D189D	p.D307D	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	994	+			307					Q1WNX3	Silent	SNP	ENST00000315796.4	37	c.921C>T	CCDS2246.1																																																																																				PASS	0.498	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		59	179	59	179	---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160155865	160155865	+	Silent	SNP	T	T	C	rs543903709|rs557840155	byFrequency	TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr3:160155865T>C	ENST00000309784.4	-	3	1292	c.1107A>G	c.(1105-1107)ctA>ctG	p.L369L	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	369					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L369L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTAAACAGATAGAGAGGCTT	0.313																																						uc003fdm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1105-1107)CTA>CTG		tripartite motif-containing 59							57.0	59.0	58.0					3																	160155865		2203	4295	6498	SO:0001819	synonymous_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160155865T>C	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.1107A>G	3.37:g.160155865T>C						IFT80_uc003fda.2_Intron	p.L369L	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	1302	-			369					A8K5G9|D3DNL9	Silent	SNP	ENST00000309784.4	37	c.1107A>G	CCDS3190.1																																																																																				PASS	0.313	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		87	88	87	88	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56831872	56831872	+	Silent	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr4:56831872C>T	ENST00000257287.4	+	8	1015	c.891C>T	c.(889-891)acC>acT	p.T297T		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	297					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.T297T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTATGGAAACCAAGGAAACAG	0.353																																						uc003hbi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(889-891)ACC>ACT		centrosome protein 4							63.0	61.0	62.0					4																	56831872		2202	4300	6502	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56831872C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.891C>T	4.37:g.56831872C>T						CEP135_uc003hbj.2_Silent_p.T3T|CEP135_uc010igz.1_Silent_p.T127T	p.T297T	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			8	1125	+	Glioma(25;0.08)|all_neural(26;0.101)		297			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.891C>T	CCDS33986.1																																																																																				PASS	0.353	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		44	75	44	75	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123268789	123268789	+	Silent	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr4:123268789C>T	ENST00000264501.4	+	76	13357	c.12984C>T	c.(12982-12984)tcC>tcT	p.S4328S	KIAA1109_ENST00000388738.3_Silent_p.S4328S			Q2LD37	K1109_HUMAN	KIAA1109	4328					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4328S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTCAGCCTCCTTCACCCACA	0.498																																						uc003ieh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12982-12984)TCC>TCT		fragile site-associated protein							94.0	99.0	97.0					4																	123268789		2084	4213	6297	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123268789C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12984C>T	4.37:g.123268789C>T						KIAA1109_uc003iem.2_Silent_p.S684S	p.S4328S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			74	13029	+			4328					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.12984C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	8.847	0.943634	0.18281	.	.	ENSG00000138688	ENST00000306802	.	.	.	6.16	2.61	0.31194	.	.	.	.	.	T	0.53867	0.1823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41805	-0.9488	4	.	.	.	.	5.6596	0.17662	0.2024:0.5422:0.0:0.2553	.	.	.	.	L	704	.	.	P	+	2	0	KIAA1109	123488239	0.670000	0.27512	0.999000	0.59377	0.965000	0.64279	-0.437000	0.06914	0.190000	0.20209	-0.143000	0.13931	CCT		PASS	0.498	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		51	47	51	47	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14758688	14758688	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr5:14758688G>C	ENST00000284268.6	-	3	663	c.333C>G	c.(331-333)taC>taG	p.Y111*	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	111					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.Y111*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGATAATGTAGTATCCTAAAT	0.408																																						uc003jfm.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(331-333)TAC>TAG		progressive ankylosis protein							122.0	114.0	116.0					5																	14758688		2203	4300	6503	SO:0001587	stop_gained	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14758688G>C	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.333C>G	5.37:g.14758688G>C	ENSP00000284268:p.Tyr111*						p.Y111*	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			3	664	-			111			Extracellular (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Nonsense_Mutation	SNP	ENST00000284268.6	37	c.333C>G	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	G	40	7.953833	0.98580	.	.	ENSG00000154122	ENST00000284268	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0115	8.0702	0.30685	0.1716:0.0:0.8283:0.0	.	.	.	.	X	111	.	ENSP00000284268:Y111X	Y	-	3	2	ANKH	14811688	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.154000	0.58125	2.588000	0.87417	0.563000	0.77884	TAC		PASS	0.408	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		50	144	50	144	---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879971	27879971	+	Silent	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr6:27879971G>A	ENST00000303324.2	-	1	203	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L43L(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATTATTGTCAGATTGCCAAAG	0.393																																						uc011dkw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)CTG>TTG		olfactory receptor, family 2, subfamily B,							108.0	106.0	107.0					6																	27879971		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879971G>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.127C>T	6.37:g.27879971G>A							p.L43L	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	127	-			43			Helical; Name=1; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.127C>T	CCDS4641.1																																																																																				PASS	0.393	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			52	88	52	88	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51907784	51907784	+	Silent	SNP	A	A	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr6:51907784A>C	ENST00000371117.3	-	27	3245	c.2970T>G	c.(2968-2970)gtT>gtG	p.V990V	PKHD1_ENST00000340994.4_Silent_p.V990V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	990	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V990V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATGCATTCCAACAGGTAGCA	0.453																																						uc003pah.1																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2968-2970)GTT>GTG		fibrocystin isoform 1							124.0	117.0	119.0					6																	51907784		2203	4299	6502	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51907784A>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2970T>G	6.37:g.51907784A>C						PKHD1_uc003pai.2_Silent_p.V990V	p.V990V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			27	3246	-	Lung NSC(77;0.0605)		990			IPT/TIG 4.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.2970T>G	CCDS4935.1																																																																																				PASS	0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		77	141	77	141	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64394489	64394489	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr6:64394489C>T	ENST00000262043.3	+	4	1206	c.866C>T	c.(865-867)tCa>tTa	p.S289L	PHF3_ENST00000393387.1_Missense_Mutation_p.S289L|PHF3_ENST00000509330.1_Missense_Mutation_p.S289L			Q92576	PHF3_HUMAN	PHD finger protein 3	289					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S289L(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTAAGTTTTCAGATAAAGAA	0.343																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(865-867)TCA>TTA		PHD finger protein 3							84.0	88.0	86.0					6																	64394489		2203	4298	6501	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394489C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.866C>T	6.37:g.64394489C>T	ENSP00000262043:p.Ser289Leu					PHF3_uc010kaf.1_Missense_Mutation_p.S289L|PHF3_uc003pem.2_Missense_Mutation_p.S242L|PHF3_uc010kag.1_Missense_Mutation_p.S201L|PHF3_uc010kah.1_Missense_Mutation_p.S103L|PHF3_uc003pen.2_Missense_Mutation_p.S201L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.S289L	p.S289L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	892	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		289					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.866C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	6.910	0.537576	0.13188	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.46451	2.1;1.85;2.19;1.86;0.87;2.19	5.21	3.29	0.37713	.	0.273378	0.19678	N	0.108561	T	0.14227	0.0344	L	0.34521	1.04	0.22457	N	0.999087	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.15694	-1.0428	10	0.62326	D	0.03	-2.4409	7.8424	0.29406	0.0:0.7009:0.1379:0.1611	.	289;289	Q92576;D6R9X2	PHF3_HUMAN;.	L	103;201;289;242;289;289	ENSP00000424694:S103L;ENSP00000425227:S201L;ENSP00000262043:S289L;ENSP00000424078:S242L;ENSP00000422841:S289L;ENSP00000377048:S289L	ENSP00000262043:S289L	S	+	2	0	PHF3	64452448	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.536000	0.45693	1.424000	0.47217	0.650000	0.86243	TCA		PASS	0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			30	130	30	130	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69349286	69349286	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr6:69349286G>A	ENST00000370598.1	+	3	1540	c.719G>A	c.(718-720)tGc>tAc	p.C240Y		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	240					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C240Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACCCAAGTCTGCAATCTTACC	0.537																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(718-720)TGC>TAC		brain-specific angiogenesis inhibitor 3							22.0	22.0	22.0					6																	69349286		2201	4299	6500	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349286G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.719G>A	6.37:g.69349286G>A	ENSP00000359630:p.Cys240Tyr					BAI3_uc010kak.2_Missense_Mutation_p.C240Y	p.C240Y	NM_001704	NP_001695	O60242	BAI3_HUMAN			3	1167	+		all_lung(197;0.212)	240			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.719G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830056	0.91036	.	.	ENSG00000135298	ENST00000370598	T	0.20200	2.09	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.36672	1.1	0.80722	D	1	D	0.57571	0.98	D	0.69142	0.962	T	0.01294	-1.1393	10	0.42905	T	0.14	.	19.1668	0.93561	0.0:0.0:1.0:0.0	.	240	O60242	BAI3_HUMAN	Y	240	ENSP00000359630:C240Y	ENSP00000359630:C240Y	C	+	2	0	BAI3	69406007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.599000	0.87857	0.563000	0.77884	TGC		PASS	0.537	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			20	37	20	37	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76633407	76633407	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr6:76633407C>T	ENST00000369950.3	-	16	2449	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.E754K(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCTTGATTTTCAGAGTGATCT	0.299																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2260-2262)GAA>AAA		interphotoreceptor matrix proteoglycan 1							125.0	112.0	117.0					6																	76633407		2202	4299	6501	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76633407C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2260G>A	6.37:g.76633407C>T	ENSP00000358966:p.Glu754Lys						p.E754K	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			16	2390	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	754						Missense_Mutation	SNP	ENST00000369950.3	37	c.2260G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.002645	0.00431	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.20881	2.04;2.17	4.02	1.44	0.22558	.	0.865505	0.09705	N	0.766477	T	0.01523	0.0049	N	0.02539	-0.55	0.49483	D	0.99979	B	0.02656	0.0	B	0.01281	0.0	T	0.52689	-0.8542	10	0.02654	T	1	.	2.6209	0.04916	0.2279:0.1306:0.0:0.6415	.	754	Q17R60	IMPG1_HUMAN	K	754;115	ENSP00000358966:E754K;ENSP00000358968:E115K	ENSP00000358966:E754K	E	-	1	0	IMPG1	76690127	0.967000	0.33354	0.875000	0.34327	0.128000	0.20619	0.645000	0.24782	0.699000	0.31761	-0.312000	0.09012	GAA		PASS	0.299	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		20	29	20	29	---	---	---	---
TAAR2	9287	broad.mit.edu	37	6	132939033	132939033	+	Silent	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr6:132939033C>A	ENST00000367931.1	-	2	311	c.312G>T	c.(310-312)tcG>tcT	p.S104S	TAAR2_ENST00000275191.2_Silent_p.S59S|TAAR2_ENST00000537809.1_Silent_p.S59S			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	104					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.S104S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGTTCTCCACCGATCTGATCA	0.423																																						uc003qdl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(310-312)TCG>TCT		trace amine associated receptor 2 isoform 1							103.0	96.0	98.0					6																	132939033		2203	4300	6503	SO:0001819	synonymous_variant	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939033C>A	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.312G>T	6.37:g.132939033C>A						TAAR2_uc010kfr.1_Silent_p.S59S	p.S104S	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	312	-	Breast(56;0.135)		104			Extracellular (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	c.312G>T	CCDS34541.1																																																																																				PASS	0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		48	107	48	107	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167754034	167754034	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr6:167754034T>A	ENST00000239587.5	+	3	734	c.646T>A	c.(646-648)Tta>Ata	p.L216I		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	216	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.L216I(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCCTGCTGAGTTATCTCGTGG	0.418																																						uc003qvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(646-648)TTA>ATA		tubulin tyrosine ligase-like family, member 2							98.0	95.0	96.0					6																	167754034		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754034T>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.646T>A	6.37:g.167754034T>A	ENSP00000239587:p.Leu216Ile					TTLL2_uc011egr.1_RNA	p.L216I	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	734	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	216			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.646T>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567950	0.28003	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.08720	3.06	3.52	-2.98	0.05513	.	0.620826	0.12562	N	0.458046	T	0.08802	0.0218	M	0.84326	2.69	0.09310	N	1	D	0.59767	0.986	P	0.57204	0.815	T	0.05305	-1.0893	10	0.40728	T	0.16	.	6.4599	0.21950	0.1473:0.5566:0.0:0.2961	.	216	Q9BWV7	TTLL2_HUMAN	I	216;143	ENSP00000239587:L216I	ENSP00000239587:L216I	L	+	1	2	TTLL2	167674024	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	0.312000	0.19397	-0.475000	0.06852	0.397000	0.26171	TTA		PASS	0.418	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		45	160	45	160	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20784946	20784946	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr7:20784946G>T	ENST00000404938.2	+	26	3966	c.3314G>T	c.(3313-3315)tGc>tTc	p.C1105F	ABCB5_ENST00000258738.6_Missense_Mutation_p.C660F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1105	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.C660F(1)|p.C1105F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCTTCAACTGCAGCATTGCT	0.448																																						uc003suw.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1978-1980)TGC>TTC		ATP-binding cassette, sub-family B, member 5							136.0	123.0	127.0					7																	20784946		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20784946G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3314G>T	7.37:g.20784946G>T	ENSP00000384881:p.Cys1105Phe					ABCB5_uc010kuh.2_Missense_Mutation_p.C1105F	p.C660F	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			17	2525	+			660			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1979G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138045	0.56936	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.93547	-3.24;-3.24	5.18	5.18	0.71444	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.087808	0.47093	D	0.000244	T	0.79834	0.4514	N	0.00176	-1.92	0.58432	D	0.999997	B;B	0.31837	0.12;0.342	B;B	0.37451	0.164;0.25	T	0.82486	-0.0433	10	0.37606	T	0.19	.	17.8215	0.88652	0.0:0.0:1.0:0.0	.	1105;660	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	F	1105;660	ENSP00000384881:C1105F;ENSP00000258738:C660F	ENSP00000258738:C660F	C	+	2	0	ABCB5	20751471	1.000000	0.71417	0.998000	0.56505	0.836000	0.47400	4.731000	0.62022	2.554000	0.86153	0.655000	0.94253	TGC		PASS	0.448	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		48	110	48	110	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35242047	35242047	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr7:35242047C>T	ENST00000408931.3	-	8	1865	c.1339G>A	c.(1339-1341)Gta>Ata	p.V447I		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	447					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V447I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAGAGTCATACAAATGGCGTC	0.507																																						uc011kas.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1339-1341)GTA>ATA		T-box transcription factor TBX20							25.0	23.0	24.0					7																	35242047		1886	4116	6002	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35242047C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1339G>A	7.37:g.35242047C>T	ENSP00000386170:p.Val447Ile						p.V447I	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			8	1350	-			447					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.1339G>A	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054568	0.93793	.	.	ENSG00000164532	ENST00000408931	D	0.88975	-2.45	5.66	5.66	0.87406	.	.	.	.	.	D	0.89476	0.6726	N	0.14661	0.345	0.58432	D	0.999999	P	0.44690	0.841	P	0.58820	0.846	D	0.91151	0.4953	9	0.87932	D	0	.	19.7407	0.96230	0.0:1.0:0.0:0.0	.	447	Q9UMR3	TBX20_HUMAN	I	447	ENSP00000386170:V447I	ENSP00000386170:V447I	V	-	1	0	TBX20	35208572	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	7.487000	0.81328	2.654000	0.90174	0.609000	0.83330	GTA		PASS	0.507	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		9	17	9	17	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47453597	47453597	+	Splice_Site	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr7:47453597T>C	ENST00000398879.1	-	12	953		c.e12-2		TNS3_ENST00000442536.2_Splice_Site|TNS3_ENST00000458317.2_Splice_Site|TNS3_ENST00000311160.9_Splice_Site|TNS3_ENST00000355730.3_Splice_Site			Q68CZ2	TENS3_HUMAN	tensin 3						cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.?(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCCGGCACACTGAAAGAAAGG	0.542																																						uc003tnv.2																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e12-1		tensin 3							117.0	128.0	125.0					7																	47453597		2074	4239	6313	SO:0001630	splice_region_variant	64759					focal adhesion	protein binding	g.chr7:47453597T>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.587-2A>G	7.37:g.47453597T>C						TNS3_uc003tnw.2_Splice_Site_p.V196_splice|TNS3_uc010kyo.1_Splice_Site_p.V196_splice	p.V196_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			12	954	-								B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Splice_Site	SNP	ENST00000398879.1	37	c.587_splice	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904280	0.92035	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7925	0.46440	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNS3	47420122	1.000000	0.71417	0.491000	0.27477	0.898000	0.52572	6.435000	0.73412	1.867000	0.54127	0.379000	0.24179	.		PASS	0.542	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	Intron	32	112	32	112	---	---	---	---
TFR2	7036	broad.mit.edu	37	7	100230713	100230713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr7:100230713C>A	ENST00000462107.1	-	7	1047	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	TFR2_ENST00000223051.3_Nonsense_Mutation_p.E254*|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Nonsense_Mutation_p.E254*			Q9UP52	TFR2_HUMAN	transferrin receptor 2	254					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)	p.E254*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TGCAGGTCTTCGGGCCGCCCG	0.697																																						uc003uvv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(760-762)GAA>TAA		transferrin receptor 2							32.0	37.0	35.0					7																	100230713		2199	4294	6493	SO:0001587	stop_gained	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100230713C>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.760G>T	7.37:g.100230713C>A	ENSP00000420525:p.Glu254*					TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Nonsense_Mutation_p.E83*	p.E254*	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN			6	801	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		254			Extracellular (Potential).		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Nonsense_Mutation	SNP	ENST00000462107.1	37	c.760G>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	c	36	5.810320	0.96975	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	.	.	.	6.04	4.24	0.50183	.	0.337842	0.31577	N	0.007404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-25.0386	11.5015	0.50441	0.0:0.8517:0.0:0.1483	.	.	.	.	X	254	.	ENSP00000223051:E254X	E	-	1	0	TFR2	100068649	0.617000	0.27043	0.800000	0.32199	0.902000	0.53008	1.086000	0.30853	1.585000	0.49928	-0.215000	0.12644	GAA		PASS	0.697	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		25	71	25	71	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142568388	142568388	+	Silent	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr7:142568388C>T	ENST00000392957.2	+	19	3694	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Silent_p.F969F|EPHB6_ENST00000411471.2_Silent_p.F692F	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	969	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.F954F(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGGACAACTTCTCCAAGTTTG	0.607																																						uc011kst.1																			1	Substitution - coding silent(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2905-2907)TTC>TTT		ephrin receptor EphB6 precursor							97.0	97.0	97.0					7																	142568388		2203	4300	6503	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568388C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2907C>T	7.37:g.142568388C>T						EPHB6_uc011ksu.1_Silent_p.F969F|EPHB6_uc003wbs.2_Silent_p.F677F|EPHB6_uc003wbt.2_Silent_p.F443F|EPHB6_uc003wbu.2_Silent_p.F677F|EPHB6_uc003wbv.2_Silent_p.F353F	p.F969F	NM_004445	NP_004436	O15197	EPHB6_HUMAN			19	3694	+	Melanoma(164;0.059)		969			SAM.|Cytoplasmic (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.2907C>T	CCDS5873.2																																																																																				PASS	0.607	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			54	196	54	196	---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155094556	155094556	+	Splice_Site	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr7:155094556G>A	ENST00000340368.4	+	5	1015	c.804G>A	c.(802-804)atG>atA	p.M268I	INSIG1_ENST00000344756.4_Splice_Site_p.M116I|INSIG1_ENST00000342407.5_3'UTR	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	268					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.M268I(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	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)		AGTTAGCTATGGTAAGTGAAA	0.383																																						uc003wly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)ATG>ATA		insulin induced gene 1 isoform 1							152.0	151.0	151.0					7																	155094556		2203	4300	6503	SO:0001630	splice_region_variant	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155094556G>A		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.804+1G>A	7.37:g.155094556G>A						INSIG1_uc011kvu.1_Missense_Mutation_p.M116I|INSIG1_uc003wlz.2_3'UTR	p.M268I	NM_005542	NP_005533	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1015	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	268			Cytoplasmic.		A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.804G>A	CCDS5938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.489663|4.489663	0.84962|0.84962	.|.	.|.	ENSG00000186480|ENSG00000186480	ENST00000476756|ENST00000340368;ENST00000344756	.|T;T	.|0.46063	.|0.93;0.88	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.036947	.|0.85682	.|D	.|0.000000	T|T	0.53786|0.53786	0.1818|0.1818	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;D	.|0.54964	.|0.39;0.969	.|B;D	.|0.63381	.|0.281;0.914	T|T	0.54695|0.54695	-0.8255|-0.8255	5|10	.|0.56958	.|D	.|0.05	.|.	19.0723|19.0723	0.93145|0.93145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116;268	.|F5H6P3;O15503	.|.;INSI1_HUMAN	T|I	177|268;116	.|ENSP00000344741:M268I;ENSP00000340010:M116I	.|ENSP00000344741:M268I	A|M	+|+	1|3	0|0	INSIG1|INSIG1	154725491|154725491	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.934000|0.934000	0.57294|0.57294	7.472000|7.472000	0.80996|0.80996	2.579000|2.579000	0.87056|0.87056	0.650000|0.650000	0.86243|0.86243	GCT|ATG		PASS	0.383	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336	Missense_Mutation	54	193	54	193	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37699012	37699012	+	Silent	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr8:37699012C>T	ENST00000412232.2	+	19	3169	c.3156C>T	c.(3154-3156)tgC>tgT	p.C1052C	GPR124_ENST00000315215.7_Silent_p.C835C	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1052					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C1045C(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGTGCAGCTGCTTGTACGGGG	0.697																																						uc003xkj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(1)	5						c.(3154-3156)TGC>TGT		G protein-coupled receptor 124 precursor							23.0	26.0	25.0					8																	37699012		2203	4298	6501	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37699012C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3156C>T	8.37:g.37699012C>T						GPR124_uc010lvy.2_Silent_p.C835C	p.C1052C	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		19	3519	+			1052			Helical; Name=7; (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.3156C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	0.411	-0.913115	0.02415	.	.	ENSG00000020181	ENST00000416514	.	.	.	5.01	-2.76	0.05896	.	.	.	.	.	T	0.70701	0.3254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73385	-0.3999	5	0.72032	D	0.01	-13.5132	14.7557	0.69564	0.0:0.7046:0.0:0.2954	.	.	.	.	F	1045	.	ENSP00000405145:L1045F	L	+	1	0	GPR124	37818170	0.808000	0.29022	0.627000	0.29227	0.002000	0.02628	-0.063000	0.11655	-0.827000	0.04278	-0.355000	0.07637	CTT		PASS	0.697	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			39	91	39	91	---	---	---	---
INTS8	55656	broad.mit.edu	37	8	95879535	95879535	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr8:95879535A>G	ENST00000523731.1	+	20	2517	c.2384A>G	c.(2383-2385)cAc>cGc	p.H795R	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.H795R	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	795					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.H795R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACAGCTGAACACATTTCTATT	0.274																																						uc003yhb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2383-2385)CAC>CGC		integrator complex subunit 8							122.0	124.0	123.0					8																	95879535		2203	4296	6499	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95879535A>G	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2384A>G	8.37:g.95879535A>G	ENSP00000430338:p.His795Arg					INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.H622R	p.H795R	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			20	2510	+	Breast(36;1.05e-06)		795					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.2384A>G	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.43|16.43	3.121402|3.121402	0.56613|0.56613	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	T;T|.	0.32023|.	1.47;1.47|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.044936|.	0.85682|.	D|.	0.000000|.	T|T	0.68613|0.68613	0.3020|0.3020	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.29085|.	0.232|.	B|.	0.31812|.	0.136|.	T|T	0.67205|0.67205	-0.5729|-0.5729	10|5	0.62326|.	D|.	0.03|.	-16.1387|-16.1387	15.2027|15.2027	0.73153|0.73153	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	795|.	Q75QN2|.	INT8_HUMAN|.	R|A	795|617	ENSP00000430338:H795R;ENSP00000398203:H795R|.	ENSP00000398203:H795R|.	H|T	+|+	2|1	0|0	INTS8|INTS8	95948711|95948711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.701000|8.701000	0.91331|0.91331	1.983000|1.983000	0.57843|0.57843	0.455000|0.455000	0.32223|0.32223	CAC|ACA		PASS	0.274	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		59	208	59	208	---	---	---	---
MTERF3	51001	broad.mit.edu	37	8	97263324	97263324	+	Splice_Site	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr8:97263324C>G	ENST00000287025.3	-	4	586		c.e4-1		MTERFD1_ENST00000522822.1_Splice_Site|MTERFD1_ENST00000524341.1_Splice_Site|MTERFD1_ENST00000523821.1_Splice_Site	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN							negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATCCACGCCTATAATAAAT	0.333																																						uc003yhs.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e4-1		MTERF domain containing 1 precursor							49.0	50.0	50.0					8																	97263324		2202	4299	6501	SO:0001630	splice_region_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97263324C>G																												ENST00000287025.3:c.488-1G>C	8.37:g.97263324C>G						MTERFD1_uc003yhr.1_Splice_Site_p.G42_splice|MTERFD1_uc010mbd.1_Splice_Site_p.G163_splice	p.G163_splice	NM_015942	NP_057026	Q96E29	MTER1_HUMAN			4	566	-	Breast(36;5.16e-05)							B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.488_splice	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591043	0.66219	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000287025	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTERFD1	97332500	1.000000	0.71417	0.997000	0.53966	0.819000	0.46315	6.817000	0.75252	2.769000	0.95229	0.491000	0.48974	.		PASS	0.333	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		Intron	28	98	28	98	---	---	---	---
TG	7038	broad.mit.edu	37	8	134025901	134025901	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr8:134025901G>C	ENST00000220616.4	+	37	6494	c.6454G>C	c.(6454-6456)Gtg>Ctg	p.V2152L	TG_ENST00000542445.1_Missense_Mutation_p.V522L|TG_ENST00000519543.1_Missense_Mutation_p.V285L|TG_ENST00000377869.1_Missense_Mutation_p.V2095L|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2152					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V2152L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTGGGGCTGTGAGATGTAT	0.517																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(6454-6456)GTG>CTG		thyroglobulin precursor							131.0	113.0	119.0					8																	134025901		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134025901G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6454G>C	8.37:g.134025901G>C	ENSP00000220616:p.Val2152Leu					TG_uc010mdw.2_Missense_Mutation_p.V911L|TG_uc011ljb.1_Missense_Mutation_p.V521L|TG_uc011ljc.1_Missense_Mutation_p.V285L	p.V2152L	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	37	6495	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2152			Type IIIA.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6454G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.718|9.718	1.158837|1.158837	0.21454|0.21454	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.68903	.|-0.15;-0.17;-0.36;-0.33	5.18|5.18	2.39|2.39	0.29439|0.29439	.|.	.|0.507061	.|0.18166	.|N	.|0.149606	T|T	0.61986|0.61986	0.2391|0.2391	M|M	0.74881|0.74881	2.28|2.28	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.15719	.|0.008;0.014;0.008	.|B;B;B	.|0.12837	.|0.004;0.008;0.006	T|T	0.58509|0.58509	-0.7624|-0.7624	5|10	.|0.87932	.|D	.|0	.|.	5.6691|5.6691	0.17713|0.17713	0.1781:0.1606:0.6613:0.0|0.1781:0.1606:0.6613:0.0	.|.	.|285;522;2152	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	S|L	607|2095;958;2152;522;285	.|ENSP00000367100:V2095L;ENSP00000220616:V2152L;ENSP00000441693:V522L;ENSP00000430430:V285L	.|ENSP00000220616:V2152L	C|V	+|+	2|1	0|0	TG|TG	134095083|134095083	0.561000|0.561000	0.26578|0.26578	0.229000|0.229000	0.23960|0.23960	0.381000|0.381000	0.30169|0.30169	1.029000|1.029000	0.30140|0.30140	0.279000|0.279000	0.22186|0.22186	-0.254000|-0.254000	0.11334|0.11334	TGT|GTG		PASS	0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		37	122	37	122	---	---	---	---
DNM1	1759	broad.mit.edu	37	9	131004537	131004537	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr9:131004537C>G	ENST00000372923.3	+	15	1676	c.1584C>G	c.(1582-1584)atC>atG	p.I528M	MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000341179.7_Missense_Mutation_p.I528M|DNM1_ENST00000493925.1_3'UTR|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000475805.1_Missense_Mutation_p.I528M|DNM1_ENST00000393594.3_Missense_Mutation_p.I528M|DNM1_ENST00000486160.1_Missense_Mutation_p.I528M	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	528	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.I528M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGCTGACTATCAATAATATTG	0.557																																					GBM(113;146 1575 2722 28670 29921)	uc011mau.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1582-1584)ATC>ATG		dynamin 1 isoform 1							81.0	69.0	73.0					9																	131004537		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131004537C>G	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1584C>G	9.37:g.131004537C>G	ENSP00000362014:p.Ile528Met					DNM1_uc011mat.1_Missense_Mutation_p.I528M|DNM1_uc004bub.1_Translation_Start_Site|DNM1_uc004buc.1_Translation_Start_Site|DNM1_uc004bud.3_RNA	p.I528M	NM_004408	NP_004399	Q05193	DYN1_HUMAN			15	1671	+			528			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1584C>G	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518638	0.64634	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	4.51	3.61	0.41365	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97074	0.9044	M	0.65320	2	0.80722	D	1	D;D	0.59767	0.986;0.983	D;D	0.69307	0.963;0.938	D	0.96805	0.9592	10	0.56958	D	0.05	-14.5903	11.9794	0.53111	0.0:0.915:0.0:0.085	.	528;528	Q05193;Q05193-3	DYN1_HUMAN;.	M	528;528;528;523;528;528;73	ENSP00000419225:I528M;ENSP00000345680:I528M;ENSP00000362014:I528M;ENSP00000377219:I528M;ENSP00000420045:I528M	ENSP00000345680:I528M	I	+	3	3	DNM1	130044358	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.928000	0.48908	1.243000	0.43853	0.467000	0.42956	ATC		PASS	0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		14	23	14	23	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135945996	135945996	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr9:135945996A>G	ENST00000372080.4	+	10	1460	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	479					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.T482A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCAAGACAGGACAGTCTCTAA	0.607																																						uc010naa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1444-1446)ACA>GCA		carboxyl ester lipase precursor							83.0	95.0	91.0					9																	135945996		2004	4163	6167	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135945996A>G	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1444A>G	9.37:g.135945996A>G	ENSP00000361151:p.Thr482Ala						p.T482A	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1460	+			479					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.1444A>G	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290493	0.23478	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.66815	-0.23	5.69	1.87	0.25490	Carboxylesterase, type B (1);	0.296062	0.38058	N	0.001840	T	0.37073	0.0990	N	0.04355	-0.22	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.03315	-1.1049	10	0.26408	T	0.33	.	5.4004	0.16293	0.6495:0.1366:0.2139:0.0	.	479	P19835	CEL_HUMAN	A	482;481	ENSP00000361151:T482A	ENSP00000304021:T481A	T	+	1	0	CEL	134935817	1.000000	0.71417	0.087000	0.20705	0.601000	0.36947	3.108000	0.50337	0.069000	0.16605	0.386000	0.25728	ACA		PASS	0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			38	89	38	89	---	---	---	---
GBGT1	26301	broad.mit.edu	37	9	136029232	136029232	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr9:136029232T>C	ENST00000372040.3	-	7	1087	c.776A>G	c.(775-777)tAt>tGt	p.Y259C	GBGT1_ENST00000540636.1_Missense_Mutation_p.Y242C|GBGT1_ENST00000372043.3_Missense_Mutation_p.I253V|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	259					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)	p.Y259C(1)		breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCCACCATAATAGAAGTCCCC	0.592																																						uc004ccw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)TAT>TGT		globoside							68.0	71.0	70.0					9																	136029232		2203	4300	6503	SO:0001583	missense	26301				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding	g.chr9:136029232T>C	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.776A>G	9.37:g.136029232T>C	ENSP00000361110:p.Tyr259Cys					RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Missense_Mutation_p.Y212C|GBGT1_uc010nab.2_3'UTR|GBGT1_uc011mcx.1_Missense_Mutation_p.Y242C|GBGT1_uc010nac.1_Missense_Mutation_p.Y123C|GBGT1_uc004ccy.1_3'UTR	p.Y259C	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1057	-			259			Lumenal (Potential).		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.776A>G	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.132767|4.132767	0.77662|0.77662	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372043|ENST00000372040;ENST00000540636	T|T;T	0.20332|0.08896	2.08|3.04;3.04	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38506|0.38506	0.1043|0.1043	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.50857|0.50857	-0.8778|-0.8778	7|10	0.87932|0.87932	D|D	0|0	-15.3642|-15.3642	14.7288|14.7288	0.69365|0.69365	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|242;259	.|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	V|C	253|259;242	ENSP00000361113:I253V|ENSP00000361110:Y259C;ENSP00000437663:Y242C	ENSP00000361113:I253V|ENSP00000361110:Y259C	I|Y	-|-	1|2	0|0	GBGT1|GBGT1	135019053|135019053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	3.933000|3.933000	0.56545|0.56545	2.071000|2.071000	0.62044|0.62044	0.459000|0.459000	0.35465|0.35465	ATT|TAT		PASS	0.592	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		38	51	38	51	---	---	---	---
AKR1CL1	340811	broad.mit.edu	37	10	5227068	5227068	+	5'UTR	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr10:5227068C>T	ENST00000334314.3	-	0	76				AKR1CL1_ENST00000445191.1_Intron			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1							cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCGTCATCATCCCCAGCTAAC	0.507																																					Ovarian(129;1623 1737 25446 28757 47467)	uc009xhz.2																			0					0								Homo sapiens cDNA FLJ16347 fis, clone TESTI2036288, moderately similar to PROSTAGLANDIN-F SYNTHASE 1 (EC 1.1.1.188).							182.0	142.0	155.0					10																	5227068		2203	4300	6503	SO:0001623	5_prime_UTR_variant	340811							g.chr10:5227068C>T			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.-1G>A	10.37:g.5227068C>T								NR_027916						1		-								A6NF66|Q6ZN81	RNA	SNP	ENST00000334314.3	37	c.83G>A																																																																																					PASS	0.507	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916		28	95	28	95	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21177072	21177072	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr10:21177072G>A	ENST00000377122.4	-	4	719	c.323C>T	c.(322-324)aCa>aTa	p.T108I	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.T108I|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	108					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.T108I(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTGTCAATTGTGGCTGGCAT	0.353																																						uc001iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(322-324)ACA>ATA		nebulette sarcomeric isoform							86.0	89.0	88.0					10																	21177072		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21177072G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.323C>T	10.37:g.21177072G>A	ENSP00000366326:p.Thr108Ile					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.T108I	NM_006393	NP_006384	O76041	NEBL_HUMAN			4	720	-			108			Nebulin 3.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.323C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516270	0.85495	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.60672	1.46;0.17;0.17	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.78748	0.4332	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79354	-0.1838	10	0.72032	D	0.01	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	108	O76041	NEBL_HUMAN	I	108;108;92	ENSP00000366326:T108I;ENSP00000366323:T108I;ENSP00000396512:T92I	ENSP00000366323:T108I	T	-	2	0	NEBL	21217078	1.000000	0.71417	0.951000	0.38953	0.868000	0.49771	7.159000	0.77483	2.812000	0.96745	0.557000	0.71058	ACA		PASS	0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		40	69	40	69	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28233864	28233864	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr10:28233864C>G	ENST00000305242.5	-	11	1506	c.1414G>C	c.(1414-1416)Gcg>Ccg	p.A472P	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.A164P|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	472					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.A472P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAACACAACGCAATCACTGTA	0.438																																						uc009xky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1414-1416)GCG>CCG		armadillo repeat containing 4							122.0	114.0	117.0					10																	28233864		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28233864C>G	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1414G>C	10.37:g.28233864C>G	ENSP00000306410:p.Ala472Pro					ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_Missense_Mutation_p.A164P|ARMC4_uc001itz.2_Missense_Mutation_p.A472P|ARMC4_uc010qdu.1_Missense_Mutation_p.A164P	p.A472P	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			11	1512	-			472					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1414G>C	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194983	0.78902	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573	T;T	0.63913	-0.07;-0.07	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.218700	0.47852	D	0.000212	T	0.81370	0.4808	M	0.82823	2.61	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.82762	-0.0297	10	0.87932	D	0	-17.0538	20.3668	0.98882	0.0:1.0:0.0:0.0	.	472	Q5T2S8	ARMC4_HUMAN	P	164;472;164	ENSP00000443208:A164P;ENSP00000306410:A472P	ENSP00000306410:A472P	A	-	1	0	ARMC4	28273870	1.000000	0.71417	0.915000	0.36163	0.577000	0.36160	4.739000	0.62080	2.894000	0.99253	0.655000	0.94253	GCG		PASS	0.438	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		26	106	26	106	---	---	---	---
ARHGAP12	94134	broad.mit.edu	37	10	32098194	32098194	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr10:32098194C>A	ENST00000344936.2	-	17	2326	c.2092G>T	c.(2092-2094)Gca>Tca	p.A698S	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.A693S|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.A646S|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.A668S|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.A646S|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	698	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A698S(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGGATCACTGCGAGGTTGCCA	0.358																																						uc001ivz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2092-2094)GCA>TCA		Rho GTPase activating protein 12							125.0	119.0	121.0					10																	32098194		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32098194C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.2092G>T	10.37:g.32098194C>A	ENSP00000345808:p.Ala698Ser					ARHGAP12_uc001ivy.1_Missense_Mutation_p.A644S|ARHGAP12_uc009xls.2_Missense_Mutation_p.A649S|ARHGAP12_uc001iwb.1_Missense_Mutation_p.A691S|ARHGAP12_uc001iwc.1_Missense_Mutation_p.A666S|ARHGAP12_uc009xlq.1_Missense_Mutation_p.A619S|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR	p.A698S	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			17	2362	-		Prostate(175;0.0199)	698			Rho-GAP.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.2092G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271702	0.95429	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.96	5.96	0.96718	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.31578	0.945	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.99;0.992;0.992;0.99	D;D;D;D;D	0.75484	0.986;0.926;0.956;0.956;0.926	T	0.02617	-1.1133	10	0.72032	D	0.01	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	651;668;693;698;646	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;RHG12_HUMAN;.	S	646;668;698;693;646	ENSP00000310984:A646S;ENSP00000364399:A668S;ENSP00000345808:A698S;ENSP00000379448:A693S;ENSP00000364394:A646S	ENSP00000310984:A646S	A	-	1	0	ARHGAP12	32138200	1.000000	0.71417	0.984000	0.44739	0.907000	0.53573	6.014000	0.70784	2.823000	0.97156	0.650000	0.86243	GCA		PASS	0.358	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			33	117	33	117	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102116493	102116493	+	Silent	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr10:102116493G>A	ENST00000370355.2	+	5	1233	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	284					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.E284E(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCCCCGGGAGAATATCCTGG	0.502																																					Colon(67;260 1459 9574 11663)	uc001kqy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(850-852)GAG>GAA		stearoyl-CoA desaturase 1							49.0	44.0	45.0					10																	102116493		2203	4300	6503	SO:0001819	synonymous_variant	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102116493G>A	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.852G>A	10.37:g.102116493G>A							p.E284E	NM_005063	NP_005054	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	5	1342	+		Colorectal(252;0.0323)	284			Cytoplasmic (Potential).		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Silent	SNP	ENST00000370355.2	37	c.852G>A	CCDS7493.1																																																																																				PASS	0.502	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		12	45	12	45	---	---	---	---
CPT1A	1374	broad.mit.edu	37	11	68549256	68549256	+	Silent	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr11:68549256G>A	ENST00000265641.5	-	11	1489	c.1335C>T	c.(1333-1335)caC>caT	p.H445H	CPT1A_ENST00000540367.1_Silent_p.H445H|CPT1A_ENST00000376618.2_Silent_p.H445H|CPT1A_ENST00000539743.1_Silent_p.H445H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	445					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.H445H(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AACATCGGCCGTGTAGTAGAG	0.488																																						uc001oog.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(1333-1335)CAC>CAT		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						350.0	277.0	302.0					11																	68549256		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68549256G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1335C>T	11.37:g.68549256G>A						CPT1A_uc001oof.3_Silent_p.H445H|CPT1A_uc009ysj.2_Intron	p.H445H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		11	1505	-	Esophageal squamous(3;3.28e-14)		445			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1335C>T	CCDS8185.1																																																																																				PASS	0.488	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		91	289	91	289	---	---	---	---
ALKBH8	91801	broad.mit.edu	37	11	107403129	107403129	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr11:107403129C>A	ENST00000428149.2	-	8	926	c.775G>T	c.(775-777)Gtc>Ttc	p.V259F	ALKBH8_ENST00000389568.3_Missense_Mutation_p.V259F|ALKBH8_ENST00000417449.2_Missense_Mutation_p.V262F|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	259	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.V262F(1)|p.V259F(1)|p.C235F(1)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AAATCCATGACAATCTTGAAG	0.388																																						uc010rvr.1																			3	Substitution - Missense(3)		lung(3)		0						c.(775-777)GTC>TTC		alkB, alkylation repair homolog 8							89.0	82.0	84.0					11																	107403129		2201	4298	6499	SO:0001583	missense	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107403129C>A	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.775G>T	11.37:g.107403129C>A	ENSP00000415885:p.Val259Phe					ALKBH8_uc001pjk.2_Missense_Mutation_p.V7F|ALKBH8_uc010rvq.1_Missense_Mutation_p.V122F|ALKBH8_uc009yxp.2_Missense_Mutation_p.V259F|ALKBH8_uc001pjl.2_RNA	p.V259F	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	8	850	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	259			Fe2OG dioxygenase.		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	c.775G>T	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776984	0.90195	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.33216	1.42;1.42;1.42	4.76	4.76	0.60689	Oxoglutarate/iron-dependent oxygenase (2);	0.145674	0.46442	D	0.000292	T	0.62612	0.2442	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70930	-0.4738	9	.	.	.	-18.7523	16.7484	0.85479	0.0:1.0:0.0:0.0	.	259;262	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	F	259;259;262	ENSP00000415885:V259F;ENSP00000374219:V259F;ENSP00000397673:V262F	.	V	-	1	0	ALKBH8	106908339	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.324000	0.79115	2.185000	0.69588	0.655000	0.94253	GTC		PASS	0.388	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		20	77	20	77	---	---	---	---
M6PR	4074	broad.mit.edu	37	12	9098176	9098176	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:9098176C>G	ENST00000000412.3	-	3	649	c.181G>C	c.(181-183)Gag>Cag	p.E61Q		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	61					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)	p.E61Q(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	ACAGTGCTCTCAAAGCTGTAA	0.468																																						uc001qvf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GAG>CAG		cation-dependent mannose-6-phosphate receptor							65.0	58.0	60.0					12																	9098176		2203	4300	6503	SO:0001583	missense	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9098176C>G		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.181G>C	12.37:g.9098176C>G	ENSP00000000412:p.Glu61Gln						p.E61Q	NM_002355	NP_002346	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	3	351	-		Hepatocellular(102;0.137)	61			Lumenal (Potential).		A8K528|D3DUV5	Missense_Mutation	SNP	ENST00000000412.3	37	c.181G>C	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105058	0.37145	.	.	ENSG00000003056	ENST00000000412;ENST00000543845;ENST00000543159	T;T;T	0.77098	-1.07;-1.07;-1.07	5.79	4.9	0.64082	Mannose-6-phosphate receptor, binding (1);	0.445787	0.27126	N	0.020820	T	0.70988	0.3287	L	0.50333	1.59	0.32260	N	0.570319	B	0.06786	0.001	B	0.06405	0.002	T	0.68269	-0.5453	10	0.13853	T	0.58	-18.5555	14.8884	0.70587	0.0:0.7279:0.2721:0.0	.	61	P20645	MPRD_HUMAN	Q	61	ENSP00000000412:E61Q;ENSP00000440962:E61Q;ENSP00000441030:E61Q	ENSP00000000412:E61Q	E	-	1	0	M6PR	8989443	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.097000	0.30988	1.431000	0.47355	0.650000	0.86243	GAG		PASS	0.468	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			25	79	25	79	---	---	---	---
KLRB1	3820	broad.mit.edu	37	12	9750713	9750713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:9750713C>T	ENST00000229402.3	-	5	505	c.459G>A	c.(457-459)tgG>tgA	p.W153*		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	153	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.W153*(1)		endometrium(2)|large_intestine(6)|lung(4)	12						TTAATCCAATCCAAAACAGAA	0.318																																						uc010sgt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(457-459)TGG>TGA		killer cell lectin-like receptor subfamily B,							53.0	49.0	50.0					12																	9750713		2202	4291	6493	SO:0001587	stop_gained	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9750713C>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.459G>A	12.37:g.9750713C>T	ENSP00000229402:p.Trp153*						p.W153*	NM_002258	NP_002249	Q12918	KLRB1_HUMAN			5	521	-			153			C-type lectin.|Extracellular (Potential).		Q24K24	Nonsense_Mutation	SNP	ENST00000229402.3	37	c.459G>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561527	0.45590	.	.	ENSG00000111796	ENST00000229402	.	.	.	3.06	3.06	0.35304	.	0.000000	0.40222	N	0.001142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8288	9.8491	0.41046	0.0:1.0:0.0:0.0	.	.	.	.	X	153	.	ENSP00000229402:W153X	W	-	3	0	KLRB1	9641980	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	2.228000	0.42981	2.022000	0.59522	0.655000	0.94253	TGG		PASS	0.318	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		14	55	14	55	---	---	---	---
ETV6	2120	broad.mit.edu	37	12	11905406	11905406	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:11905406C>A	ENST00000396373.4	+	2	330	c.56C>A	c.(55-57)cCt>cAt	p.P19H	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	19					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P19H(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCATATACACCTCCAGAGAGC	0.542			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - Missense(1)		lung(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(55-57)CCT>CAT		ets variant 6							91.0	85.0	87.0					12																	11905406		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:11905406C>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.56C>A	12.37:g.11905406C>A	ENSP00000379658:p.Pro19His						p.P19H	NM_001987	NP_001978	P41212	ETV6_HUMAN			2	330	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	19					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.56C>A	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124194	0.77436	.	.	ENSG00000139083	ENST00000396373	T	0.10668	2.85	5.73	4.81	0.61882	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.32530	0.975	0.47659	D	0.999488	D	0.89917	1.0	D	0.85130	0.997	T	0.01192	-1.1423	10	0.49607	T	0.09	.	15.3707	0.74560	0.1407:0.8593:0.0:0.0	.	19	P41212	ETV6_HUMAN	H	19	ENSP00000379658:P19H	ENSP00000379658:P19H	P	+	2	0	ETV6	11796673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.335000	0.65929	1.354000	0.45846	0.655000	0.94253	CCT		PASS	0.542	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		51	158	51	158	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31238029	31238029	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:31238029G>A	ENST00000407793.2	+	5	858	c.607G>A	c.(607-609)Gag>Aag	p.E203K	DDX11_ENST00000228264.6_Missense_Mutation_p.E177K|DDX11_ENST00000542838.1_Missense_Mutation_p.E203K|DDX11_ENST00000251758.5_Missense_Mutation_p.E203K|DDX11_ENST00000545668.1_Missense_Mutation_p.E203K|DDX11_ENST00000350437.4_Missense_Mutation_p.E203K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	203	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E203K(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGCCGAATACGAGAGTGATGA	0.627										Multiple Myeloma(12;0.14)																												uc001rjt.1																			2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(607-609)GAG>AAG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							27.0	28.0	28.0					12																	31238029		2201	4290	6491	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31238029G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.607G>A	12.37:g.31238029G>A	ENSP00000384703:p.Glu203Lys	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.E203K|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.E203K|DDX11_uc001rjs.1_Missense_Mutation_p.E203K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E203K|DDX11_uc001rjw.1_Missense_Mutation_p.E177K|DDX11_uc001rjx.1_5'Flank	p.E203K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			5	858	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		203			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.607G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476629	0.44044	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.80994	-1.44;-0.61;4.09;-1.34;0.32;4.08;-0.61;-1.15	3.7	2.8	0.32819	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.057928	0.64402	D	0.000002	T	0.78892	0.4355	M	0.77406	2.37	0.46774	D	0.999195	D;D;D;D	0.71674	0.998;0.997;0.992;0.996	P;P;P;P	0.47981	0.484;0.453;0.454;0.563	T	0.76263	-0.3023	10	0.09338	T	0.73	.	8.7095	0.34376	0.1151:0.0:0.8849:0.0	.	203;203;203;203	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	203;203;203;177;174;177;203;203	ENSP00000443426:E203K;ENSP00000384703:E203K;ENSP00000251758:E203K;ENSP00000228264:E177K;ENSP00000407646:E174K;ENSP00000406457:E177K;ENSP00000440402:E203K;ENSP00000309965:E203K	ENSP00000228264:E177K	E	+	1	0	DDX11	31129296	1.000000	0.71417	0.102000	0.21198	0.016000	0.09150	4.158000	0.58150	0.759000	0.33084	0.505000	0.49811	GAG		PASS	0.627	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		7	9	7	9	---	---	---	---
CACNB3	784	broad.mit.edu	37	12	49221670	49221670	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:49221670G>C	ENST00000301050.2	+	13	1642	c.1443G>C	c.(1441-1443)aaG>aaC	p.K481N	CACNB3_ENST00000547392.1_Missense_Mutation_p.K454N|CACNB3_ENST00000536187.2_Missense_Mutation_p.K480N|CACNB3_ENST00000547230.1_Missense_Mutation_p.K440N|CACNB3_ENST00000540990.1_Missense_Mutation_p.K468N	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	481					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.K481N(1)|p.K480N(1)		autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGGCCCAAGGATAGCTACT	0.647																																						uc001rsl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1441-1443)AAG>AAC		calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)						49.0	51.0	50.0					12																	49221670		2203	4299	6502	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221670G>C		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1443G>C	12.37:g.49221670G>C	ENSP00000301050:p.Lys481Asn					CACNB3_uc010sly.1_Missense_Mutation_p.K468N|CACNB3_uc010slz.1_Missense_Mutation_p.K480N|CACNB3_uc001rsk.1_Missense_Mutation_p.K328N	p.K481N	NM_000725	NP_000716	P54284	CACB3_HUMAN			13	1644	+			481					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.1443G>C	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142842	0.57044	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T	0.74106	-0.78;-0.78;-0.81;-0.78;-0.19	5.5	3.68	0.42216	.	0.061203	0.64402	D	0.000005	T	0.57548	0.2061	N	0.14661	0.345	0.43036	D	0.994614	P;P;P;P	0.40731	0.728;0.728;0.608;0.608	B;B;B;B	0.38616	0.277;0.277;0.143;0.143	T	0.62253	-0.6893	10	0.72032	D	0.01	-28.1396	11.1324	0.48354	0.151:0.0:0.849:0.0	.	480;468;481;468	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	N	468;480;454;481;440	ENSP00000445495:K468N;ENSP00000444160:K480N;ENSP00000446529:K454N;ENSP00000301050:K481N;ENSP00000448304:K440N	ENSP00000301050:K481N	K	+	3	2	CACNB3	47507937	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.264000	0.33015	0.886000	0.36113	-0.140000	0.14226	AAG		PASS	0.647	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			12	37	12	37	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111957681	111957681	+	Splice_Site	SNP	A	A	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:111957681A>T	ENST00000377617.3	-	8	1628		c.e8+1		ATXN2_ENST00000549455.1_5'Flank|ATXN2_ENST00000542287.2_Splice_Site|ATXN2_ENST00000550104.1_Splice_Site|ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000608853.1_Splice_Site|ATXN2_ENST00000535949.1_Splice_Site	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2						cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTTTAAATACCTAGTGTTT	0.388																																						uc001tsj.2																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e8+1		ataxin 2							174.0	160.0	165.0					12																	111957681		2203	4300	6503	SO:0001630	splice_region_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111957681A>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1466+1T>A	12.37:g.111957681A>T						ATXN2_uc001tsh.2_Splice_Site_p.R224_splice|ATXN2_uc001tsi.2_Splice_Site_p.R200_splice|ATXN2_uc001tsk.2_Splice_Site|ATXN2_uc001tsm.1_Splice_Site_p.R224_splice	p.R489_splice	NM_002973	NP_002964	Q99700	ATX2_HUMAN			8	1628	-								A6NLD4|Q6ZQZ7|Q99493	Splice_Site	SNP	ENST00000377617.3	37	c.1466_splice	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935316	0.73442	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4284	0.75072	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATXN2	110442064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.707000	0.68370	2.042000	0.60477	0.459000	0.35465	.		PASS	0.388	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	Intron	87	231	87	231	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125461949	125461949	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:125461949C>T	ENST00000308736.2	-	5	924	c.826G>A	c.(826-828)Gag>Aag	p.E276K	DHX37_ENST00000544745.1_Missense_Mutation_p.E63K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	276	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E276K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTGCCGGTCTCACCACACACG	0.577																																						uc001ugy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(826-828)GAG>AAG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							115.0	102.0	106.0					12																	125461949		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125461949C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.826G>A	12.37:g.125461949C>T	ENSP00000311135:p.Glu276Lys						p.E276K	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	5	925	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		276			ATP (By similarity).|Helicase ATP-binding.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.826G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082045	0.76528	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.05855	3.38;3.38	5.06	5.06	0.68205	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	H	0.98133	4.155	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.65776	-0.6086	10	0.72032	D	0.01	-8.0253	18.0298	0.89279	0.0:1.0:0.0:0.0	.	276	Q8IY37	DHX37_HUMAN	K	276;63	ENSP00000311135:E276K;ENSP00000439009:E63K	ENSP00000311135:E276K	E	-	1	0	DHX37	124027902	1.000000	0.71417	0.933000	0.37362	0.081000	0.17604	7.023000	0.76437	2.358000	0.79984	0.467000	0.42956	GAG		PASS	0.577	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		44	126	44	126	---	---	---	---
SLC15A4	121260	broad.mit.edu	37	12	129294641	129294641	+	Silent	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:129294641G>C	ENST00000266771.5	-	3	897	c.858C>G	c.(856-858)gtC>gtG	p.V286V	SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	286					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.V286V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		ATTGCTGAAAGACTCCAATGC	0.378																																						uc001uhu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(856-858)GTC>GTG		solute carrier family 15, member 4							102.0	100.0	101.0					12																	129294641		2203	4300	6503	SO:0001819	synonymous_variant	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129294641G>C	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.858C>G	12.37:g.129294641G>C						SLC15A4_uc001uhv.2_Intron	p.V286V	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	3	911	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		286					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Silent	SNP	ENST00000266771.5	37	c.858C>G	CCDS9264.1																																																																																				PASS	0.378	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		47	136	47	136	---	---	---	---
SLC15A4	121260	broad.mit.edu	37	12	129299345	129299345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:129299345G>A	ENST00000266771.5	-	2	856	c.817C>T	c.(817-819)Cga>Tga	p.R273*	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	273					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.R273*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCTCCACTTCGCTTCTGGGAA	0.478																																						uc001uhu.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(817-819)CGA>TGA		solute carrier family 15, member 4							116.0	104.0	108.0					12																	129299345		2203	4300	6503	SO:0001587	stop_gained	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129299345G>A	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.817C>T	12.37:g.129299345G>A	ENSP00000266771:p.Arg273*					SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank	p.R273*	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	2	870	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		273					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Nonsense_Mutation	SNP	ENST00000266771.5	37	c.817C>T	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772623	0.49680	.	.	ENSG00000139370	ENST00000266771	.	.	.	5.16	3.31	0.37934	.	0.722904	0.13016	N	0.420477	.	.	.	.	.	.	0.24165	N	0.995641	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.5916	0.28025	0.0803:0.0:0.6105:0.3091	.	.	.	.	X	273	.	ENSP00000266771:R273X	R	-	1	2	SLC15A4	127865298	0.084000	0.21492	0.001000	0.08648	0.013000	0.08279	1.986000	0.40677	0.545000	0.28902	-0.188000	0.12872	CGA		PASS	0.478	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		59	111	59	111	---	---	---	---
PUS1	80324	broad.mit.edu	37	12	132425925	132425925	+	Silent	SNP	G	G	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr12:132425925G>T	ENST00000376649.3	+	5	1133	c.633G>T	c.(631-633)gcG>gcT	p.A211A	PUS1_ENST00000542167.2_Silent_p.A158A|PUS1_ENST00000440818.2_Silent_p.A183A|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Silent_p.A183A	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	211					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)	p.A211A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TTGCCTTTGCGCACAAGGACC	0.607																																					Esophageal Squamous(102;671 2009 17384 45666)	uc001ujf.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(631-633)GCG>GCT		pseudouridine synthase 1 isoform 1							117.0	95.0	103.0					12																	132425925		2203	4300	6503	SO:0001819	synonymous_variant	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132425925G>T	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.633G>T	12.37:g.132425925G>T						PUS1_uc001ujg.2_Silent_p.A183A|PUS1_uc001ujh.2_Silent_p.A183A|PUS1_uc001uji.2_Silent_p.A158A	p.A211A	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	5	1112	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		211					A8K877|B3KQC1|Q8WYT2|Q9BU44	Silent	SNP	ENST00000376649.3	37	c.633G>T	CCDS9275.2																																																																																				PASS	0.607	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		28	67	28	67	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748035	19748035	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr13:19748035C>T	ENST00000400113.3	-	5	1425	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	441					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E441K(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCCTCGGCTTCCACGGAATCC	0.587																																						uc009zzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1321-1323)GAA>AAA		tubulin, alpha 3c							110.0	115.0	113.0					13																	19748035		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748035C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1321G>A	13.37:g.19748035C>T	ENSP00000382982:p.Glu441Lys						p.E441K	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1370	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	441					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1321G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.44	1.351297	0.24512	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.78481	-1.18	1.22	1.22	0.21188	.	0.120734	0.32852	U	0.005571	T	0.79958	0.4536	.	.	.	0.38823	D	0.955686	.	.	.	.	.	.	T	0.80870	-0.1189	7	0.72032	D	0.01	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	K	441;409	ENSP00000382982:E441K	ENSP00000354037:E409K	E	-	1	0	TUBA3C	18646035	0.987000	0.35691	0.888000	0.34837	0.625000	0.37756	4.730000	0.62015	0.982000	0.38575	0.194000	0.17425	GAA		PASS	0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		106	98	106	98	---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65197885	65197885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr14:65197885C>T	ENST00000394691.1	+	7	994	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	PLEKHG3_ENST00000247226.7_Nonsense_Mutation_p.Q227*			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	283							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q227*(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGTCCGGCTCCAGGTGCTCTG	0.652																																						uc001xho.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(847-849)CAG>TAG		pleckstrin homology domain containing, family G,							51.0	49.0	49.0					14																	65197885		2203	4300	6503	SO:0001587	stop_gained	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197885C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.847C>T	14.37:g.65197885C>T	ENSP00000378183:p.Gln283*					PLEKHG3_uc001xhn.1_Nonsense_Mutation_p.Q227*|PLEKHG3_uc001xhp.2_Nonsense_Mutation_p.Q283*|PLEKHG3_uc010aqh.1_5'UTR	p.Q283*	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	7	1116	+			283					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Nonsense_Mutation	SNP	ENST00000394691.1	37	c.847C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.343450	0.95783	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.077	0.80974	0.0:1.0:0.0:0.0	.	.	.	.	X	227;283	.	ENSP00000247226:Q227X	Q	+	1	0	PLEKHG3	64267638	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.831000	0.62752	2.135000	0.66039	0.549000	0.68633	CAG		PASS	0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		14	34	14	34	---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65209878	65209878	+	Silent	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr14:65209878C>G	ENST00000394691.1	+	17	3264	c.3117C>G	c.(3115-3117)ctC>ctG	p.L1039L	PLEKHG3_ENST00000484731.2_Silent_p.L544L|PLEKHG3_ENST00000471182.2_Silent_p.L572L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Silent_p.L983L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1039							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L983L(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGAGCCCCCTCAGCCCCACAG	0.706																																						uc001xho.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3115-3117)CTC>CTG		pleckstrin homology domain containing, family G,							50.0	60.0	57.0					14																	65209878		2201	4298	6499	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209878C>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3117C>G	14.37:g.65209878C>G						PLEKHG3_uc001xhn.1_Silent_p.L983L|PLEKHG3_uc001xhp.2_Silent_p.L1160L|PLEKHG3_uc010aqh.1_Silent_p.L581L|PLEKHG3_uc001xhq.1_Silent_p.L544L	p.L1039L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	17	3386	+			1039					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.3117C>G																																																																																					PASS	0.706	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		44	138	44	138	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78782999	78782999	+	Silent	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr15:78782999C>G	ENST00000258886.8	+	18	2369	c.2220C>G	c.(2218-2220)gcC>gcG	p.A740A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	740					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.A740A(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTGAAAATGCCCATGTCTTAT	0.378																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(2218-2220)GCC>GCG		iron-responsive element binding protein 2							137.0	140.0	139.0					15																	78782999		2196	4293	6489	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78782999C>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2220C>G	15.37:g.78782999C>G						IREB2_uc010unb.1_Silent_p.A490A	p.A740A	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	18	2382	+			740					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.2220C>G	CCDS10302.1																																																																																				PASS	0.378	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		97	328	97	328	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100331367	100331367	+	RNA	SNP	A	A	T	rs559026576		TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr15:100331367A>T	ENST00000341853.1	-	0	2824				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCACCCCGCAATGGCAGAAGA	0.562																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							37.0	44.0	42.0					15																	100331367		872	1991	2863			196968							g.chr15:100331367A>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331367A>T						C15orf51_uc010ury.1_RNA		NR_003260						5		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.2825T>A																																																																																					PASS	0.562	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		17	40	17	40	---	---	---	---
TEKT5	146279	broad.mit.edu	37	16	10770015	10770015	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr16:10770015G>C	ENST00000283025.2	-	5	958	c.887C>G	c.(886-888)gCc>gGc	p.A296G		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	296						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.A296G(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						ACTGAACTTGGCCCAGGTCTC	0.552																																						uc002czz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(886-888)GCC>GGC		tektin 5							107.0	91.0	96.0					16																	10770015		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10770015G>C		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.887C>G	16.37:g.10770015G>C	ENSP00000283025:p.Ala296Gly						p.A296G	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			5	959	-			296					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.887C>G	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364252	0.61513	.	.	ENSG00000153060	ENST00000283025	T	0.02709	4.19	5.01	4.05	0.47172	.	0.106321	0.41500	D	0.000868	T	0.08044	0.0201	M	0.84219	2.685	0.47547	D	0.999456	B	0.18013	0.025	B	0.32149	0.141	T	0.02179	-1.1200	10	0.62326	D	0.03	-18.4327	12.4274	0.55556	0.0831:0.0:0.9168:0.0	.	296	Q96M29	TEKT5_HUMAN	G	296	ENSP00000283025:A296G	ENSP00000283025:A296G	A	-	2	0	TEKT5	10677516	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.995000	0.93534	1.246000	0.43901	0.563000	0.77884	GCC		PASS	0.552	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		18	55	18	55	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20430718	20430718	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr16:20430718G>T	ENST00000331849.4	+	4	731	c.584G>T	c.(583-585)aGc>aTc	p.S195I	ACSM5_ENST00000575584.1_Missense_Mutation_p.S195I	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	195					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S195I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTGTCAGACAGCAGTCGGCCA	0.537																																						uc002dhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(583-585)AGC>ATC		acyl-CoA synthetase medium-chain family member 5							51.0	48.0	49.0					16																	20430718		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20430718G>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.584G>T	16.37:g.20430718G>T	ENSP00000327916:p.Ser195Ile					ACSM5_uc002dhd.1_Missense_Mutation_p.S195I	p.S195I	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			4	731	+			195					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.584G>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435049	0.25813	.	.	ENSG00000183549	ENST00000331849	T	0.37235	1.21	4.65	-4.05	0.03998	AMP-dependent synthetase/ligase (1);	0.736452	0.13057	N	0.417184	T	0.21307	0.0513	L	0.31476	0.935	0.09310	N	1	B	0.28178	0.202	B	0.35073	0.195	T	0.27536	-1.0071	10	0.51188	T	0.08	-0.2168	1.5582	0.02589	0.3566:0.2086:0.3198:0.115	.	195	Q6NUN0	ACSM5_HUMAN	I	195	ENSP00000327916:S195I	ENSP00000327916:S195I	S	+	2	0	ACSM5	20338219	0.000000	0.05858	0.000000	0.03702	0.772000	0.43724	0.522000	0.22909	-0.812000	0.04363	-0.142000	0.14014	AGC		PASS	0.537	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		18	62	18	62	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20491959	20491959	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr16:20491959T>C	ENST00000573854.1	+	11	1460	c.1346T>C	c.(1345-1347)aTc>aCc	p.I449T	ACSM2A_ENST00000536134.1_Missense_Mutation_p.I221T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.I449T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.I449T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.I449T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.I370T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	449					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.I449T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GACCGGGGAATCAAAGATGAA	0.502																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(1345-1347)ATC>ACC		acyl-CoA synthetase medium-chain family member							60.0	58.0	59.0					16																	20491959		2201	4296	6497	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491959T>C	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1346T>C	16.37:g.20491959T>C	ENSP00000459451:p.Ile449Thr					ACSM2A_uc010vax.1_Missense_Mutation_p.I370T|ACSM2A_uc002dhf.3_Missense_Mutation_p.I449T|ACSM2A_uc002dhg.3_Missense_Mutation_p.I449T|ACSM2A_uc010vay.1_Missense_Mutation_p.I370T|ACSM2A_uc002dhh.3_Missense_Mutation_p.I79T	p.I449T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			12	1585	+			449					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1346T>C	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	T	4.035	0.003973	0.07866	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	3.16	2.04	0.26737	AMP-dependent synthetase/ligase (1);	0.330202	0.21465	N	0.074085	T	0.25269	0.0614	N	0.16098	0.37	0.80722	D	1	B;B	0.19706	0.038;0.038	B;B	0.32211	0.142;0.142	T	0.04216	-1.0968	10	0.22706	T	0.39	-5.9118	7.7131	0.28690	0.0:0.1085:0.0:0.8915	.	370;449	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	370;449;221;449	ENSP00000392169:I370T;ENSP00000219054:I449T;ENSP00000445082:I221T;ENSP00000379411:I449T	ENSP00000219054:I449T	I	+	2	0	ACSM2A	20399460	0.000000	0.05858	0.951000	0.38953	0.420000	0.31355	-0.485000	0.06520	0.275000	0.22094	0.240000	0.17902	ATC		PASS	0.502	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		31	96	31	96	---	---	---	---
EEF2K	29904	broad.mit.edu	37	16	22291592	22291592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr16:22291592G>T	ENST00000263026.5	+	17	2437	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	655					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.E655*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGAGGGCGGTGAGTACGACGG	0.607																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1963-1965)GAG>TAG		elongation factor-2 kinase							107.0	82.0	90.0					16																	22291592		2197	4300	6497	SO:0001587	stop_gained	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22291592G>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1963G>T	16.37:g.22291592G>T	ENSP00000263026:p.Glu655*					EEF2K_uc002dkh.2_RNA	p.E655*	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	17	2448	+			655					Q8N588	Nonsense_Mutation	SNP	ENST00000263026.5	37	c.1963G>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	40	7.992702	0.98599	.	.	ENSG00000103319	ENST00000263026	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.682	19.563	0.95380	0.0:0.0:1.0:0.0	.	.	.	.	X	655	.	ENSP00000263026:E655X	E	+	1	0	EEF2K	22199093	1.000000	0.71417	0.809000	0.32408	0.023000	0.10783	9.439000	0.97543	2.630000	0.89119	0.561000	0.74099	GAG		PASS	0.607	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		18	49	18	49	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24801959	24801959	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr16:24801959A>G	ENST00000395799.3	+	6	2125	c.1996A>G	c.(1996-1998)Aca>Gca	p.T666A	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T666A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	666	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T666A(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTGGGCCAAAACAGGAGGTAC	0.458																																						uc002dmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1996-1998)ACA>GCA		trinucleotide repeat containing 6A							90.0	81.0	84.0					16																	24801959		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801959A>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1996A>G	16.37:g.24801959A>G	ENSP00000379144:p.Thr666Ala					TNRC6A_uc010bxs.2_Missense_Mutation_p.T413A|TNRC6A_uc010vcc.1_Missense_Mutation_p.T413A|TNRC6A_uc002dmn.2_Missense_Mutation_p.T413A|TNRC6A_uc002dmo.2_Missense_Mutation_p.T413A	p.T666A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2110	+			666			Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1996A>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	6.066	0.380461	0.11466	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.10192	2.9;2.9	5.46	1.93	0.25924	.	0.198278	0.44483	N	0.000441	T	0.05547	0.0146	N	0.24115	0.695	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.002;0.001	T	0.33803	-0.9854	10	0.02654	T	1	-0.6433	9.1879	0.37182	0.709:0.0:0.291:0.0	.	413;666;666	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	A	666	ENSP00000326900:T666A;ENSP00000379144:T666A	ENSP00000326900:T666A	T	+	1	0	TNRC6A	24709460	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.788000	0.26872	0.381000	0.24851	0.455000	0.32223	ACA		PASS	0.458	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		19	55	19	55	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5424256	5424256	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr17:5424256C>T	ENST00000572272.1	-	14	3859	c.3860G>A	c.(3859-3861)gGc>gAc	p.G1287D	NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.G1291D|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.G1257D			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1287					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)	p.G1287D(2)|p.G1291D(1)		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)				GTAACGACAGCCCATATAAAG	0.498																																						uc002gci.2																			3	Substitution - Missense(3)		lung(3)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(3859-3861)GGC>GAC		NLR family, pyrin domain containing 1 isoform 1							84.0	72.0	76.0					17																	5424256		2203	4300	6503	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.chr17:5424256C>T	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.3860G>A	17.37:g.5424256C>T	ENSP00000460475:p.Gly1287Asp					NLRP1_uc002gcg.1_Missense_Mutation_p.G1291D|NLRP1_uc002gck.2_Intron|NLRP1_uc002gcj.2_Missense_Mutation_p.G1257D|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Intron	p.G1287D	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			14	4415	-		Colorectal(1115;3.48e-05)	1287					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.3860G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075573	0.55646	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T;T	0.42900	0.96;0.96;2.27;0.96	4.59	3.62	0.41486	.	0.000000	0.39544	N	0.001337	T	0.60314	0.2259	M	0.73598	2.24	0.23449	N	0.997657	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51419	-0.8708	10	0.87932	D	0	.	8.7769	0.34767	0.0:0.8965:0.0:0.1035	.	1257;1287;1291	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	D	1291;1291;1287;1257	ENSP00000442029:G1291D;ENSP00000262467:G1291D;ENSP00000269280:G1287D;ENSP00000346390:G1257D	ENSP00000262467:G1291D	G	-	2	0	NLRP1	5364980	0.999000	0.42202	0.026000	0.17262	0.011000	0.07611	3.327000	0.52045	1.303000	0.44873	0.644000	0.83932	GGC		PASS	0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		12	15	12	15	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr17:7578239C>A	ENST00000269305.4	-	6	799	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*	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	204	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCCAAATACTCCACACGCAAA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		63	Substitution - Nonsense(39)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Missense(3)|Complex - compound substitution(2)|Deletion - In frame(1)	p.E204*(23)|p.0?(7)|p.E204fs*5(3)|p.E204G(2)|p.E204E(2)|p.E204K(2)|p.E204fs*43(2)|p.K164_P219del(1)|p.E204Q(1)|p.E204D(1)|p.E204fs*4(1)|p.E204A(1)|p.V203_E204>V*(1)|p.E204V(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)	lung(15)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|NS(5)|breast(4)|bone(4)|oesophagus(3)|ovary(3)|central_nervous_system(2)|stomach(1)|liver(1)|urinary_tract(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(610-612)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							133.0	118.0	123.0					17																	7578239		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578239C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.610G>T	17.37:g.7578239C>A	ENSP00000269305:p.Glu204*	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_Nonsense_Mutation_p.E204*|TP53_uc002gih.2_Nonsense_Mutation_p.E204*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E72*|TP53_uc010cng.1_Nonsense_Mutation_p.E72*|TP53_uc002gii.1_Nonsense_Mutation_p.E72*|TP53_uc010cnh.1_Nonsense_Mutation_p.E204*|TP53_uc010cni.1_Nonsense_Mutation_p.E204*|TP53_uc002gij.2_Nonsense_Mutation_p.E204*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E111*|TP53_uc002gio.2_Nonsense_Mutation_p.E72*|TP53_uc010vug.1_Nonsense_Mutation_p.E165*	p.E204*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	804	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	204		E -> A (in sporadic cancers; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.610G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489037	0.44249	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	-0.604	0.11626	.	0.445020	0.26082	N	0.026458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.2849	1.4244	0.02320	0.133:0.2829:0.3261:0.258	.	.	.	.	X	204;204;204;204;204;204;193;111;72;111;72	.	ENSP00000269305:E204X	E	-	1	0	TP53	7518964	0.600000	0.26899	0.018000	0.16275	0.030000	0.12068	0.945000	0.29056	-0.004000	0.14419	0.655000	0.94253	GAG		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	43	17	43	---	---	---	---
DHRS7C	201140	broad.mit.edu	37	17	9684839	9684839	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr17:9684839T>C	ENST00000330255.5	-	2	239	c.227A>G	c.(226-228)aAc>aGc	p.N76S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.N76S	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	76					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.N76S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATCATATAGGTTCTCTAGCCT	0.562																																						uc010vvb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)AAC>AGC		dehydrogenase/reductase (SDR family) member 7C							83.0	90.0	88.0					17																	9684839		2023	4182	6205	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9684839T>C		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.227A>G	17.37:g.9684839T>C	ENSP00000327975:p.Asn76Ser					DHRS7C_uc010cof.2_Missense_Mutation_p.N76S	p.N76S	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN			2	227	-			76					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.227A>G	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	T	0.176	-1.066945	0.01934	.	.	ENSG00000184544	ENST00000330255	D	0.87029	-2.2	5.04	-10.1	0.00402	NAD(P)-binding domain (1);	0.791391	0.11939	N	0.514949	T	0.55768	0.1941	N	0.03209	-0.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58081	-0.7699	10	0.12766	T	0.61	.	0.2592	0.00216	0.3269:0.262:0.1493:0.2618	.	76;73	A6NNS2;B9EJH3	DRS7C_HUMAN;.	S	76	ENSP00000327975:N76S	ENSP00000327975:N76S	N	-	2	0	DHRS7C	9625564	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.533000	0.06157	-1.985000	0.00984	-0.503000	0.04515	AAC		PASS	0.562	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		13	27	13	27	---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39092695	39092695	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr17:39092695G>A	ENST00000209718.3	-	2	585	c.161C>T	c.(160-162)cCc>cTc	p.P54L	KRT23_ENST00000436344.3_Intron|KRT23_ENST00000582283.1_5'Flank|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	54	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.P54L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CCCTCCAGGGGGTGGGCAGCT	0.682																																						uc002hvm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)CCC>CTC		keratin 23							50.0	56.0	54.0					17																	39092695		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092695G>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.161C>T	17.37:g.39092695G>A	ENSP00000209718:p.Pro54Leu					KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.P54L|KRT23_uc002hvn.1_Missense_Mutation_p.P54L	p.P54L	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			2	750	-		Breast(137;0.000301)|Ovarian(249;0.15)	54			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.161C>T	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.363296	0.01235	.	.	ENSG00000108244	ENST00000209718	D	0.81739	-1.53	5.4	2.25	0.28309	.	0.404636	0.20735	N	0.086648	T	0.59293	0.2183	N	0.14661	0.345	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.38415	-0.9662	10	0.10902	T	0.67	.	7.1579	0.25647	0.1503:0.1403:0.7094:0.0	.	54	Q9C075	K1C23_HUMAN	L	54	ENSP00000209718:P54L	ENSP00000209718:P54L	P	-	2	0	KRT23	36346221	0.162000	0.22906	0.019000	0.16419	0.042000	0.13812	2.405000	0.44548	0.327000	0.23409	0.557000	0.71058	CCC		PASS	0.682	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			44	74	44	74	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75190993	75190993	+	Splice_Site	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr17:75190993G>A	ENST00000413679.2	+	7	1012	c.709G>A	c.(709-711)Gac>Aac	p.D237N	SEC14L1_ENST00000443798.4_Splice_Site_p.D237N|SEC14L1_ENST00000392476.2_Splice_Site_p.D237N|SEC14L1_ENST00000436233.4_Splice_Site_p.D237N|SEC14L1_ENST00000431431.2_Splice_Site_p.D203N|SEC14L1_ENST00000585618.1_Splice_Site_p.D237N|SEC14L1_ENST00000430767.4_Splice_Site_p.D237N|SEC14L1_ENST00000591437.1_Splice_Site_p.D203N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	237					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D237N(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CACCCCTGACGGTGGGTCTGG	0.632																																						uc002jto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(709-711)GAC>AAC		SEC14 (S. cerevisiae)-like 1 isoform a							36.0	37.0	36.0					17																	75190993		2202	4300	6502	SO:0001630	splice_region_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75190993G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.709+1G>A	17.37:g.75190993G>A						SEC14L1_uc010dhc.2_Missense_Mutation_p.D237N|SEC14L1_uc010wth.1_Missense_Mutation_p.D237N|SEC14L1_uc002jtm.2_Missense_Mutation_p.D237N|SEC14L1_uc010wti.1_Missense_Mutation_p.D203N	p.D237N	NM_003003	NP_002994	Q92503	S14L1_HUMAN			7	976	+			237					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.709G>A	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187804	0.57909	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.71461	-0.45;-0.45;-0.45;-0.45;-0.45;-0.57	5.7	5.7	0.88788	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	L	0.41415	1.275	0.80722	D	1	B;B	0.24651	0.108;0.065	B;B	0.18561	0.022;0.016	T	0.58053	-0.7704	10	0.29301	T	0.29	-36.7578	18.8311	0.92139	0.0:0.0:1.0:0.0	.	237;237	Q92503-2;Q92503	.;S14L1_HUMAN	N	237;237;237;237;237;203	ENSP00000376268:D237N;ENSP00000406030:D237N;ENSP00000390392:D237N;ENSP00000408169:D237N;ENSP00000394716:D237N;ENSP00000389838:D203N	ENSP00000376268:D237N	D	+	1	0	SEC14L1	72702588	1.000000	0.71417	0.770000	0.31555	0.192000	0.23643	8.730000	0.91510	2.679000	0.91253	0.655000	0.94253	GAC		PASS	0.632	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	Missense_Mutation	34	113	34	113	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12353077	12353077	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr18:12353077C>G	ENST00000269143.3	-	10	1476	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	415					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.K415N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTCTTCCTCTCTTCCTTCCCA	0.502																																						uc002kqz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1243-1245)AAG>AAC		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						218.0	166.0	184.0					18																	12353077		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12353077C>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1245G>C	18.37:g.12353077C>G	ENSP00000269143:p.Lys415Asn						p.K415N	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			10	1358	-			415					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1245G>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270318	0.59540	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.79247	-1.25	5.14	2.35	0.29111	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	N	0.20445	0.575	0.58432	D	0.999999	D	0.57899	0.981	P	0.62740	0.906	T	0.73059	-0.4102	10	0.52906	T	0.07	.	8.3497	0.32295	0.0:0.6958:0.0:0.3042	.	415	Q9Y4W6	AFG32_HUMAN	N	415;430	ENSP00000269143:K415N	ENSP00000269143:K415N	K	-	3	2	AFG3L2	12343077	0.996000	0.38824	0.988000	0.46212	0.827000	0.46813	0.958000	0.29227	0.687000	0.31509	0.650000	0.86243	AAG		PASS	0.502	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		40	174	40	174	---	---	---	---
B4GALT6	9331	broad.mit.edu	37	18	29246305	29246305	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr18:29246305C>G	ENST00000306851.5	-	2	442	c.146G>C	c.(145-147)cGa>cCa	p.R49P	B4GALT6_ENST00000383131.3_Missense_Mutation_p.R49P|B4GALT6_ENST00000237019.7_Intron|RNU6-1002P_ENST00000516570.1_RNA	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	49					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.R49P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CATTATACCTCGAGCTTGTAC	0.313																																						uc002kwz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)CGA>CCA		beta-1,4-galactosyltransferase 6							186.0	148.0	161.0					18																	29246305		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29246305C>G	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.146G>C	18.37:g.29246305C>G	ENSP00000306459:p.Arg49Pro					B4GALT6_uc010dma.2_Intron|B4GALT6_uc010dmb.2_Missense_Mutation_p.R49P	p.R49P	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		2	443	-			49			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.146G>C	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252911	0.80135	.	.	ENSG00000118276	ENST00000306851;ENST00000383131	T;T	0.54479	0.98;0.57	5.54	5.54	0.83059	.	0.094610	0.46758	D	0.000264	T	0.57489	0.2057	L	0.46157	1.445	0.45690	D	0.9986	P;P	0.50819	0.939;0.939	P;P	0.52481	0.7;0.7	T	0.59521	-0.7439	10	0.72032	D	0.01	-8.047	13.1084	0.59259	0.0:0.9263:0.0:0.0736	.	49;49	Q6NT09;Q9UBX8	.;B4GT6_HUMAN	P	49	ENSP00000306459:R49P;ENSP00000372613:R49P	ENSP00000306459:R49P	R	-	2	0	B4GALT6	27500303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.408000	0.66368	2.771000	0.95319	0.655000	0.94253	CGA		PASS	0.313	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		45	148	45	148	---	---	---	---
DIRAS1	148252	broad.mit.edu	37	19	2717450	2717450	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:2717450C>T	ENST00000323469.4	-	2	538	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V119M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	119					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V119M(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTTGCCCACGAGCATCACG	0.637																																						uc002lwf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)GTG>ATG		DIRAS family, GTP-binding RAS-like 1							70.0	57.0	62.0					19																	2717450		2202	4300	6502	SO:0001583	missense	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717450C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.355G>A	19.37:g.2717450C>T	ENSP00000325836:p.Val119Met						p.V119M	NM_145173	NP_660156	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	513	-			119						Missense_Mutation	SNP	ENST00000323469.4	37	c.355G>A	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412604	0.83340	.	.	ENSG00000176490	ENST00000323469	D	0.82619	-1.63	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92107	0.7498	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93746	0.7054	10	0.87932	D	0	.	14.0762	0.64891	0.0:1.0:0.0:0.0	.	119	O95057	DIRA1_HUMAN	M	119	ENSP00000325836:V119M	ENSP00000325836:V119M	V	-	1	0	DIRAS1	2668450	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.539000	0.82063	1.898000	0.54952	0.549000	0.68633	GTG		PASS	0.637	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			17	28	17	28	---	---	---	---
CELF5	60680	broad.mit.edu	37	19	3293414	3293414	+	Silent	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:3293414G>A	ENST00000292672.2	+	12	1465	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	CELF5_ENST00000541430.2_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	476	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K476K(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCCAGCTGAAGCGGCCCAAAG	0.677																																						uc002lxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1426-1428)AAG>AAA		bruno-like 5, RNA binding protein							85.0	77.0	79.0					19																	3293414		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3293414G>A	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1428G>A	19.37:g.3293414G>A						CELF5_uc002lxl.1_3'UTR|CELF5_uc010dtj.1_3'UTR|CELF5_uc010xhg.1_3'UTR|CELF5_uc002lxn.2_RNA	p.K476K	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			12	1465	+			476			RRM 3.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.1428G>A	CCDS12106.1																																																																																				PASS	0.677	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		13	30	13	30	---	---	---	---
FUT5	2527	broad.mit.edu	37	19	5867442	5867442	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:5867442G>C	ENST00000588525.1	-	2	382	c.295C>G	c.(295-297)Ccc>Gcc	p.P99A	FUT5_ENST00000252675.5_Missense_Mutation_p.P99A	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	99					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.P99A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCGCGCCGGGCACCATCTCT	0.632																																						uc002mdo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)CCC>GCC		fucosyltransferase 5							56.0	54.0	55.0					19																	5867442		2203	4300	6503	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867442G>C		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.295C>G	19.37:g.5867442G>C	ENSP00000466880:p.Pro99Ala					FUT5_uc010duo.2_Missense_Mutation_p.P99A	p.P99A	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	383	-			99			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.295C>G	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891171	0.17613	.	.	ENSG00000130383	ENST00000252675	T	0.25579	1.79	2.09	0.805	0.18703	.	0.512144	0.16959	U	0.192577	T	0.37348	0.1000	M	0.79475	2.455	0.09310	N	1	D	0.67145	0.996	D	0.65323	0.934	T	0.27971	-1.0058	10	0.17369	T	0.5	.	2.3064	0.04175	0.1914:0.0:0.5098:0.2988	.	99	Q11128	FUT5_HUMAN	A	99	ENSP00000252675:P99A	ENSP00000252675:P99A	P	-	1	0	FUT5	5818442	.	.	0.006000	0.13384	0.054000	0.15201	.	.	1.155000	0.42497	0.407000	0.27541	CCC		PASS	0.632	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		17	53	17	53	---	---	---	---
KHSRP	8570	broad.mit.edu	37	19	6420434	6420434	+	Splice_Site	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:6420434C>A	ENST00000398148.3	-	5	566	c.474G>T	c.(472-474)ctG>ctT	p.L158L		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	158	Gly-rich.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.L158L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CACACTCACTCAGGCCCACCA	0.597																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(472-474)CTG>CTT		KH-type splicing regulatory protein							54.0	60.0	58.0					19																	6420434		2034	4189	6223	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6420434C>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.475+1G>T	19.37:g.6420434C>A							p.L158L	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			5	584	-			158			Gly-rich.|KH 1.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.474G>T	CCDS45936.1																																																																																				PASS	0.597	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Silent	10	26	10	26	---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764312	9764312	+	Silent	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:9764312G>C	ENST00000448622.1	-	6	756	c.594C>G	c.(592-594)ctC>ctG	p.L198L	ZNF562_ENST00000590155.1_Silent_p.L197L|ZNF562_ENST00000293648.4_Silent_p.L126L|ZNF562_ENST00000453792.2_Silent_p.L129L|ZNF562_ENST00000541032.1_Silent_p.L161L|ZNF562_ENST00000537617.1_Silent_p.L82L|ZNF562_ENST00000453372.2_Silent_p.L198L	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L198L(1)|p.L126L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GTCTTCCATTGAGAATTTCAA	0.398																																						uc010xks.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(592-594)CTC>CTG		zinc finger protein 562 isoform a							83.0	75.0	78.0					19																	9764312		2203	4300	6503	SO:0001819	synonymous_variant	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764312G>C	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.594C>G	19.37:g.9764312G>C						ZNF562_uc002mly.2_Silent_p.L198L|ZNF562_uc002mlx.2_Silent_p.L126L|ZNF562_uc010xkt.1_Silent_p.L161L|ZNF562_uc010xku.1_Silent_p.L129L|ZNF562_uc010xkv.1_Silent_p.L197L|ZNF562_uc010xkw.1_Silent_p.L82L	p.L198L	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			6	757	-			198			C2H2-type 1; degenerate.		Q32MN2|Q9NXS5	Silent	SNP	ENST00000448622.1	37	c.594C>G	CCDS45956.1																																																																																				PASS	0.398	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		30	116	30	116	---	---	---	---
KCNN1	3780	broad.mit.edu	37	19	18085079	18085079	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:18085079T>C	ENST00000222249.9	+	3	701	c.382T>C	c.(382-384)Tcc>Ccc	p.S128P	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	128					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.S145P(2)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	GACCGAGCTGTCCTGGGGGGT	0.632																																						uc002nht.2																			2	Substitution - Missense(2)		lung(2)		0						c.(382-384)TCC>CCC		potassium intermediate/small conductance							34.0	39.0	37.0					19																	18085079		2083	4223	6306	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18085079T>C	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.382T>C	19.37:g.18085079T>C	ENSP00000476519:p.Ser128Pro					KCNN1_uc010xqa.1_Missense_Mutation_p.S128P	p.S128P	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			3	692	+			128			Helical; Name=Segment S1; (Potential).		Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.382T>C		.	.	.	.	.	.	.	.	.	.	T	17.04	3.287121	0.59867	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.27	4.27	0.50696	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	M	0.87180	2.865	0.53005	D	0.999965	D	0.76494	0.999	D	0.79108	0.992	T	0.83178	-0.0090	9	0.87932	D	0	-35.3756	11.383	0.49768	0.0:0.0:0.0:1.0	.	128	Q92952	KCNN1_HUMAN	P	145;128	.	ENSP00000222249:S145P	S	+	1	0	KCNN1	17946079	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	5.933000	0.70130	1.803000	0.52742	0.402000	0.26972	TCC		PASS	0.632	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		16	45	16	45	---	---	---	---
TM6SF2	53345	broad.mit.edu	37	19	19375667	19375667	+	Missense_Mutation	SNP	T	T	C	rs368032431		TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:19375667T>C	ENST00000389363.4	-	10	1012	c.940A>G	c.(940-942)Atg>Gtg	p.M314V	AC138430.4_ENST00000586064.2_RNA|HAPLN4_ENST00000291481.7_5'Flank	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	314						integral component of membrane (GO:0016021)		p.M314V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GAAGCCCCCATGTGCGAGAAC	0.607													T|||	1	0.000199681	0.0	0.0	5008	,	,		17279	0.0		0.0	False		,,,				2504	0.001					uc002nmd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)ATG>GTG		transmembrane 6 superfamily member 2							63.0	71.0	68.0					19																	19375667		2139	4227	6366	SO:0001583	missense	53345					integral to membrane		g.chr19:19375667T>C	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.940A>G	19.37:g.19375667T>C	ENSP00000374014:p.Met314Val					HAPLN4_uc002nmb.2_5'Flank|HAPLN4_uc002nmc.2_Intron	p.M314V	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		10	990	-			314					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.940A>G	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.614004	0.28712	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.20738	2.05	4.95	3.93	0.45458	.	0.216664	0.29676	U	0.011496	T	0.18383	0.0441	L	0.51422	1.61	0.38447	D	0.946865	B	0.06786	0.001	B	0.08055	0.003	T	0.06481	-1.0824	10	0.59425	D	0.04	-17.2838	6.5348	0.22346	0.0:0.0851:0.1559:0.759	.	314	Q9BZW4	TM6S2_HUMAN	V	314	ENSP00000374014:M314V	ENSP00000269990:M314V	M	-	1	0	TM6SF2	19236667	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.827000	0.27421	0.846000	0.35142	0.459000	0.35465	ATG		PASS	0.607	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		17	48	17	48	---	---	---	---
APOC2	344	broad.mit.edu	37	19	45452030	45452030	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:45452030C>G	ENST00000590360.1	+	3	250	c.128C>G	c.(127-129)tCt>tGt	p.S43C	APOC4_ENST00000419266.2_3'UTR|APOC2_ENST00000591597.1_Missense_Mutation_p.S43C|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.S120C|APOC2_ENST00000585786.1_Missense_Mutation_p.S43C|APOC2_ENST00000252490.4_Missense_Mutation_p.S43C|APOC2_ENST00000592257.1_Missense_Mutation_p.I22M			P02655	APOC2_HUMAN	apolipoprotein C-II	43	Lipid binding.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.S43C(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GTGAAGGAATCTCTCTCCAGT	0.582																																						uc002pah.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(127-129)TCT>TGT		apolipoprotein C-II precursor							101.0	105.0	104.0					19																	45452030		2203	4300	6503	SO:0001583	missense	344				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity	g.chr19:45452030C>G	X00568	CCDS12650.1	19q13.2	2013-01-24			ENSG00000234906	ENSG00000234906		"""Apolipoproteins"""	609	protein-coding gene	gene with protein product		608083					Standard	NM_000483		Approved			P02655	OTTHUMG00000180847	ENST00000590360.1:c.128C>G	19.37:g.45452030C>G	ENSP00000466775:p.Ser43Cys						p.S43C	NM_000483	NP_000474	P02655	APOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	231	+	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)	43			Lipid binding.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000590360.1	37	c.128C>G	CCDS12650.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636450	0.47049	.	.	ENSG00000234906	ENST00000252490	D	0.84370	-1.84	3.67	2.6	0.31112	ApoC-II domain (1);	1.864700	0.03550	U	0.225335	D	0.91932	0.7445	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.73610	-0.3928	10	0.66056	D	0.02	-0.7447	9.1415	0.36906	0.2175:0.7825:0.0:0.0	.	43	P02655	APOC2_HUMAN	C	43	ENSP00000252490:S43C	ENSP00000252490:S43C	S	+	2	0	APOC2	50143870	0.002000	0.14202	0.002000	0.10522	0.272000	0.26649	1.172000	0.31908	0.823000	0.34589	0.449000	0.29647	TCT		PASS	0.582	APOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453261.1	NM_000483		41	119	41	119	---	---	---	---
PPP1R15A	23645	broad.mit.edu	37	19	49376765	49376765	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:49376765A>G	ENST00000200453.5	+	2	544	c.275A>G	c.(274-276)gAc>gGc	p.D92G		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	92					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.D92G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTGGAGAGGACAGAGAAACA	0.577																																						uc002pky.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(274-276)GAC>GGC		protein phosphatase 1, regulatory subunit 15A							90.0	80.0	84.0					19																	49376765		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376765A>G	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.275A>G	19.37:g.49376765A>G	ENSP00000200453:p.Asp92Gly						p.D92G	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	544	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	92			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.275A>G	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	A	7.771	0.707433	0.15239	.	.	ENSG00000087074	ENST00000200453;ENST00000544084	T	0.06371	3.31	3.68	0.131	0.14755	.	2.899380	0.01148	N	0.006341	T	0.05640	0.0148	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37267	-0.9713	10	0.40728	T	0.16	0.0042	2.5154	0.04667	0.4485:0.0:0.134:0.4175	.	92	O75807	PR15A_HUMAN	G	92;50	ENSP00000200453:D92G	ENSP00000200453:D92G	D	+	2	0	PPP1R15A	54068577	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.400000	0.20932	-0.042000	0.13535	-0.496000	0.04628	GAC		PASS	0.577	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		26	93	26	93	---	---	---	---
ZNF582	147948	broad.mit.edu	37	19	56896044	56896044	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:56896044C>G	ENST00000301310.4	-	5	900	c.742G>C	c.(742-744)Gtt>Ctt	p.V248L	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.V248L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V248L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCAGTATGAACTCTCTGATGT	0.378																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(742-744)GTT>CTT		zinc finger protein 582							62.0	61.0	61.0					19																	56896044		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896044C>G	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.742G>C	19.37:g.56896044C>G	ENSP00000301310:p.Val248Leu					ZNF582_uc002qmy.2_Missense_Mutation_p.V279L	p.V248L	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	901	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	248			C2H2-type 3.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.742G>C	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	5.850	0.341039	0.11069	.	.	ENSG00000018869	ENST00000301310	T	0.05139	3.49	4.88	0.477	0.16784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32430	N	0.006108	T	0.10078	0.0247	L	0.31926	0.97	0.09310	N	1	P;D	0.57899	0.911;0.981	P;P	0.60117	0.621;0.869	T	0.10268	-1.0637	10	0.48119	T	0.1	.	8.0358	0.30491	0.0:0.5578:0.0:0.4422	.	248;279	Q96NG8;B4DQZ9	ZN582_HUMAN;.	L	248	ENSP00000301310:V248L	ENSP00000301310:V248L	V	-	1	0	ZNF582	61587856	0.000000	0.05858	0.217000	0.23759	0.085000	0.17905	0.552000	0.23376	0.338000	0.23692	-0.136000	0.14681	GTT		PASS	0.378	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		22	94	22	94	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326518	57326518	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:57326518G>T	ENST00000326441.9	-	10	3655	c.3292C>A	c.(3292-3294)Cag>Aag	p.Q1098K	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q1098K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q974K|PEG3_ENST00000593695.1_Missense_Mutation_p.Q972K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1098					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q1098K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATCCTTCTGAGGGTCTTCC	0.517																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3292-3294)CAG>AAG		paternally expressed 3 isoform 1							120.0	115.0	117.0					19																	57326518		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326518G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3292C>A	19.37:g.57326518G>T	ENSP00000326581:p.Gln1098Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q1069K|PEG3_uc002qnv.2_Missense_Mutation_p.Q1098K|PEG3_uc002qnw.2_Missense_Mutation_p.Q974K|PEG3_uc002qnx.2_Missense_Mutation_p.Q972K|PEG3_uc010etr.2_Missense_Mutation_p.Q1098K	p.Q1098K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3643	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1098					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3292C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	2.091	-0.408490	0.04832	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	2.64	1.54	0.23209	.	1.139810	0.06617	N	0.756647	T	0.03959	0.0111	M	0.64997	1.995	.	.	.	P;B;B	0.39480	0.675;0.07;0.329	B;B;B	0.30943	0.092;0.035;0.122	T	0.41161	-0.9524	9	0.31617	T	0.26	-4.9322	9.2816	0.37731	0.0:0.2241:0.7759:0.0	.	974;1098;1033	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1098	ENSP00000326581:Q1098K;ENSP00000403051:Q1098K	ENSP00000326581:Q1098K	Q	-	1	0	ZIM2	62018330	0.002000	0.14202	0.001000	0.08648	0.017000	0.09413	1.210000	0.32370	0.611000	0.30052	0.655000	0.94253	CAG		PASS	0.517	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			64	191	64	191	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640619	57640619	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr19:57640619C>G	ENST00000254181.4	+	4	1030	c.576C>G	c.(574-576)aaC>aaG	p.N192K	USP29_ENST00000598197.1_Missense_Mutation_p.N192K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	192					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.N192K(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGTACCAAACAAGAAATATA	0.368																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(574-576)AAC>AAG		ubiquitin specific peptidase 29							86.0	91.0	89.0					19																	57640619		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640619C>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.576C>G	19.37:g.57640619C>G	ENSP00000254181:p.Asn192Lys						p.N192K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	932	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	192						Missense_Mutation	SNP	ENST00000254181.4	37	c.576C>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	3.186	-0.166908	0.06461	.	.	ENSG00000131864	ENST00000254181	T	0.49720	0.77	2.68	-0.917	0.10485	.	.	.	.	.	T	0.26048	0.0635	N	0.25647	0.755	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.20638	-1.0269	9	0.17369	T	0.5	-0.1441	2.3997	0.04398	0.2489:0.4566:0.0:0.2945	.	192	Q9HBJ7	UBP29_HUMAN	K	192	ENSP00000254181:N192K	ENSP00000254181:N192K	N	+	3	2	USP29	62332431	0.002000	0.14202	0.012000	0.15200	0.006000	0.05464	-0.787000	0.04618	-0.132000	0.11557	-0.216000	0.12614	AAC		PASS	0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			57	135	57	135	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9523233	9523233	+	Splice_Site	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr20:9523233C>T	ENST00000378429.3	-	10	2550	c.2004G>A	c.(2002-2004)aaG>aaA	p.K668K	PAK7_ENST00000378423.1_Splice_Site_p.K668K|PAK7_ENST00000353224.5_Splice_Site_p.K668K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K668K(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGTTTCTCACCTTGTGTAGGT	0.483																																						uc002wnl.2																			1	Substitution - coding silent(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(2002-2004)AAG>AAA		p21-activated kinase 7							146.0	150.0	149.0					20																	9523233		2203	4300	6503	SO:0001630	splice_region_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9523233C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2004+1G>A	20.37:g.9523233C>T						PAK7_uc002wnk.2_Silent_p.K668K|PAK7_uc002wnj.2_Silent_p.K668K|PAK7_uc010gby.1_Intron	p.K668K	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		10	2549	-			668			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.2004G>A	CCDS13107.1																																																																																				PASS	0.483	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		Silent	71	237	71	237	---	---	---	---
SLX4IP	128710	broad.mit.edu	37	20	10603339	10603339	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr20:10603339C>G	ENST00000334534.5	+	8	719	c.539C>G	c.(538-540)aCg>aGg	p.T180R		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	180								p.T180R(1)									AGCAGTGTCACGAGCAAATCG	0.433																																						uc010zre.1																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)ACG>AGG		hypothetical protein LOC128710							61.0	55.0	57.0					20																	10603339		2203	4300	6503	SO:0001583	missense	128710						protein binding	g.chr20:10603339C>G	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.539C>G	20.37:g.10603339C>G	ENSP00000335557:p.Thr180Arg						p.T180R	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			8	719	+			180					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.539C>G	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247068	0.22796	.	.	ENSG00000149346	ENST00000334534	T	0.44083	0.93	5.93	-1.45	0.08828	.	1.053710	0.07349	N	0.882087	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B	0.24823	0.112	B	0.19391	0.025	T	0.19976	-1.0289	10	0.51188	T	0.08	4.6211	0.9384	0.01350	0.2869:0.2406:0.0975:0.375	.	180	Q5VYV7	CT094_HUMAN	R	180	ENSP00000335557:T180R	ENSP00000335557:T180R	T	+	2	0	C20orf94	10551339	0.000000	0.05858	0.017000	0.16124	0.001000	0.01503	-1.182000	0.03082	-0.106000	0.12110	-0.474000	0.04947	ACG		PASS	0.433	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		20	78	20	78	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31671218	31671218	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr20:31671218C>T	ENST00000375483.3	+	3	215	c.215C>T	c.(214-216)cCc>cTc	p.P72L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	72						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.P33L(1)									CGAGGACCCCCCCCAGTATAT	0.488																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)CCC>CTC		antimicrobial peptide RY2G5 precursor							87.0	85.0	86.0					20																	31671218		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671218C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.215C>T	20.37:g.31671218C>T	ENSP00000364632:p.Pro72Leu						p.P72L	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	230	+			72					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.215C>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	c	10.01	1.234145	0.22626	.	.	ENSG00000186191	ENST00000375483	T	0.01838	4.61	2.89	2.89	0.33648	.	0.000000	0.33477	U	0.004873	T	0.05456	0.0144	L	0.29908	0.895	0.21355	N	0.999712	D	0.71674	0.998	D	0.73708	0.981	T	0.15037	-1.0451	10	0.87932	D	0	-7.1223	9.3529	0.38149	0.0:1.0:0.0:0.0	.	72	P59827	BPIB4_HUMAN	L	72	ENSP00000364632:P72L	ENSP00000364632:P72L	P	+	2	0	BPIFB4	31134879	0.769000	0.28531	0.082000	0.20525	0.050000	0.14768	3.146000	0.50631	1.607000	0.50170	0.306000	0.20318	CCC		PASS	0.488	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		59	120	59	120	---	---	---	---
STAU1	6780	broad.mit.edu	37	20	47770589	47770589	+	Silent	SNP	T	T	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chr20:47770589T>C	ENST00000371856.2	-	4	635	c.225A>G	c.(223-225)gtA>gtG	p.V75V	STAU1_ENST00000340954.7_5'UTR|STAU1_ENST00000371792.1_5'UTR|STAU1_ENST00000371828.3_5'UTR|STAU1_ENST00000360426.4_5'UTR|STAU1_ENST00000371802.1_5'UTR|STAU1_ENST00000347458.5_5'UTR	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	75	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.V75V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CATTTAGTTCTACAGTAGGGG	0.368																																						uc002xud.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|kidney(1)	5						c.(223-225)GTA>GTG		staufen isoform b							208.0	187.0	194.0					20																	47770589		2203	4300	6503	SO:0001819	synonymous_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47770589T>C		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.225A>G	20.37:g.47770589T>C						STAU1_uc002xua.2_5'UTR|STAU1_uc002xub.2_5'UTR|STAU1_uc002xuc.2_5'UTR|STAU1_uc002xue.2_5'UTR|STAU1_uc002xuf.2_5'UTR|STAU1_uc002xug.2_Silent_p.V75V	p.V75V	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		4	636	-			75			DRBM 1.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	ENST00000371856.2	37	c.225A>G	CCDS13414.1																																																																																				PASS	0.368	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		64	191	64	191	---	---	---	---
NYX	60506	broad.mit.edu	37	X	41333813	41333813	+	Silent	SNP	C	C	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chrX:41333813C>T	ENST00000342595.2	+	2	1563	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	NYX_ENST00000378220.1_Silent_p.A369A	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	369	LRRCT.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.A369A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GCTCCGTGGCCGGCCTGGACC	0.706																																						uc004dfh.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(1105-1107)GCC>GCT		nyctalopin precursor							15.0	16.0	16.0					X																	41333813		2185	4264	6449	SO:0001819	synonymous_variant	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333813C>T	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1107C>T	X.37:g.41333813C>T						NYX_uc011mku.1_Silent_p.A364A	p.A369A	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			2	1537	+			369			LRRCT.		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.1107C>T	CCDS14256.1																																																																																				PASS	0.706	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		4	2	4	2	---	---	---	---
MAGIX	79917	broad.mit.edu	37	X	49021258	49021258	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chrX:49021258A>T	ENST00000412696.2	+	4	337	c.337A>T	c.(337-339)Agt>Tgt	p.S113C	MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000376338.3_Missense_Mutation_p.S54C|MAGIX_ENST00000376339.1_Missense_Mutation_p.S54C|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	113								p.S113C(1)									TAAGGCACATAGTGCTCCGAA	0.557																																						uc010nin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)AGT>TGT		MAGI family member, X-linked isoform a							112.0	112.0	112.0					X																	49021258		2023	4152	6175	SO:0001583	missense	79917							g.chrX:49021258A>T	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.337A>T	X.37:g.49021258A>T	ENSP00000387928:p.Ser113Cys					MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.S54C|MAGIX_uc004dmw.2_Missense_Mutation_p.S46C	p.S113C	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN			4	384	+			113					A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.337A>T	CCDS48106.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.309452	0.23821	.	.	ENSG00000017621	ENST00000376339;ENST00000412696;ENST00000376338;ENST00000425285	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.66	-9.05	0.00730	PDZ/DHR/GLGF (1);	1.680500	0.03177	N	0.171572	T	0.20210	0.0486	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.15954	-1.0419	10	0.56958	D	0.05	3.8415	3.0502	0.06167	0.2473:0.4501:0.1215:0.1811	.	113;54;54	Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2	MAGIX_HUMAN;.;.	C	54;113;54;59	ENSP00000365517:S54C;ENSP00000387928:S113C;ENSP00000365516:S54C;ENSP00000411713:S59C	ENSP00000365516:S54C	S	+	1	0	MAGIX	48908202	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.793000	0.01755	-1.629000	0.01546	-1.456000	0.01031	AGT		PASS	0.557	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		89	70	89	70	---	---	---	---
AR	367	broad.mit.edu	37	X	66931320	66931320	+	Silent	SNP	G	G	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chrX:66931320G>A	ENST00000374690.3	+	4	2486	c.1962G>A	c.(1960-1962)gaG>gaA	p.E654E	AR_ENST00000396044.3_Silent_p.E654E|AR_ENST00000396043.2_Silent_p.E122E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	653	Interaction with HIPK3. {ECO:0000250}.|Interaction with KAT7.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E654E(1)|p.E464E(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCCCCACTGAGGAGACAACCC	0.507									Androgen Insensitivity Syndrome																													uc004dwu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(1960-1962)GAG>GAA		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						90.0	58.0	69.0					X																	66931320		2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66931320G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1962G>A	X.37:g.66931320G>A						AR_uc004dwv.1_Silent_p.E122E	p.E654E	NM_000044	NP_000035	P10275	ANDR_HUMAN			4	3077	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	653			Interaction with HIPK3 (By similarity).|Interaction with MYST2.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.1962G>A	CCDS14387.1																																																																																				PASS	0.507	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		8	10	8	10	---	---	---	---
PABPC5	140886	broad.mit.edu	37	X	90690734	90690734	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chrX:90690734C>A	ENST00000312600.3	+	2	372	c.158C>A	c.(157-159)cCg>cAg	p.P53Q	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P53Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGCCGTGATCCGGTGACCCGC	0.542																																						uc004efg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(157-159)CCG>CAG		poly(A) binding protein, cytoplasmic 5							38.0	32.0	34.0					X																	90690734		2203	4299	6502	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690734C>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.158C>A	X.37:g.90690734C>A	ENSP00000308012:p.Pro53Gln					PABPC5_uc004eff.1_Intron	p.P53Q	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	598	+			53			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.158C>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	9.685	1.150396	0.21371	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.06449	3.3	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.081189	0.85682	D	0.000000	T	0.03739	0.0106	N	0.16656	0.425	0.39680	D	0.970884	B	0.24768	0.111	B	0.23150	0.044	T	0.48293	-0.9048	10	0.20046	T	0.44	.	7.3356	0.26607	0.0:0.8843:0.0:0.1157	.	53	Q96DU9	PABP5_HUMAN	Q	53;21	ENSP00000308012:P53Q	ENSP00000308012:P53Q	P	+	2	0	PABPC5	90577390	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	5.727000	0.68523	2.450000	0.82876	0.600000	0.82982	CCG		PASS	0.542	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		15	17	15	17	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122613996	122613996	+	Intron	SNP	G	G	C			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chrX:122613996G>C	ENST00000371251.1	+	15	2491				GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.G803R			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.G803R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GTACGATAAGGGGGAATGTGG	0.438																																						uc004etq.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2407-2409)GGG>CGG		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						130.0	105.0	114.0					X																	122613996		2203	4300	6503	SO:0001627	intron_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122613996G>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2440-2654G>C	X.37:g.122613996G>C						GRIA3_uc004etr.3_Intron|GRIA3_uc004ets.3_RNA	p.G803R	NM_007325	NP_015564	P42263	GRIA3_HUMAN			15	2700	+			803			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2407G>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853448	0.71719	.	.	ENSG00000125675	ENST00000371256	T	0.54279	0.58	5.63	5.63	0.86233	.	.	.	.	.	T	0.75155	0.3811	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78481	-0.2187	9	0.87932	D	0	.	17.7881	0.88545	0.0:0.0:1.0:0.0	.	803	P42263-2	.	R	803	ENSP00000360302:G803R	ENSP00000360302:G803R	G	+	1	0	GRIA3	122441677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.506000	0.84524	0.600000	0.82982	GGG		PASS	0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		34	33	34	33	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123514551	123514551	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chrX:123514551C>A	ENST00000371130.3	-	31	8076	c.8013G>T	c.(8011-8013)gaG>gaT	p.E2671D	TENM1_ENST00000422452.2_Missense_Mutation_p.E2678D|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2671					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E2673D(1)									CCCTAATCCCCTCTTCCCCCT	0.517																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(8011-8013)GAG>GAT		odz, odd Oz/ten-m homolog 1 isoform 3							165.0	156.0	159.0					X																	123514551		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123514551C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8013G>T	X.37:g.123514551C>A	ENSP00000360171:p.Glu2671Asp					ODZ1_uc011muj.1_Missense_Mutation_p.E2677D|ODZ1_uc010nqy.2_Missense_Mutation_p.E2678D	p.E2671D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	8077	-			2671			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8013G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741811	0.49151	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86297	-2.1;-2.06	5.73	1.97	0.26223	.	0.161988	0.56097	D	0.000035	T	0.81432	0.4821	M	0.64170	1.965	0.44728	D	0.997728	P;P;P	0.50156	0.665;0.665;0.932	B;B;B	0.39465	0.138;0.157;0.3	T	0.75596	-0.3263	10	0.56958	D	0.05	.	6.1182	0.20137	0.0:0.4461:0.1243:0.4297	.	2677;2678;2671	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	D	2671;2678	ENSP00000360171:E2671D;ENSP00000403954:E2678D	ENSP00000360171:E2671D	E	-	3	2	ODZ1	123342232	0.992000	0.36948	0.979000	0.43373	0.972000	0.66771	0.262000	0.18460	-0.030000	0.13804	-0.276000	0.10085	GAG		PASS	0.517	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		129	113	129	113	---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128946745	128946745	+	Silent	SNP	C	C	A			TCGA-60-2721-01A-01D-1522-08	TCGA-60-2721-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8defff62-9395-47cb-bb19-4b8487d9ea8e	30c3332d-63d9-4c8c-ac66-424e9008f789	g.chrX:128946745C>A	ENST00000357166.6	-	8	1117	c.726G>T	c.(724-726)ctG>ctT	p.L242L	ZDHHC9_ENST00000371064.3_Silent_p.L242L	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	242					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.L242L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GAAATCCAGTCAGTCCCACGA	0.453																																						uc004euv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(724-726)CTG>CTT		zinc finger, DHHC domain containing 9							227.0	185.0	199.0					X																	128946745		2203	4300	6503	SO:0001819	synonymous_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128946745C>A	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.726G>T	X.37:g.128946745C>A						ZDHHC9_uc004euw.2_Silent_p.L242L	p.L242L	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN			7	1095	-			242			Helical; (Potential).		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Silent	SNP	ENST00000357166.6	37	c.726G>T	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	C	9.983	1.228784	0.22542	.	.	ENSG00000188706	ENST00000433917	.	.	.	5.6	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.1258	6.2751	0.20977	0.0:0.5017:0.0:0.4983	.	.	.	.	L	156	.	.	X	-	2	2	ZDHHC9	128774426	0.966000	0.33281	1.000000	0.80357	0.997000	0.91878	0.133000	0.15912	0.549000	0.28973	0.600000	0.82982	TGA		PASS	0.453	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		64	62	64	62	---	---	---	---
