#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
RERE	473	broad.mit.edu	37	1	8420616	8420616	+	Missense_Mutation	SNP	T	T	G	rs369911156		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:8420616T>G	ENST00000337907.3	-	19	3585	c.2951A>C	c.(2950-2952)cAc>cCc	p.H984P	RERE_ENST00000400908.2_Missense_Mutation_p.H984P|RERE_ENST00000377464.1_Missense_Mutation_p.H716P|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.H430P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	984	Pro-rich.			H -> N (in Ref. 2; no nucleotide entry). {ECO:0000305}.	chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTGGGGGGTGAGCCGACGG	0.701																																						uc001ape.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2950-2952)CAC>CCC		atrophin-1 like protein isoform a							13.0	15.0	14.0					1																	8420616		1934	3857	5791	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8420616T>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2951A>C	1.37:g.8420616T>G	ENSP00000338629:p.His984Pro					RERE_uc001apf.2_Missense_Mutation_p.H984P|RERE_uc010nzx.1_Missense_Mutation_p.H716P|RERE_uc001apd.2_Missense_Mutation_p.H430P	p.H984P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	3761	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	984	H -> N (in Ref. 2; no nucleotide entry).		Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.2951A>C	CCDS95.1	.	.	.	.	.	.	.	.	.	.	T	9.564	1.119137	0.20877	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.45668	0.89;0.9;0.89	5.33	4.2	0.49525	.	.	.	.	.	T	0.45216	0.1331	L	0.55103	1.725	0.46774	D	0.999198	P;P	0.42584	0.784;0.586	P;B	0.48368	0.575;0.302	T	0.26467	-1.0102	9	0.36615	T	0.2	-35.8773	10.0171	0.42020	0.0:0.0805:0.0:0.9195	.	716;984	B1AKN3;Q9P2R6	.;RERE_HUMAN	P	984;716;430;984	ENSP00000338629:H984P;ENSP00000366684:H716P;ENSP00000383700:H984P	ENSP00000338629:H984P	H	-	2	0	RERE	8343203	1.000000	0.71417	0.967000	0.41034	0.001000	0.01503	3.526000	0.53509	0.864000	0.35578	-0.314000	0.08810	CAC		0.701	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
CORT	1325	broad.mit.edu	37	1	10511616	10511616	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:10511616G>T	ENST00000377049.3	+	2	787	c.282G>T	c.(280-282)agG>agT	p.R94S	APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000602787.1_Missense_Mutation_p.R153S|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.R153S|APITD1_ENST00000602296.1_3'UTR|APITD1-CORT_ENST00000470413.2_3'UTR|CORT_ENST00000320498.4_Missense_Mutation_p.R144S	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	94					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	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;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		TGCCCTGCAGGAACTTCTTCT	0.567																																						uc001arf.2																			0				ovary(1)	1						c.(457-459)AGG>AGT		apoptosis-inducing, TAF9-like domain 1 isoform							16.0	20.0	19.0					1																	10511616		2203	4299	6502	SO:0001583	missense	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10511616G>T	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.282G>T	1.37:g.10511616G>T	ENSP00000366248:p.Arg94Ser					APITD1_uc001arg.2_3'UTR|CORT_uc001ari.2_Missense_Mutation_p.R144S	p.R153S	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	875	+	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)	Error:Variant_position_missing_in_Q8N2Z9_after_alignment					Q5T6G0|Q6UX11	Missense_Mutation	SNP	ENST00000377049.3	37	c.459G>T	CCDS117.2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714620	0.48622	.	.	ENSG00000175279;ENSG00000251503;ENSG00000241563;ENSG00000241563	ENST00000556104;ENST00000400900;ENST00000377049;ENST00000320498	.	.	.	5.68	2.77	0.32553	Somatostatin/Cortistatin, C-terminal (1);	0.402258	0.21055	N	0.080929	T	0.18257	0.0438	N	0.08118	0	0.22926	N	0.998551	B;B	0.23128	0.08;0.013	B;B	0.26202	0.067;0.037	T	0.18335	-1.0340	9	0.87932	D	0	-7.0951	5.7918	0.18365	0.162:0.0:0.6821:0.1559	.	94;153	O00230;Q8N2Z9-2	CORT_HUMAN;.	S	153;153;94;144	.	ENSP00000383692:R153S	R	+	3	2	APITD1-CORT;APITD1;CORT	10434203	1.000000	0.71417	0.524000	0.27887	0.817000	0.46193	1.041000	0.30291	0.327000	0.23409	0.655000	0.94253	AGG		0.567	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302	
RSPO1	284654	broad.mit.edu	37	1	38082340	38082340	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:38082340G>A	ENST00000401069.1	-	4	814	c.102C>T	c.(100-102)gcC>gcT	p.A34A	RSPO1_ENST00000356545.2_Silent_p.A34A|RSPO1_ENST00000401068.1_Silent_p.A34A|RSPO1_ENST00000401070.1_Silent_p.A34A|RSPO1_ENST00000373059.1_Silent_p.A7A|RSPO1_ENST00000401071.2_Silent_p.A34A	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	34					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTCGGCACTGACTG	0.557																																					GBM(122;680 2230 27822 42821)	uc001cbl.1																			0					0						c.(100-102)GCC>GCT		R-spondin1 precursor							53.0	54.0	54.0					1																	38082340		2021	4176	6197	SO:0001819	synonymous_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082340G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.102C>T	1.37:g.38082340G>A						RSPO1_uc001cbm.1_Silent_p.A34A|RSPO1_uc009vvf.1_Silent_p.A7A|RSPO1_uc009vvg.1_Silent_p.A34A	p.A34A	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN			5	890	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	34			FU 1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	c.102C>T	CCDS41304.1																																																																																				0.557	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640	
RPL5	6125	broad.mit.edu	37	1	93301897	93301898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:93301897_93301898insT	ENST00000370321.3	+	5	565_566	c.475_476insT	c.(475-477)gttfs	p.V159fs	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	159					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCAATAAAGTTTTTGGTGCC	0.495																																						uc001doz.2																			0					0						c.(475-477)GTTfs		ribosomal protein L5																																				SO:0001589	frameshift_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301897_93301898insT	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.480dupT	1.37:g.93301902_93301902dupT	ENSP00000359345:p.Val159fs					FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank	p.V159fs	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	553_554	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	159					Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Ins	INS	ENST00000370321.3	37	c.475_476insT	CCDS741.1																																																																																				0.495	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	
HIPK1	204851	broad.mit.edu	37	1	114515777	114515777	+	Silent	SNP	G	G	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:114515777G>T	ENST00000369558.1	+	16	3508	c.3276G>T	c.(3274-3276)tcG>tcT	p.S1092S	HIPK1_ENST00000369554.2_Silent_p.S1047S|HIPK1_ENST00000340480.4_Silent_p.S718S|HIPK1_ENST00000406344.1_Silent_p.S698S|HIPK1_ENST00000369561.4_Silent_p.S1058S|HIPK1_ENST00000426820.2_Silent_p.S1092S|HIPK1_ENST00000369555.2_Silent_p.S1047S|HIPK1_ENST00000369553.1_Silent_p.S698S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1092	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTACACTCGACAGGGCACC	0.647																																						uc001eem.2																			0				ovary(4)	4						c.(3274-3276)TCG>TCT		homeodomain-interacting protein kinase 1 isoform							99.0	103.0	102.0					1																	114515777		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515777G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3276G>T	1.37:g.114515777G>T						HIPK1_uc001een.2_Silent_p.S1092S|HIPK1_uc001eeo.2_Silent_p.S718S|HIPK1_uc001eep.2_Silent_p.S698S|HIPK1_uc001eeq.2_Silent_p.S384S	p.S1092S	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3437	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1092			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.3276G>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	5.251	0.231720	0.09969	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.29	-0.142	0.13448	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23797	-1.0178	4	.	.	.	.	0.9584	0.01390	0.3563:0.151:0.3373:0.1554	.	.	.	.	Y	373	.	.	D	+	1	0	HIPK1	114317300	0.567000	0.26626	0.995000	0.50966	0.934000	0.57294	-0.563000	0.05943	0.089000	0.17243	-0.794000	0.03295	GAC		0.647	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
CD2	914	broad.mit.edu	37	1	117311264	117311264	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:117311264G>A	ENST00000369478.3	+	5	1023	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	305	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCGTGTTCAGCACCAGCCTC	0.622																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.3																			0				breast(1)	1						c.(913-915)CAG>CAA		CD2 molecule precursor	Alefacept(DB00092)						90.0	78.0	82.0					1																	117311264		2203	4300	6503	SO:0001819	synonymous_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117311264G>A	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.915G>A	1.37:g.117311264G>A							p.Q305Q	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	5	944	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	305			Cytoplasmic (Potential).|Pro-rich.		Q96TE5	Silent	SNP	ENST00000369478.3	37	c.915G>A	CCDS889.1																																																																																				0.622	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767	
TCHH	7062	broad.mit.edu	37	1	152084995	152084995	+	Missense_Mutation	SNP	C	C	T	rs370869272		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:152084995C>T	ENST00000368804.1	-	2	697	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	233					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCTTGCCGCTCTCGCCT	0.577																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(697-699)CGG>CAG		trichohyalin							98.0	110.0	106.0					1																	152084995		2061	4194	6255	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084995C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.698G>A	1.37:g.152084995C>T	ENSP00000357794:p.Arg233Gln					TCHH_uc009wne.1_Missense_Mutation_p.R233Q	p.R233Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	698	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		233					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.698G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	9.555	1.116982	0.20795	.	.	ENSG00000159450	ENST00000368804	T	0.04502	3.61	3.5	-7.01	0.01594	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.31209	0.313	B	0.15052	0.012	T	0.44967	-0.9293	9	0.13108	T	0.6	.	6.881	0.24173	0.575:0.1155:0.0:0.3095	.	233	Q07283	TRHY_HUMAN	Q	233	ENSP00000357794:R233Q	ENSP00000357794:R233Q	R	-	2	0	TCHH	150351619	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.289000	0.02780	-2.545000	0.00483	-0.887000	0.02937	CGG		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
PAPPA2	60676	broad.mit.edu	37	1	176526161	176526161	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:176526161C>A	ENST00000367662.3	+	2	1867	c.703C>A	c.(703-705)Cca>Aca	p.P235T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P235T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	235					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAAAAGAGTCCACCGGAGGA	0.527																																						uc001gkz.2																			0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(703-705)CCA>ACA		pappalysin 2 isoform 1							83.0	84.0	84.0					1																	176526161		1950	4151	6101	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526161C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.703C>A	1.37:g.176526161C>A	ENSP00000356634:p.Pro235Thr					PAPPA2_uc001gky.1_Missense_Mutation_p.P235T|PAPPA2_uc009www.2_RNA	p.P235T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1867	+			235					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.703C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	6.021	0.372347	0.11409	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.31247	4.79;1.5	3.28	-1.56	0.08532	Concanavalin A-like lectin/glucanase (1);	1.307500	0.05974	U	0.642858	T	0.24624	0.0597	L	0.60455	1.87	0.09310	N	1	B;B	0.30068	0.164;0.267	B;B	0.25291	0.041;0.059	T	0.20806	-1.0264	10	0.21540	T	0.41	.	4.6078	0.12387	0.0:0.4326:0.3423:0.2251	.	235;235	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	T	235	ENSP00000356634:P235T;ENSP00000356633:P235T	ENSP00000356633:P235T	P	+	1	0	PAPPA2	174792784	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	0.049000	0.14099	-0.434000	0.07275	0.313000	0.20887	CCA		0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
OR11L1	391189	broad.mit.edu	37	1	248004304	248004304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:248004304C>A	ENST00000355784.2	-	1	950	c.895G>T	c.(895-897)Gaa>Taa	p.E299*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	299						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAACAGCTTCTTTGAAGTCT	0.393																																						uc001idn.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(895-897)GAA>TAA		olfactory receptor, family 11, subfamily L,							89.0	85.0	86.0					1																	248004304		2203	4300	6503	SO:0001587	stop_gained	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004304C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.895G>T	1.37:g.248004304C>A	ENSP00000348033:p.Glu299*						p.E299*	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	895	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		299			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000355784.2	37	c.895G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141481	0.57044	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.15	4.15	0.48705	.	1.908110	0.04053	U	0.305056	.	.	.	.	.	.	0.46849	D	0.999221	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	11.2807	0.49192	0.0:0.9089:0.0:0.0911	.	.	.	.	X	299	.	ENSP00000348033:E299X	E	-	1	0	OR11L1	246070927	0.000000	0.05858	0.074000	0.20217	0.627000	0.37826	0.672000	0.25187	2.314000	0.78098	0.543000	0.68304	GAA		0.393	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959	
AGAP6	414189	broad.mit.edu	37	10	51768724	51768724	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:51768724G>C	ENST00000374056.4	+	7	1168	c.770G>C	c.(769-771)aGa>aCa	p.R257T	AGAP6_ENST00000412531.3_Missense_Mutation_p.R280T			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	257					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GGGAGCGGTAGAGCCATCCCC	0.507																																						uc001jix.3																			0				skin(1)	1						c.(838-840)AGA>ACA		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768724G>C		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.770G>C	10.37:g.51768724G>C	ENSP00000363168:p.Arg257Thr						p.R280T	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			8	1237	+			280						Missense_Mutation	SNP	ENST00000374056.4	37	c.839G>C		.	.	.	.	.	.	.	.	.	.	.	14.50	2.555232	0.45487	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.160683	0.42420	D	0.000710	T	0.65770	0.2723	M	0.71581	2.175	0.43364	D	0.99544	D	0.62365	0.991	D	0.63597	0.916	T	0.63355	-0.6656	9	0.62326	D	0.03	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	280	C9IYN2	.	T	280;257	.	ENSP00000363168:R280T	R	+	2	0	AGAP6	51438730	0.978000	0.34361	0.201000	0.23476	0.203000	0.24098	3.620000	0.54203	0.132000	0.18615	0.134000	0.15878	AGA		0.507	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665	
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	C	rs57374291		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:89692835G>C	ENST00000371953.3	+	5	1676	c.319G>C	c.(319-321)Gat>Cat	p.D107H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		D -> Y (in BRRS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(4)	p.R55fs*1(4)|p.D107Y(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(1)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(319-321)GAT>CAT		phosphatase and tensin homolog							118.0	109.0	112.0					10																	89692835		2203	4297	6500	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692835G>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.319G>C	10.37:g.89692835G>C	ENSP00000361021:p.Asp107His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D107H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1350	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	107		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.319G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775606	0.90195	.	.	ENSG00000171862	ENST00000371953	D	0.86230	-2.09	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91257	0.5034	9	.	.	.	-8.2539	18.4584	0.90729	0.0:0.0:1.0:0.0	.	107	P60484	PTEN_HUMAN	H	107	ENSP00000361021:D107H	.	D	+	1	0	PTEN	89682815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	GAT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
BNIP3	664	broad.mit.edu	37	10	133787377	133787377	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:133787377A>T	ENST00000368636.4	-	2	241	c.117T>A	c.(115-117)taT>taA	p.Y39*	BNIP3_ENST00000540159.1_Nonsense_Mutation_p.Y39*	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	39					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGTCTCCATTATAAATAGAAA	0.517																																						uc001lkv.1																			0				lung(1)|skin(1)	2						c.(115-117)TAT>TAA		BCL2/adenovirus E1B 19kD-interacting protein 3							92.0	85.0	88.0					10																	133787377		2203	4300	6503	SO:0001587	stop_gained	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133787377A>T	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.117T>A	10.37:g.133787377A>T	ENSP00000357625:p.Tyr39*					BNIP3_uc010qut.1_Nonsense_Mutation_p.Y39*	p.Y39*	NM_004052	NP_004043	Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	2	243	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	39					O14620|Q96GP0	Nonsense_Mutation	SNP	ENST00000368636.4	37	c.117T>A	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694550	0.88830	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.89	0.104	0.14531	.	0.260360	0.37809	N	0.001935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0465	8.5832	0.33642	0.4891:0.0:0.5109:0.0	.	.	.	.	X	39	.	ENSP00000357625:Y39X	Y	-	3	2	BNIP3	133637367	0.998000	0.40836	0.736000	0.30914	0.915000	0.54546	0.474000	0.22148	-0.089000	0.12484	0.533000	0.62120	TAT		0.517	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1		
MRGPRX4	117196	broad.mit.edu	37	11	18195500	18195500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:18195500G>A	ENST00000314254.3	+	1	1117	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G233S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCTGCCCTTCGGCATTCTGGG	0.527																																						uc001mnv.1																			1	Substitution - Missense(1)		central_nervous_system(1)	skin(1)	1						c.(697-699)GGC>AGC		MAS-related GPR, member X4							92.0	86.0	88.0					11																	18195500		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195500G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.697G>A	11.37:g.18195500G>A	ENSP00000314042:p.Gly233Ser						p.G233S	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	1117	+			233			Helical; Name=6; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.697G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374209	0.42105	.	.	ENSG00000179817	ENST00000314254	T	0.37915	1.17	2.85	-0.501	0.12008	GPCR, rhodopsin-like superfamily (1);	0.194885	0.36338	N	0.002650	T	0.46386	0.1390	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.31081	-0.9956	10	0.46703	T	0.11	.	2.8387	0.05523	0.3749:0.0:0.4249:0.2001	.	233	Q96LA9	MRGX4_HUMAN	S	233	ENSP00000314042:G233S	ENSP00000314042:G233S	G	+	1	0	MRGPRX4	18152076	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.145000	0.10265	-0.219000	0.10003	0.430000	0.28490	GGC		0.527	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032	
LRRC4C	57689	broad.mit.edu	37	11	40137192	40137192	+	Silent	SNP	C	C	T	rs370666599		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:40137192C>T	ENST00000278198.2	-	2	2614	c.651G>A	c.(649-651)ccG>ccA	p.P217P	LRRC4C_ENST00000528697.1_Silent_p.P217P|LRRC4C_ENST00000530763.1_Silent_p.P217P|LRRC4C_ENST00000527150.1_Silent_p.P217P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	217					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P217P(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTTTATGAGCGGTGTGAGGT	0.458																																						uc001mxa.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(649-651)CCG>CCA		netrin-G1 ligand precursor		C		1,4405	2.1+/-5.4	0,1,2202	83.0	82.0	82.0		651	-8.0	0.5	11		82	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		217/641	40137192	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137192C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.651G>A	11.37:g.40137192C>T						LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxb.1_Silent_p.P213P	p.P217P	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2615	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	217			LRR 6.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.651G>A	CCDS31464.1																																																																																				0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
LRRC55	219527	broad.mit.edu	37	11	56950084	56950084	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:56950084T>A	ENST00000497933.1	+	1	864	c.717T>A	c.(715-717)aaT>aaA	p.N239K		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	209	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGGTGGCAATCCCTGGGTGT	0.632																																						uc001njl.1																			0					0						c.(715-717)AAT>AAA		leucine rich repeat containing 55							91.0	87.0	89.0					11																	56950084		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950084T>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.717T>A	11.37:g.56950084T>A	ENSP00000419542:p.Asn239Lys						p.N239K	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	864	+			209			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.717T>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895540	0.72639	.	.	ENSG00000183908	ENST00000497933	T	0.04970	3.52	5.77	1.76	0.24704	Cysteine-rich flanking region, C-terminal (1);	0.192161	0.37530	N	0.002059	T	0.35799	0.0944	H	0.99225	4.475	0.47037	D	0.999296	D	0.89917	1.0	D	0.97110	1.0	T	0.08371	-1.0725	10	0.87932	D	0	.	4.9923	0.14220	0.1378:0.559:0.0:0.3032	.	209	Q6ZSA7	LRC55_HUMAN	K	239	ENSP00000419542:N239K	ENSP00000419542:N239K	N	+	3	2	LRRC55	56706660	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.355000	0.34068	0.067000	0.16545	-0.366000	0.07423	AAT		0.632	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	
DAGLA	747	broad.mit.edu	37	11	61511858	61511858	+	Missense_Mutation	SNP	G	G	A	rs200476425		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:61511858G>A	ENST00000257215.5	+	20	3142	c.3026G>A	c.(3025-3027)aGt>aAt	p.S1009N	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	1009					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACGGGCCTCAGTAGCCAGGAA	0.657																																						uc001nsa.2																			0				ovary(2)|central_nervous_system(1)	3						c.(3025-3027)AGT>AAT		neural stem cell-derived dendrite regulator							42.0	46.0	45.0					11																	61511858		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511858G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.3026G>A	11.37:g.61511858G>A	ENSP00000257215:p.Ser1009Asn						p.S1009N	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	3137	+			1009			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.3026G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978895	0.53827	.	.	ENSG00000134780	ENST00000257215	T	0.29142	1.58	4.14	3.13	0.36017	.	0.181369	0.48767	D	0.000178	T	0.21468	0.0517	N	0.24115	0.695	0.39138	D	0.961993	B	0.33073	0.396	B	0.32211	0.142	T	0.28364	-1.0046	10	0.72032	D	0.01	-30.0843	13.4884	0.61379	0.0:0.1578:0.8422:0.0	.	1009	Q9Y4D2	DGLA_HUMAN	N	1009	ENSP00000257215:S1009N	ENSP00000257215:S1009N	S	+	2	0	DAGLA	61268434	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.904000	0.48719	2.040000	0.60383	0.462000	0.41574	AGT		0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	
STX5	6811	broad.mit.edu	37	11	62593006	62593006	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:62593006G>C	ENST00000294179.3	-	6	582	c.429C>G	c.(427-429)atC>atG	p.I143M	STX5_ENST00000541317.1_Missense_Mutation_p.I47M|STX5_ENST00000377897.4_Missense_Mutation_p.I143M|STX5_ENST00000394690.1_Missense_Mutation_p.I89M	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	143					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGAGGCTATTGATGTCCTGGT	0.507																																						uc001nvh.2																			0				ovary(1)|breast(1)	2						c.(427-429)ATC>ATG		syntaxin 5							102.0	104.0	103.0					11																	62593006		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62593006G>C	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.429C>G	11.37:g.62593006G>C	ENSP00000294179:p.Ile143Met					STX5_uc010rmi.1_Missense_Mutation_p.I47M|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.I89M|STX5_uc010rmj.1_Missense_Mutation_p.I143M|STX5_uc001nvj.2_Translation_Start_Site	p.I143M	NM_003164	NP_003155	Q13190	STX5_HUMAN			6	583	-			143			Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.429C>G	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394007	0.62066	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.28	4.35	0.52113	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.969	T	0.26883	-1.0090	10	0.59425	D	0.04	-0.6087	6.9309	0.24442	0.0882:0.0:0.7392:0.1726	.	143;143	F8W8Q9;Q13190	.;STX5_HUMAN	M	143;143;89;47	ENSP00000367129:I143M;ENSP00000294179:I143M;ENSP00000378182:I89M;ENSP00000441428:I47M	ENSP00000294179:I143M	I	-	3	3	STX5	62349582	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.877000	0.39598	2.758000	0.94735	0.563000	0.77884	ATC		0.507	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164	
NUMA1	4926	broad.mit.edu	37	11	71717271	71717271	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:71717271C>T	ENST00000393695.3	-	22	5833	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_ENST00000358965.6_Silent_p.S1820S|NUMA1_ENST00000351960.6_Silent_p.S698S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5500-5502)TCG>TCA		nuclear mitotic apparatus protein 1							98.0	85.0	89.0					11																	71717271		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71717271C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5502G>A	11.37:g.71717271C>T						NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	p.S1834S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			22	5674	-			1834						Silent	SNP	ENST00000393695.3	37	c.5502G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265930	0.40095	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.21	3.31	0.37934	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31641	-0.9936	4	.	.	.	.	4.2297	0.10597	0.0765:0.139:0.4976:0.2869	.	.	.	.	H	683	.	.	R	-	2	0	NUMA1	71394919	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	1.077000	0.30741	0.343000	0.23821	-0.120000	0.15030	CGT		0.552	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
FOLR4	390243	broad.mit.edu	37	11	94040846	94040846	+	Silent	SNP	G	G	A	rs376599967		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:94040846G>A	ENST00000440961.2	+	4	764	c.720G>A	c.(718-720)ccG>ccA	p.P240P		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	247					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TGTTCCTGCCGTTCCTTTCCT	0.617																																						uc010rud.1																			0				ovary(1)	1						c.(718-720)CCG>CCA		folate receptor 4 (delta) homolog		G		0,4184		0,0,2092	272.0	271.0	271.0		741	-7.9	0.0	11		271	1,8459		0,1,4229	no	coding-synonymous	FOLR4	NM_001199206.1		0,1,6321	AA,AG,GG		0.0118,0.0,0.0079		247/251	94040846	1,12643	2092	4230	6322	SO:0001819	synonymous_variant	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040846G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.720G>A	11.37:g.94040846G>A							p.P240P	NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN			4	720	+			247						Silent	SNP	ENST00000440961.2	37	c.720G>A																																																																																					0.617	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486	
BCAT1	586	broad.mit.edu	37	12	25047326	25047326	+	Silent	SNP	C	C	T	rs372121259		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:25047326C>T	ENST00000261192.7	-	3	688	c.162G>A	c.(160-162)acG>acA	p.T54T	BCAT1_ENST00000538118.1_Silent_p.T53T|BCAT1_ENST00000539780.1_Silent_p.T54T|BCAT1_ENST00000539282.1_Silent_p.T66T|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Silent_p.T30T	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	54					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	GCATATGATCCGTGAACACAG	0.453																																						uc001rgd.3																			0				lung(1)|breast(1)	2						c.(160-162)ACG>ACA		branched chain aminotransferase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	C	,,,,	1,3797		0,1,1898	90.0	89.0	90.0		162,90,198,159,162	-4.4	0.9	12		90	1,8241		0,1,4120	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAT1	NM_001178091.1,NM_001178092.1,NM_001178093.1,NM_001178094.1,NM_005504.6	,,,,	0,2,6018	TT,TC,CC		0.0121,0.0263,0.0166	,,,,	54/350,30/326,66/399,53/386,54/387	25047326	2,12038	1899	4121	6020	SO:0001819	synonymous_variant	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25047326C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.162G>A	12.37:g.25047326C>T						BCAT1_uc001rgc.2_Silent_p.T53T|BCAT1_uc010six.1_Silent_p.T66T|BCAT1_uc010siy.1_Silent_p.T54T|BCAT1_uc001rge.3_Silent_p.T30T	p.T54T	NM_005504	NP_005495	P54687	BCAT1_HUMAN			3	604	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		54					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Silent	SNP	ENST00000261192.7	37	c.162G>A	CCDS44845.1																																																																																				0.453	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504	
CIT	11113	broad.mit.edu	37	12	120142198	120142198	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:120142198G>A	ENST00000261833.7	-	40	5200	c.5148C>T	c.(5146-5148)aaC>aaT	p.N1716N	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.N1758N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1716	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGGTTTTCGTTGTAGCGGA	0.512																																						uc001txi.1																			0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(5146-5148)AAC>AAT		citron							204.0	167.0	179.0					12																	120142198		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120142198G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5148C>T	12.37:g.120142198G>A						CIT_uc001txh.1_Silent_p.N1235N|CIT_uc001txj.1_Silent_p.N1758N	p.N1716N	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	40	5201	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1716			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.5148C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	8.298	0.819341	0.16607	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.4	-8.11	0.01082	.	.	.	.	.	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71728	-0.4505	4	.	.	.	.	19.099	0.93266	0.6872:0.0:0.3128:0.0	.	.	.	.	M	1329	.	.	T	-	2	0	CIT	118626581	0.000000	0.05858	0.502000	0.27614	0.973000	0.67179	-1.427000	0.02441	-1.741000	0.01344	-1.057000	0.02308	ACG		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
AACS	65985	broad.mit.edu	37	12	125621257	125621257	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:125621257C>T	ENST00000316519.6	+	17	1934	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	AACS_ENST00000398953.2_3'UTR|AACS_ENST00000261686.6_Intron|AACS_ENST00000316543.10_Silent_p.N174N|AACS_ENST00000545511.1_Intron|AACS_ENST00000543665.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	576					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCCAGTATAACAAGTACAGGG	0.597																																						uc001uhc.2																			0				ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1726-1728)AAC>AAT		acetoacetyl-CoA synthetase							108.0	90.0	96.0					12																	125621257		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125621257C>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1728C>T	12.37:g.125621257C>T						AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Silent_p.N174N	p.N576N	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	17	1934	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		576					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.1728C>T	CCDS9263.1																																																																																				0.597	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
GALNT9	50614	broad.mit.edu	37	12	132688129	132688129	+	Missense_Mutation	SNP	C	C	T	rs375596382		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:132688129C>T	ENST00000328957.8	-	7	1183	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	GALNT9_ENST00000541995.1_Missense_Mutation_p.R29H|GALNT9_ENST00000397325.2_Missense_Mutation_p.R29H|GALNT9_ENST00000535228.1_Missense_Mutation_p.R146H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	395					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	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)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGGGCGTTGCGCTTGGCATA	0.637																																					Colon(186;2147 2752 13553 41466)	uc001ukc.3																			0					0						c.(1183-1185)CGC>CAC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide		C	HIS/ARG,HIS/ARG	0,4382		0,0,2191	85.0	99.0	94.0		107,86	3.9	1.0	12		94	1,8571	1.2+/-3.3	0,1,4285	no	missense,missense	GALNT9	NM_001122636.1.dup,NM_021808.3	29,29	0,1,6476	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	36/245,29/238	132688129	1,12953	2191	4286	6477	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688129C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1184G>A	12.37:g.132688129C>T	ENSP00000329846:p.Arg395His					GALNT9_uc009zyr.2_Missense_Mutation_p.R169H|GALNT9_uc001ukb.2_Missense_Mutation_p.R252H|GALNT9_uc001uka.2_Missense_Mutation_p.R29H	p.R395H	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	7	1300	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	395			Lumenal (Potential).		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1184G>A		.	.	.	.	.	.	.	.	.	.	c	27.2	4.809889	0.90707	0.0	1.17E-4	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356;ENST00000542942	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;1.29	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.957;0.961	T	0.68891	-0.5289	10	0.37606	T	0.19	.	16.216	0.82217	0.0:1.0:0.0:0.0	.	146;395;252	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	H	29;395;146;29;29;29	ENSP00000380488:R29H;ENSP00000329846:R395H;ENSP00000439745:R146H;ENSP00000440544:R29H;ENSP00000444709:R29H;ENSP00000438221:R29H	ENSP00000329846:R395H	R	-	2	0	GALNT9	131254082	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.499000	0.81566	1.865000	0.54081	0.462000	0.41574	CGC		0.637	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636	
HTR2A	3356	broad.mit.edu	37	13	47466570	47466570	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:47466570T>C	ENST00000378688.4	-	2	699	c.568A>G	c.(568-570)Act>Gct	p.T190A	HTR2A_ENST00000542664.1_Missense_Mutation_p.T190A|HTR2A_ENST00000543956.1_Missense_Mutation_p.T106A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	190					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AATGCCTTAGTTCTGGAGTTG	0.493																																						uc001vbq.2																			0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(568-570)ACT>GCT		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						295.0	296.0	296.0					13																	47466570		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47466570T>C	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.568A>G	13.37:g.47466570T>C	ENSP00000367959:p.Thr190Ala					HTR2A_uc001vbr.2_Missense_Mutation_p.T90A|HTR2A_uc010acr.2_Missense_Mutation_p.T190A	p.T190A	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	2	702	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	190			Cytoplasmic (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.568A>G	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090423	0.36855	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.37235	1.21;1.21;1.21	6.16	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.051509	0.85682	D	0.000000	T	0.24586	0.0596	N	0.21448	0.665	0.50039	D	0.999847	B;B	0.17667	0.007;0.023	B;B	0.22880	0.026;0.042	T	0.06267	-1.0836	10	0.20046	T	0.44	.	12.1905	0.54268	0.0:0.0762:0.0:0.9238	.	106;190	F5GWE8;P28223	.;5HT2A_HUMAN	A	190;106;190	ENSP00000367959:T190A;ENSP00000441861:T106A;ENSP00000437737:T190A	ENSP00000367959:T190A	T	-	1	0	HTR2A	46364571	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.732000	0.47352	2.367000	0.80283	0.528000	0.53228	ACT		0.493	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
DIS3	22894	broad.mit.edu	37	13	73355005	73355005	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:73355005G>A	ENST00000377767.4	-	2	465	c.365C>T	c.(364-366)aCt>aTt	p.T122I	DIS3_ENST00000377780.4_Intron|DIS3_ENST00000475871.1_5'UTR|DIS3_ENST00000545453.1_5'UTR|PIBF1_ENST00000326291.6_5'Flank	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	122	PINc.				CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTAGTGAAAGTATAGAAATG	0.388										Multiple Myeloma(4;0.011)																												uc001vix.3																			0				central_nervous_system(1)	1						c.(364-366)ACT>ATT		DIS3 mitotic control isoform a							148.0	144.0	146.0					13																	73355005		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73355005G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.365C>T	13.37:g.73355005G>A	ENSP00000366997:p.Thr122Ile	Multiple Myeloma(4;0.011)				PIBF1_uc001vja.1_5'Flank|PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.2_5'Flank|PIBF1_uc001vjc.2_5'Flank|PIBF1_uc010aep.2_5'Flank|DIS3_uc001viy.3_Intron|DIS3_uc001viz.2_RNA	p.T122I	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	2	739	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	122			PINc.		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.365C>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363341	0.82353	.	.	ENSG00000083520	ENST00000377767	T	0.21734	1.99	5.7	5.7	0.88788	Nucleotide binding protein, PINc (1);	0.457656	0.27891	N	0.017423	T	0.27594	0.0678	L	0.52126	1.63	0.80722	D	1	B	0.26318	0.146	B	0.30716	0.119	T	0.02829	-1.1105	10	0.54805	T	0.06	.	19.9129	0.97029	0.0:0.0:1.0:0.0	.	122	Q9Y2L1	RRP44_HUMAN	I	122	ENSP00000366997:T122I	ENSP00000366997:T122I	T	-	2	0	DIS3	72253006	1.000000	0.71417	0.955000	0.39395	0.962000	0.63368	9.814000	0.99346	2.716000	0.92895	0.644000	0.83932	ACT		0.388	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
KIAA0430	9665	broad.mit.edu	37	16	15692768	15692768	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:15692768C>T	ENST00000396368.3	-	26	5133	c.4927G>A	c.(4927-4929)Gtt>Att	p.V1643I	KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1643I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V1478I|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V1640I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V1640I|KIAA0430_ENST00000344181.3_Missense_Mutation_p.V1331I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1643					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGAGGATAACGGGGTCTGGT	0.592																																						uc002ddr.2																			0					0						c.(4927-4929)GTT>ATT		limkain b1							66.0	74.0	71.0					16																	15692768		2010	4175	6185	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15692768C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4927G>A	16.37:g.15692768C>T	ENSP00000379654:p.Val1643Ile					KIAA0430_uc002ddq.2_Missense_Mutation_p.V1477I|KIAA0430_uc010uzv.1_Missense_Mutation_p.V1639I|KIAA0430_uc010uzw.1_Missense_Mutation_p.V1642I	p.V1643I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			26	5120	-			1642					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.4927G>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921896	0.73213	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.38	5.38	0.77491	.	0.062472	0.64402	D	0.000005	T	0.60689	0.2288	L	0.34521	1.04	0.28041	N	0.933764	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.991;0.996;0.996;0.979	T	0.56220	-0.8015	9	0.52906	T	0.07	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	1642;1640;1639;1642	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	I	1643;1478;1583;1331;1640;1643;1509	.	ENSP00000315718:V1583I	V	-	1	0	KIAA0430	15600269	1.000000	0.71417	0.283000	0.24790	0.300000	0.27592	5.097000	0.64542	2.793000	0.96121	0.655000	0.94253	GTT		0.592	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	
VPS35	55737	broad.mit.edu	37	16	46694426	46694426	+	Silent	SNP	T	T	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:46694426T>G	ENST00000299138.7	-	17	2407	c.2349A>C	c.(2347-2349)tcA>tcC	p.S783S	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	783					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CGGATTCTGGTGATTCCCGCC	0.438																																						uc002eef.3																			0					0						c.(2347-2349)TCA>TCC		vacuolar protein sorting 35							103.0	110.0	108.0					16																	46694426		2203	4300	6503	SO:0001819	synonymous_variant	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46694426T>G	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2349A>C	16.37:g.46694426T>G						VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Silent_p.S744S	p.S783S	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			17	2448	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	783					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	ENST00000299138.7	37	c.2349A>C	CCDS10721.1																																																																																				0.438	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3		
ABCC11	85320	broad.mit.edu	37	16	48247385	48247385	+	Missense_Mutation	SNP	G	G	A	rs148839428		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:48247385G>A	ENST00000394747.1	-	9	1674	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	ABCC11_ENST00000394748.1_Missense_Mutation_p.T442M|ABCC11_ENST00000356608.2_Missense_Mutation_p.T442M|ABCC11_ENST00000353782.5_Missense_Mutation_p.T442M|ABCC11_ENST00000537808.1_Missense_Mutation_p.T442M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	442	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|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)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTTGGAATTCGTGAGACCTTT	0.552																																						uc002eff.1																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1324-1326)ACG>ATG		ATP-binding cassette, sub-family C, member 11							116.0	94.0	101.0					16																	48247385		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48247385G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1325C>T	16.37:g.48247385G>A	ENSP00000378230:p.Thr442Met					ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_RNA	p.T442M	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			9	1675	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	442			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1325C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438122	0.62955	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92752	-2.91;-2.82;-2.82;-2.82;-3.1	4.25	2.27	0.28462	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.280544	0.34025	N	0.004321	D	0.93229	0.7843	L	0.57536	1.79	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.70487	0.969;0.943	D	0.85468	0.1171	10	0.49607	T	0.09	-3.021	7.1965	0.25855	0.2131:0.0:0.7869:0.0	.	442;442	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	442	ENSP00000311326:T442M;ENSP00000349017:T442M;ENSP00000378231:T442M;ENSP00000378230:T442M;ENSP00000438530:T442M	ENSP00000311326:T442M	T	-	2	0	ABCC11	46804886	0.011000	0.17503	0.006000	0.13384	0.891000	0.51852	0.601000	0.24119	0.372000	0.24591	-0.123000	0.14984	ACG		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
CNGB1	1258	broad.mit.edu	37	16	57993926	57993926	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:57993926G>A	ENST00000251102.8	-	10	687	c.627C>T	c.(625-627)gcC>gcT	p.A209A	CNGB1_ENST00000564448.1_Silent_p.A203A|CNGB1_ENST00000311183.4_Silent_p.A209A	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	209	Pro-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCTCCCGGGCCTGCAGCT	0.687																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			0				breast(3)|pancreas(1)	4						c.(625-627)GCC>GCT		cyclic nucleotide gated channel beta 1 isoform							8.0	11.0	10.0					16																	57993926		1893	4079	5972	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57993926G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.627C>T	16.37:g.57993926G>A						CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A	p.A209A	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			10	692	-			209			Pro-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.627C>T	CCDS42169.1																																																																																				0.687	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
SMTNL2	342527	broad.mit.edu	37	17	4496362	4496362	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:4496362G>A	ENST00000389313.4	+	3	693	c.626G>A	c.(625-627)gGg>gAg	p.G209E	SMTNL2_ENST00000338859.4_Missense_Mutation_p.G65E	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	209										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGGTTCTCTGGGGAGACCTCA	0.657																																						uc002fyf.1																			0					0						c.(625-627)GGG>GAG		smoothelin-like 2 isoform 1							67.0	68.0	68.0					17																	4496362		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4496362G>A	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.626G>A	17.37:g.4496362G>A	ENSP00000373964:p.Gly209Glu					SMTNL2_uc002fye.2_Missense_Mutation_p.G65E	p.G209E	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	3	693	+			209					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.626G>A	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098820	0.76870	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82081	-1.57;-1.53	5.4	5.4	0.78164	.	.	.	.	.	T	0.79299	0.4422	M	0.61703	1.905	0.48185	D	0.999607	P	0.44090	0.826	B	0.35114	0.196	T	0.81662	-0.0831	9	0.49607	T	0.09	-40.9141	15.0609	0.71951	0.0:0.0:1.0:0.0	.	209	Q2TAL5	SMTL2_HUMAN	E	65;209	ENSP00000345143:G65E;ENSP00000373964:G209E	ENSP00000345143:G65E	G	+	2	0	SMTNL2	4443111	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.975000	0.63777	2.722000	0.93159	0.655000	0.94253	GGG		0.657	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501	
TMEM220	388335	broad.mit.edu	37	17	10628403	10628403	+	Missense_Mutation	SNP	G	G	A	rs201706506		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:10628403G>A	ENST00000341871.3	-	4	676	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000578345.1_Missense_Mutation_p.T61M|TMEM220_ENST00000455996.2_Missense_Mutation_p.T61M	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	71						integral component of membrane (GO:0016021)		p.T71M(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGCCCACACCGTACAAAAGAG	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		21826	0.001		0.0	False		,,,				2504	0.0					uc002gmx.2																			1	Substitution - Missense(1)		prostate(1)		0						c.(211-213)ACG>ATG		transmembrane protein 220							178.0	153.0	162.0					17																	10628403		2203	4300	6503	SO:0001583	missense	388335					integral to membrane		g.chr17:10628403G>A		CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.212C>T	17.37:g.10628403G>A	ENSP00000339830:p.Thr71Met					TMEM220_uc002gmy.2_Missense_Mutation_p.T61M	p.T71M	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN			4	690	-			71			Helical; (Potential).		A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Missense_Mutation	SNP	ENST00000341871.3	37	c.212C>T	CCDS32567.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.012	0.370605	0.11409	.	.	ENSG00000187824	ENST00000341871;ENST00000455996	.	.	.	5.94	-1.87	0.07737	.	1.511540	0.03430	N	0.207628	T	0.27866	0.0686	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.09377	0.001;0.004	T	0.30031	-0.9992	9	0.40728	T	0.16	-35.6664	11.8497	0.52405	0.4581:0.0:0.5419:0.0	.	61;71	Q6QAJ8-2;Q6QAJ8	.;TM220_HUMAN	M	71;61	.	ENSP00000339830:T71M	T	-	2	0	TMEM220	10569128	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.763000	0.26517	-0.297000	0.08934	-2.048000	0.00412	ACG		0.448	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313	
HAP1	9001	broad.mit.edu	37	17	39884047	39884047	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:39884047C>T	ENST00000310778.5	-	8	1251	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Intron|HAP1_ENST00000347901.4_Silent_p.S414S|HAP1_ENST00000341193.5_Intron|RN7SL399P_ENST00000471648.2_RNA			P54257	HAP1_HUMAN	huntingtin-associated protein 1	414	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTCCTTCTCCGAAGCCAGCT	0.622																																						uc002hxm.1																			0				ovary(2)	2						c.(1240-1242)TCG>TCA		huntingtin-associated protein 1 isoform 2							49.0	42.0	44.0					17																	39884047		2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39884047C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1242G>A	17.37:g.39884047C>T						JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S414S|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	p.S414S	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		8	1254	-		Breast(137;0.000162)	414			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1242G>A																																																																																					0.622	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	
MUC16	94025	broad.mit.edu	37	19	9071728	9071728	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:9071728T>C	ENST00000397910.4	-	3	15921	c.15718A>G	c.(15718-15720)Aag>Gag	p.K5240E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5242	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGTGGACTTATCATGGTCT	0.478																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15718-15720)AAG>GAG		mucin 16							173.0	170.0	171.0					19																	9071728		2004	4171	6175	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071728T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15718A>G	19.37:g.9071728T>C	ENSP00000381008:p.Lys5240Glu						p.K5240E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15922	-			5242			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15718A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.917	-0.018836	0.07681	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.94	-2.84	0.05751	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.23650	0.089	B	0.09377	0.004	T	0.44513	-0.9323	8	0.87932	D	0	.	4.6404	0.12545	0.0:0.177:0.5165:0.3065	.	5240	B5ME49	.	E	5240	ENSP00000381008:K5240E	ENSP00000381008:K5240E	K	-	1	0	MUC16	8932728	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.264000	0.08658	-0.628000	0.05582	-0.486000	0.04755	AAG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
CD22	933	broad.mit.edu	37	19	35832284	35832285	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:35832284_35832285insT	ENST00000085219.5	+	8	1612_1613	c.1546_1547insT	c.(1546-1548)cttfs	p.L516fs	CD22_ENST00000594250.1_Frame_Shift_Ins_p.L339fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.L344fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.L428fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.L339fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.L516fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.L396fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	516	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AATCAAGCCCCTTTCCGAGATT	0.574																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			0				ovary(5)|lung(3)|breast(1)	9						c.(1546-1548)CTTfs		CD22 molecule precursor	OspA lipoprotein(DB00045)																																			SO:0001589	frameshift_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832284_35832285insT	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1549dupT	19.37:g.35832287_35832287dupT	ENSP00000085219:p.Leu516fs					CD22_uc010xst.1_Frame_Shift_Ins_p.L344fs|CD22_uc010edu.2_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.2_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.3_Frame_Shift_Ins_p.L339fs|CD22_uc010edx.2_RNA	p.L516fs	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1623_1624	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		516			Extracellular (Potential).|Ig-like C2-type 5.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Ins	INS	ENST00000085219.5	37	c.1546_1547insT	CCDS12457.1																																																																																				0.574	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
GLTSCR2	29997	broad.mit.edu	37	19	48259848	48259848	+	Nonsense_Mutation	SNP	C	C	T	rs141718194		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:48259848C>T	ENST00000246802.5	+	11	1398	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	454				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413). {ECO:0000305}.|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GATCGAGCCTCGAGAGAGAGC	0.632																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2																			0				central_nervous_system(1)	1						c.(1360-1362)CGA>TGA		glioma tumor suppressor candidate region gene 2		C	stop/ARG	0,4406		0,0,2203	43.0	47.0	46.0		1360	3.7	1.0	19	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GLTSCR2	NM_015710.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		454/479	48259848	1,13005	2203	4300	6503	SO:0001587	stop_gained	29997					nucleolus		g.chr19:48259848C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1360C>T	19.37:g.48259848C>T	ENSP00000246802:p.Arg454*					GLTSCR2_uc002phk.2_3'UTR|GLTSCR2_uc002phl.2_Nonsense_Mutation_p.R454*|GLTSCR2_uc010elj.2_Intron|GLTSCR2_uc010elk.1_RNA	p.R454*	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	11	1384	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	454	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Nonsense_Mutation	SNP	ENST00000246802.5	37	c.1360C>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045564	0.97231	0.0	1.16E-4	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	.	.	.	4.79	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3043	9.7472	0.40453	0.2059:0.794:0.0:0.0	.	.	.	.	X	454;448;239	.	ENSP00000246802:R454X	R	+	1	2	GLTSCR2	52951660	0.832000	0.29368	0.989000	0.46669	0.804000	0.45430	1.386000	0.34419	2.657000	0.90304	0.655000	0.94253	CGA		0.632	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	
NLRP12	91662	broad.mit.edu	37	19	54304629	54304629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:54304629C>T	ENST00000324134.6	-	7	2776	c.2608G>A	c.(2608-2610)Gct>Act	p.A870T	NLRP12_ENST00000391775.3_Missense_Mutation_p.A870T|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.A870T|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.A871T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A871T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	870					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGGCAGCAGCAGTGAGGCGG	0.493																																						uc002qch.3																			0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2608-2610)GCT>ACT		NLR family, pyrin domain containing 12 isoform							55.0	49.0	51.0					19																	54304629		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54304629C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2608G>A	19.37:g.54304629C>T	ENSP00000319377:p.Ala870Thr					NLRP12_uc010eqw.2_Missense_Mutation_p.A153T|NLRP12_uc002qci.3_Missense_Mutation_p.A870T|NLRP12_uc002qcj.3_Missense_Mutation_p.A871T|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	p.A870T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	7	2828	-	Ovarian(34;0.19)		870			LRR 2.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2608G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337368	0.24253	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.45	-4.5	0.03493	.	0.706457	0.11601	U	0.547782	T	0.35566	0.0936	L	0.58428	1.81	0.09310	N	1	P;P;P;B	0.48640	0.913;0.745;0.565;0.227	P;B;B;B	0.47044	0.535;0.276;0.2;0.142	T	0.29549	-1.0008	10	0.35671	T	0.21	.	4.2515	0.10696	0.4219:0.2905:0.2176:0.0701	.	153;870;870;870	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	870;870;153;870;871;871	ENSP00000319377:A870T;ENSP00000438030:A870T;ENSP00000375655:A870T;ENSP00000375653:A871T	ENSP00000319377:A870T	A	-	1	0	NLRP12	58996441	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.150000	0.16263	-0.178000	0.10672	-0.346000	0.07831	GCT		0.493	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
SMEK2	57223	broad.mit.edu	37	2	55791468	55791468	+	Silent	SNP	C	C	T	rs145292231		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:55791468C>T	ENST00000345102.5	-	15	2542	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	SMEK2_ENST00000272313.5_Silent_p.K662K|SMEK2_ENST00000407823.3_Silent_p.K715K|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	747					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCCATAAACTTTTCATAAT	0.333																																						uc002rzc.2																			0				skin(1)	1						c.(2239-2241)AAG>AAA		SMEK homolog 2, suppressor of mek1 isoform 1							106.0	103.0	104.0					2																	55791468		2202	4299	6501	SO:0001819	synonymous_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55791468C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.2241G>A	2.37:g.55791468C>T						SMEK2_uc002rzb.2_Silent_p.K662K|SMEK2_uc002rzd.2_Silent_p.K715K|SMEK2_uc002ryz.2_Silent_p.K174K|SMEK2_uc002rza.2_Silent_p.K531K	p.K747K	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		15	2616	-			747					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	c.2241G>A	CCDS46289.1																																																																																				0.333	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	
TTN	7273	broad.mit.edu	37	2	179594120	179594120	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:179594120T>A	ENST00000591111.1	-	62	18036	c.17812A>T	c.(17812-17814)Aac>Tac	p.N5938Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N5011Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N6255Y			Q8WZ42	TITIN_HUMAN	titin	12733	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGGAGGTTAAACACAGAC	0.463																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15031-15033)AAC>TAC		titin isoform N2-A							141.0	135.0	137.0					2																	179594120		1936	4138	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594120T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17812A>T	2.37:g.179594120T>A	ENSP00000465570:p.Asn5938Tyr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1672Y	p.N5011Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	15255	-			5938					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15031A>T		.	.	.	.	.	.	.	.	.	.	T	8.370	0.834999	0.16820	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.92	2.12	0.27331	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42291	0.1196	N	0.13327	0.33	0.43703	D	0.996165	B	0.02656	0.0	B	0.04013	0.001	T	0.30707	-0.9969	9	0.87932	D	0	.	1.0388	0.01554	0.2613:0.1316:0.1289:0.4783	.	5938	Q8WZ42	TITIN_HUMAN	Y	5011	ENSP00000343764:N5011Y	ENSP00000343764:N5011Y	N	-	1	0	TTN	179302365	0.913000	0.31002	0.457000	0.27056	0.813000	0.45954	0.980000	0.29513	0.111000	0.17947	0.533000	0.62120	AAC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
INPP5D	3635	broad.mit.edu	37	2	233944058	233944058	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:233944058G>A	ENST00000359570.5	+	2	148	c.148G>A	c.(148-150)Gtt>Att	p.V50I	INPP5D_ENST00000538935.1_Missense_Mutation_p.V50I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	50	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCGGAATTGCGTTTACACTTA	0.403																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			0				ovary(1)|central_nervous_system(1)	2						c.(148-150)GTT>ATT		SH2 containing inositol phosphatase isoform a							85.0	82.0	83.0					2																	233944058		1853	4112	5965	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233944058G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.148G>A	2.37:g.233944058G>A	ENSP00000352575:p.Val50Ile					INPP5D_uc010zmp.1_Missense_Mutation_p.V50I	p.V50I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	2	301	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	50			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.148G>A		.	.	.	.	.	.	.	.	.	.	G	17.20	3.330138	0.60743	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	6.04	6.04	0.98038	SH2 motif (4);	0.114051	0.64402	D	0.000016	D	0.95149	0.8428	.	.	.	0.28358	N	0.920573	D;D	0.69078	0.997;0.997	D;D	0.76071	0.978;0.987	D	0.91119	0.4928	9	0.87932	D	0	.	16.1438	0.81548	0.0:0.0:1.0:0.0	.	50;50	Q92835-2;Q92835	.;SHIP1_HUMAN	I	50	ENSP00000409018:V50I;ENSP00000415253:V50I;ENSP00000352575:V50I;ENSP00000441010:V50I	ENSP00000352575:V50I	V	+	1	0	INPP5D	233652302	0.999000	0.42202	0.383000	0.26132	0.410000	0.31052	5.095000	0.64529	2.890000	0.99128	0.650000	0.86243	GTT		0.403	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	
NCOR1P1	149934	broad.mit.edu	37	20	26094557	26094557	+	RNA	SNP	A	A	C	rs372135921	byFrequency	TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr20:26094557A>C	ENST00000478176.1	-	0	107					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TTACAGAGTGAGGAGGATAAT	0.418													A|||	10	0.00199681	0.0008	0.0014	5008	,	,		17782	0.0		0.007	False		,,,				2504	0.001					uc002wvj.3																			0					0						c.(64-66)CCT>CCG		SubName: Full=Putative uncharacterized protein ENSP00000323172;		A		0,1384		0,0,692	369.0	293.0	316.0			-2.1	1.0	20		316	11,3171		0,11,1580	no	intergenic				0,11,2272	CC,CA,AA		0.3457,0.0,0.2409			26094557	11,4555	692	1591	2283			149934							g.chr20:26094557A>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26094557A>C							p.P22P	NR_003678						1	121	-								A2RUA0	Silent	SNP	ENST00000478176.1	37	c.66T>G																																																																																					0.418	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2		
WFDC13	164237	broad.mit.edu	37	20	44334525	44334525	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr20:44334525T>C	ENST00000305479.2	+	3	371	c.263T>C	c.(262-264)gTc>gCc	p.V88A	WFDC10B_ENST00000335769.2_5'Flank|WFDC10B_ENST00000330523.5_5'Flank|MIR3617_ENST00000577518.1_RNA	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	88						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				GGCTCAGAAGTCATCATGCCT	0.353																																						uc002xpd.2																			0					0						c.(262-264)GTC>GCC		WAP four-disulfide core domain 13 precursor							109.0	101.0	104.0					20																	44334525		2203	4300	6503	SO:0001583	missense	164237					extracellular region	peptidase inhibitor activity	g.chr20:44334525T>C	AF454505	CCDS13367.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000168634	ENSG00000168634		"""WAP four-disulfide core domain containing"""	16131	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 138"""	C20orf138		12206714	Standard	NM_172005		Approved	dJ601O1.3, WAP13	uc002xpd.3	Q8IUB5	OTTHUMG00000046333	ENST00000305479.2:c.263T>C	20.37:g.44334525T>C	ENSP00000302938:p.Val88Ala					WFDC10B_uc002xpb.2_5'Flank|WFDC10B_uc002xpc.2_5'Flank	p.V88A	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN			3	371	+		Myeloproliferative disorder(115;0.0122)	88					Q5TEU7|Q8WWK7	Missense_Mutation	SNP	ENST00000305479.2	37	c.263T>C	CCDS13367.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420721	0.25639	.	.	ENSG00000168634	ENST00000305479	T	0.49139	0.79	2.86	-1.9	0.07665	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.09310	N	1	B	0.22983	0.078	B	0.17433	0.018	T	0.18587	-1.0332	8	0.36615	T	0.2	.	0.1789	0.00121	0.3603:0.2287:0.1499:0.2611	.	88	Q8IUB5	WFD13_HUMAN	A	88	ENSP00000302938:V88A	ENSP00000302938:V88A	V	+	2	0	WFDC13	43767939	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.861000	0.01654	-0.380000	0.07894	0.402000	0.26972	GTC		0.353	WFDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106946.1		
LRRC3B	116135	broad.mit.edu	37	3	26751911	26751911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:26751911G>A	ENST00000396641.2	+	2	1340	c.748G>A	c.(748-750)Gat>Aat	p.D250N	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.D250N|LRRC3B_ENST00000456208.2_Missense_Mutation_p.D250N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	250						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAAGAAAGCAGATGAACCTGA	0.418																																						uc003cdp.2																			0				pancreas(2)|ovary(1)|skin(1)	4						c.(748-750)GAT>AAT		leucine rich repeat containing 3B precursor							71.0	68.0	69.0					3																	26751911		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751911G>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.748G>A	3.37:g.26751911G>A	ENSP00000379880:p.Asp250Asn					LRRC3B_uc003cdq.2_Missense_Mutation_p.D250N	p.D250N	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN			2	1337	+			250					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.748G>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802296	0.70682	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.59638	0.25;0.25;0.25	6.04	6.04	0.98038	.	0.098719	0.64402	D	0.000002	T	0.53190	0.1781	L	0.38175	1.15	0.80722	D	1	P	0.44478	0.836	B	0.40285	0.325	T	0.57573	-0.7788	10	0.72032	D	0.01	-19.0364	19.583	0.95478	0.0:0.0:1.0:0.0	.	250	Q96PB8	LRC3B_HUMAN	N	250	ENSP00000379880:D250N;ENSP00000406370:D250N;ENSP00000394940:D250N	ENSP00000379880:D250N	D	+	1	0	LRRC3B	26726915	1.000000	0.71417	0.570000	0.28473	0.993000	0.82548	8.007000	0.88571	2.873000	0.98535	0.563000	0.77884	GAT		0.418	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953	
AZI2	64343	broad.mit.edu	37	3	28381958	28381958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:28381958G>A	ENST00000479665.1	-	2	682	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AZI2_ENST00000420543.2_Nonsense_Mutation_p.R51*|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000457172.1_Nonsense_Mutation_p.R51*|AZI2_ENST00000334100.6_Nonsense_Mutation_p.R51*	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	51	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCTTAAGTCGTTTTTTGATG	0.338																																						uc003ceb.2																			0				ovary(2)	2						c.(151-153)CGA>TGA		5-azacytidine induced 2 isoform a							80.0	79.0	79.0					3																	28381958		2202	4299	6501	SO:0001587	stop_gained	64343					mitochondrion|plasma membrane		g.chr3:28381958G>A	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.151C>T	3.37:g.28381958G>A	ENSP00000419371:p.Arg51*					AZI2_uc003cec.2_Translation_Start_Site|AZI2_uc003ced.2_Nonsense_Mutation_p.R51*|AZI2_uc003cee.3_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003cef.2_Nonsense_Mutation_p.R51*	p.R51*	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN			2	683	-			51			Potential.		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Nonsense_Mutation	SNP	ENST00000479665.1	37	c.151C>T	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	G	37	6.353925	0.97498	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	5.62	3.58	0.41010	.	0.052456	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2927	15.8244	0.78686	0.0:0.0:0.7344:0.2656	.	.	.	.	X	51	.	ENSP00000335609:R51X	R	-	1	2	AZI2	28356962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.960000	0.40422	1.304000	0.44892	0.650000	0.86243	CGA		0.338	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326	
IMPG2	50939	broad.mit.edu	37	3	100951684	100951684	+	Silent	SNP	A	A	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:100951684A>G	ENST00000193391.7	-	15	3361	c.3174T>C	c.(3172-3174)ccT>ccC	p.P1058P		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1058	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AGCAGAAGTCAGGCTGTAGGT	0.488																																						uc003duq.1																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(3172-3174)CCT>CCC		interphotoreceptor matrix proteoglycan 2							99.0	85.0	90.0					3																	100951684		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100951684A>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3174T>C	3.37:g.100951684A>G						IMPG2_uc011bhe.1_Silent_p.P921P|IMPG2_uc010hpj.1_RNA	p.P1058P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			15	3377	-			1058			Extracellular (Potential).|EGF-like 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.3174T>C	CCDS2940.1																																																																																				0.488	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Splice_Site	SNP	G	G	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:108353719G>T	ENST00000361582.3	+	10	1048	c.818G>T	c.(817-819)gGa>gTa	p.G273V	DZIP3_ENST00000463306.1_Splice_Site_p.G273V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254																																						uc003dxd.2																			0				ovary(1)|central_nervous_system(1)	2						c.(817-819)GGA>GTA		DAZ interacting protein 3, zinc finger							65.0	67.0	67.0					3																	108353719		2198	4295	6493	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353719G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.817-1G>T	3.37:g.108353719G>T						DZIP3_uc003dxf.1_Missense_Mutation_p.G273V|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.G273V|DZIP3_uc003dxg.1_5'UTR	p.G273V	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			10	1240	+			273					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.818G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	18.96	3.732770	0.69189	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.46451	0.87;0.87;0.87	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.40791	0.1131	N	0.19112	0.55	0.58432	D	0.999999	P	0.48998	0.918	P	0.52189	0.692	T	0.37798	-0.9690	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	V	273	ENSP00000355028:G273V;ENSP00000418115:G273V;ENSP00000419981:G273V	ENSP00000355028:G273V	G	+	2	0	DZIP3	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA		0.254	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Missense_Mutation
COL6A5	256076	broad.mit.edu	37	3	130159044	130159044	+	Silent	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:130159044T>C	ENST00000432398.2	+	35	6356	c.5862T>C	c.(5860-5862)gcT>gcC	p.A1954A	COL6A5_ENST00000265379.6_Silent_p.A1954A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1954	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTCGAGAGGCTTTCTTACCTG	0.403																																						uc010htj.1																			0					0						c.(5860-5862)GCT>GCC		collagen, type XXIX, alpha 1							77.0	70.0	72.0					3																	130159044		1877	4103	5980	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130159044T>C	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5862T>C	3.37:g.130159044T>C						COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_5'UTR	p.A1954A	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			35	6356	+			1954			VWFA 8.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.5862T>C		.	.	.	.	.	.	.	.	.	.	T	2.350	-0.349145	0.05173	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.63	0.284	0.15701	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21008	-1.0258	4	.	.	.	.	0.2604	0.00217	0.3076:0.175:0.1438:0.3736	.	.	.	.	L	206	.	.	F	+	1	0	COL6A5	131641734	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	-1.665000	0.01965	0.400000	0.25396	0.460000	0.39030	TTT		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
CEP70	80321	broad.mit.edu	37	3	138289888	138289888	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:138289888T>C	ENST00000264982.3	-	5	538	c.272A>G	c.(271-273)aAt>aGt	p.N91S	CEP70_ENST00000542237.1_Missense_Mutation_p.N71S|CEP70_ENST00000481834.1_Missense_Mutation_p.N91S|CEP70_ENST00000484888.1_Missense_Mutation_p.N91S|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000464035.1_Missense_Mutation_p.N91S|CEP70_ENST00000478673.1_5'UTR	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	91					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AAGCTGTTGATTAGTTTCTAT	0.318																																						uc003esl.2																			0				skin(1)	1						c.(271-273)AAT>AGT		centrosomal protein 70 kDa							89.0	88.0	88.0					3																	138289888		2203	4296	6499	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138289888T>C	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.272A>G	3.37:g.138289888T>C	ENSP00000264982:p.Asn91Ser					CEP70_uc011bmk.1_Missense_Mutation_p.N71S|CEP70_uc011bml.1_Missense_Mutation_p.N73S|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Missense_Mutation_p.N91S|CEP70_uc003esn.2_Missense_Mutation_p.N91S	p.N91S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			5	470	-			91			Potential.		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.272A>G	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656123	0.47467	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	T;T;T;T;T;T;T;T	0.57436	1.02;1.03;1.02;1.03;0.98;0.41;0.4;0.43	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.65498	2.005	0.41894	D	0.99038	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.83275	0.99;0.996;0.994	T	0.70938	-0.4736	10	0.56958	D	0.05	-23.8421	11.1119	0.48237	0.0:0.0:0.0:1.0	.	71;91;91	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	S	91;71;91;73;91;70;71;91;91	ENSP00000264982:N91S;ENSP00000444128:N71S;ENSP00000419231:N91S;ENSP00000419833:N73S;ENSP00000417465:N91S;ENSP00000418131:N70S;ENSP00000417819:N71S;ENSP00000419743:N91S	ENSP00000264982:N91S	N	-	2	0	CEP70	139772578	1.000000	0.71417	0.944000	0.38274	0.245000	0.25701	4.335000	0.59298	2.114000	0.64651	0.533000	0.62120	AAT		0.318	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
PHC3	80012	broad.mit.edu	37	3	169840418	169840418	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:169840418C>T	ENST00000494943.1	-	9	1935	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R	PHC3_ENST00000495893.2_Missense_Mutation_p.G635R|PHC3_ENST00000467570.1_Missense_Mutation_p.G582R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	623	Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCTCCTCTCCCCACTGTTATA	0.393																																						uc010hws.1																			0				ovary(1)|central_nervous_system(1)	2						c.(1867-1869)GGG>AGG		polyhomeotic like 3							120.0	116.0	117.0					3																	169840418		1875	4114	5989	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169840418C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1867G>A	3.37:g.169840418C>T	ENSP00000420271:p.Gly623Arg					PHC3_uc003fgl.2_Missense_Mutation_p.G635R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R	p.G623R	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		9	1931	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		623			Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1867G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.173078|2.173078	0.38413|0.38413	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000486042|ENST00000494943;ENST00000495893;ENST00000467570	.|T;T	.|0.29917	.|1.56;1.55	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.078909|0.078909	0.53938|0.53938	D|D	0.000045|0.000045	T|T	0.40743|0.40743	0.1129|0.1129	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.994;0.996	.|D;P;P	.|0.65573	.|0.936;0.755;0.876	T|T	0.03443|0.03443	-1.1036|-1.1036	6|10	.|0.17369	.|T	.|0.5	-10.2153|-10.2153	13.0629|13.0629	0.59018|0.59018	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|582;623;635	.|E7EX82;Q8NDX5;Q8NDX5-7	.|.;PHC3_HUMAN;.	E|R	96|623;635;582	.|ENSP00000420271:G623R;ENSP00000420294:G635R	.|ENSP00000419089:G582R	G|G	-|-	2|1	0|0	PHC3|PHC3	171323112|171323112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.637000|0.637000	0.38172|0.38172	3.110000|3.110000	0.50352|0.50352	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.393	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947	
FNDC3B	64778	broad.mit.edu	37	3	172096143	172096143	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:172096143A>G	ENST00000336824.4	+	24	3191	c.3092A>G	c.(3091-3093)cAg>cGg	p.Q1031R	FNDC3B_ENST00000416957.1_Missense_Mutation_p.Q1031R|FNDC3B_ENST00000415807.2_Missense_Mutation_p.Q1031R	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1031	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCAGAATCCAGGCAGCAAGC	0.493																																						uc003fhy.2																			0				ovary(2)|breast(1)	3						c.(3091-3093)CAG>CGG		fibronectin type III domain containing 3B							90.0	88.0	88.0					3																	172096143		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096143A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3092A>G	3.37:g.172096143A>G	ENSP00000338523:p.Gln1031Arg					FNDC3B_uc003fhz.3_Missense_Mutation_p.Q1031R	p.Q1031R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3264	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1031			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3092A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.760261	0.89932	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57907	0.37;0.37;0.37	5.26	5.26	0.73747	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049396	0.85682	D	0.000000	T	0.59824	0.2222	L	0.46614	1.455	0.80722	D	1	P	0.38048	0.616	P	0.51550	0.673	T	0.55673	-0.8104	10	0.27785	T	0.31	-11.6426	15.1591	0.72767	1.0:0.0:0.0:0.0	.	1031	Q53EP0	FND3B_HUMAN	R	1031	ENSP00000411242:Q1031R;ENSP00000338523:Q1031R;ENSP00000389094:Q1031R	ENSP00000338523:Q1031R	Q	+	2	0	FNDC3B	173578837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.935000	0.92923	1.982000	0.57802	0.533000	0.62120	CAG		0.493	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
SH3TC1	54436	broad.mit.edu	37	4	8229589	8229589	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:8229589C>T	ENST00000245105.3	+	12	2235	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P647L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	723										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGTGCCTGCCCCACCTGGTG	0.657																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			0				large_intestine(2)|pancreas(1)	3						c.(2167-2169)CCC>CTC		SH3 domain and tetratricopeptide repeats 1							56.0	56.0	56.0					4																	8229589		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8229589C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2168C>T	4.37:g.8229589C>T	ENSP00000245105:p.Pro723Leu					SH3TC1_uc003gkw.3_Missense_Mutation_p.P647L|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.P723L	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	2269	+			723					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2168C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374436	0.61735	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.77750	-1.12;-1.12	4.37	4.37	0.52481	.	0.138137	0.49305	D	0.000154	D	0.87334	0.6151	M	0.75615	2.305	0.53688	D	0.999971	D	0.67145	0.996	D	0.72075	0.976	D	0.88974	0.3403	10	0.59425	D	0.04	-36.625	16.9117	0.86142	0.0:1.0:0.0:0.0	.	723	Q8TE82	S3TC1_HUMAN	L	461;723;647;552	ENSP00000245105:P723L;ENSP00000441045:P647L	ENSP00000245105:P723L	P	+	2	0	SH3TC1	8280489	0.969000	0.33509	1.000000	0.80357	0.675000	0.39556	3.799000	0.55529	1.967000	0.57214	0.462000	0.41574	CCC		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
DRD5	1816	broad.mit.edu	37	4	9784937	9784937	+	Silent	SNP	C	C	T	rs201092734		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:9784937C>T	ENST00000304374.2	+	1	1680	c.1284C>T	c.(1282-1284)gaC>gaT	p.D428D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	428					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.D428D(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGGACAACGACGAGGAGGAGG	0.582																																						uc003gmb.3																			1	Substitution - coding silent(1)		endometrium(1)	skin(1)	1						c.(1282-1284)GAC>GAT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						86.0	75.0	79.0					4																	9784937		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784937C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1284C>T	4.37:g.9784937C>T							p.D428D	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1680	+			428			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.1284C>T	CCDS3405.1																																																																																				0.582	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
KIAA1211	57482	broad.mit.edu	37	4	57181748	57181748	+	Missense_Mutation	SNP	G	G	A	rs376583594		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:57181748G>A	ENST00000504228.1	+	6	2185	c.2080G>A	c.(2080-2082)Ggt>Agt	p.G694S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G694S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G687S			Q6ZU35	K1211_HUMAN	KIAA1211	694										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTTGAGGCCCGGTGATGAGTC	0.602																																						uc003hbk.2																			0				ovary(1)|skin(1)	2						c.(2080-2082)GGT>AGT		hypothetical protein LOC57482		G	SER/GLY	1,3981		0,1,1990	61.0	70.0	67.0		2080	1.5	0.0	4		67	0,8320		0,0,4160	no	missense	KIAA1211	NM_020722.1	56	0,1,6150	AA,AG,GG		0.0,0.0251,0.0081	possibly-damaging	694/1234	57181748	1,12301	1991	4160	6151	SO:0001583	missense	57482							g.chr4:57181748G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2080G>A	4.37:g.57181748G>A	ENSP00000423366:p.Gly694Ser					KIAA1211_uc010iha.2_Missense_Mutation_p.G687S|KIAA1211_uc011bzz.1_Missense_Mutation_p.G604S|KIAA1211_uc003hbm.1_Missense_Mutation_p.G580S	p.G694S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2471	+	Glioma(25;0.08)|all_neural(26;0.101)		694					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2080G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285918	0.23478	2.51E-4	0.0	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.01484	4.84;4.84;4.84	4.47	1.55	0.23275	.	.	.	.	.	T	0.01940	0.0061	L	0.37630	1.12	0.09310	N	1	P;P;D	0.55800	0.897;0.897;0.973	B;B;P	0.47075	0.197;0.197;0.536	T	0.42582	-0.9443	9	0.11485	T	0.65	-6.5685	5.2942	0.15743	0.5948:0.0:0.4052:0.0	.	687;687;694	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	694;694;687;604	ENSP00000264229:G694S;ENSP00000423366:G694S;ENSP00000444006:G687S	ENSP00000264229:G694S	G	+	1	0	KIAA1211	56876505	0.388000	0.25197	0.000000	0.03702	0.010000	0.07245	0.997000	0.29731	0.519000	0.28406	0.555000	0.69702	GGT		0.602	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
OTUD4	54726	broad.mit.edu	37	4	146077118	146077118	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:146077118C>T	ENST00000447906.2	-	8	847	c.660G>A	c.(658-660)gtG>gtA	p.V220V	OTUD4_ENST00000454497.2_Silent_p.V155V|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	220					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAAATCCATTCACATCAGCAG	0.328																																						uc003ika.3																			0				ovary(2)|breast(1)	3						c.(463-465)GTG>GTA		OTU domain containing 4 protein isoform 3							59.0	63.0	61.0					4																	146077118		2202	4300	6502	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146077118C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.660G>A	4.37:g.146077118C>T						OTUD4_uc003ijz.3_Silent_p.V155V	p.V155V	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			8	603	-	all_hematologic(180;0.151)		220					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.465G>A																																																																																					0.328	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
EFNA5	1946	broad.mit.edu	37	5	106762936	106762936	+	Nonsense_Mutation	SNP	G	G	A	rs142282920		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:106762936G>A	ENST00000333274.6	-	2	681	c.400C>T	c.(400-402)Cga>Tga	p.R134*	EFNA5_ENST00000509503.1_Nonsense_Mutation_p.R134*	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	134	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAATATTCTCGGCCTGGCCTG	0.428																																						uc003kol.2																			0					0						c.(400-402)CGA>TGA		ephrin-A5 precursor							43.0	45.0	44.0					5																	106762936		2202	4300	6502	SO:0001587	stop_gained	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106762936G>A	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.400C>T	5.37:g.106762936G>A	ENSP00000328777:p.Arg134*					EFNA5_uc010jbr.1_Nonsense_Mutation_p.R134*	p.R134*	NM_001962	NP_001953	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	2	682	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	134						Nonsense_Mutation	SNP	ENST00000333274.6	37	c.400C>T	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509089	0.64410	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4577	17.1422	0.86757	0.0:0.0:0.8725:0.1275	.	.	.	.	X	134	.	ENSP00000328777:R134X	R	-	1	2	EFNA5	106790835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.823000	0.62694	1.623000	0.50342	-0.152000	0.13540	CGA		0.428	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	
TBC1D9B	23061	broad.mit.edu	37	5	179315134	179315134	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:179315134C>T	ENST00000356834.3	-	7	1260	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R408K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	408						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGGCTTTCCTGCTCCCGAT	0.567																																						uc003mlh.2																			0				breast(1)|skin(1)	2						c.(1222-1224)AGG>AAG		TBC1 domain family, member 9B (with GRAM domain)							186.0	184.0	184.0					5																	179315134		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179315134C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1223G>A	5.37:g.179315134C>T	ENSP00000349291:p.Arg408Lys					TBC1D9B_uc003mli.2_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R408K	p.R408K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1260	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	408					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.1223G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	2.285	-0.363754	0.05103	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.08634	3.07;3.16	4.54	1.68	0.24146	.	0.854577	0.10249	N	0.697377	T	0.05731	0.0150	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15719	0.001;0.014;0.004	B;B;B	0.18871	0.007;0.023;0.01	T	0.43814	-0.9368	10	0.24483	T	0.36	-7.0762	6.6246	0.22823	0.0:0.6699:0.1568:0.1733	.	408;408;408	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	K	408	ENSP00000349291:R408K;ENSP00000347375:R408K	ENSP00000347375:R408K	R	-	2	0	TBC1D9B	179247740	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	1.256000	0.32921	0.603000	0.29913	0.491000	0.48974	AGG		0.567	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	
KHDRBS2	202559	broad.mit.edu	37	6	62604633	62604633	+	Silent	SNP	T	T	A	rs368894079		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr6:62604633T>A	ENST00000281156.4	-	6	995	c.717A>T	c.(715-717)gcA>gcT	p.A239A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	239	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGACACCTCTTGCTACAGGTG	0.607																																						uc003peg.2																			0				skin(7)|ovary(3)|liver(1)	11						c.(715-717)GCA>GCT		KH domain-containing, RNA-binding, signal							53.0	54.0	53.0					6																	62604633		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604633T>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.717A>T	6.37:g.62604633T>A							p.A239A	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	964	-			239			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.717A>T	CCDS4963.1																																																																																				0.607	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
GPR85	54329	broad.mit.edu	37	7	112724285	112724288	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:112724285_112724288delTGAG	ENST00000297146.3	-	3	1092_1095	c.489_492delCTCA	c.(487-492)tactcafs	p.YS163fs	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000424100.1_Frame_Shift_Del_p.YS163fs|GPR85_ENST00000449591.1_Frame_Shift_Del_p.YS163fs|GPR85_ENST00000501255.2_Frame_Shift_Del_p.YS163fs	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	163					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTAATGAATGAGTAAGTGCCCA	0.5																																						uc010ljv.2																			0				ovary(1)|central_nervous_system(1)	2						c.(487-492)TACTCAfs		G protein-coupled receptor 85																																				SO:0001589	frameshift_variant	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724285_112724288delTGAG	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.489_492delCTCA	7.37:g.112724285_112724288delTGAG	ENSP00000297146:p.Tyr163fs					GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs	p.Y163fs	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	1006_1009	-			163_164			Extracellular (Potential).		Q9JHI6|Q9NPD1	Frame_Shift_Del	DEL	ENST00000297146.3	37	c.489_492delCTCA	CCDS5758.1																																																																																				0.500	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2		
GIMAP6	474344	broad.mit.edu	37	7	150325381	150325381	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150325381G>A	ENST00000328902.5	-	3	521	c.305C>T	c.(304-306)cCc>cTc	p.P102L	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	102	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGACCTGGGGGGACAGAAT	0.622																																						uc003whn.2																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(304-306)CCC>CTC		GTPase, IMAP family member 6							75.0	78.0	77.0					7																	150325381		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325381G>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.305C>T	7.37:g.150325381G>A	ENSP00000330374:p.Pro102Leu					GIMAP6_uc003whm.2_Intron	p.P102L	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	729	-			102					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.305C>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087387	0.36855	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.36340	1.26	4.07	4.07	0.47477	AIG1 (1);	0.355032	0.29286	N	0.012598	T	0.35856	0.0946	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.22487	-1.0215	10	0.40728	T	0.16	.	11.6143	0.51080	0.0:0.0:1.0:0.0	.	102	Q6P9H5	GIMA6_HUMAN	L	102;163	ENSP00000330374:P102L	ENSP00000330374:P102L	P	-	2	0	GIMAP6	149956314	0.125000	0.22332	0.006000	0.13384	0.001000	0.01503	2.505000	0.45424	2.123000	0.65237	0.561000	0.74099	CCC		0.622	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711	
AOC1	26	broad.mit.edu	37	7	150554420	150554420	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150554420C>T	ENST00000493429.1	+	4	1446	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	AOC1_ENST00000360937.4_Missense_Mutation_p.R288C|AOC1_ENST00000467291.1_Missense_Mutation_p.R288C|AOC1_ENST00000416793.2_Missense_Mutation_p.R288C			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	288					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CCACAAGCCCCGCGGGGACTT	0.697																																						uc003why.1																			0				ovary(2)|breast(2)|skin(2)	6						c.(862-864)CGC>TGC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)																																			SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554420C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.862C>T	7.37:g.150554420C>T	ENSP00000418614:p.Arg288Cys					ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C	p.R288C	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5080	+	all_neural(206;0.219)		288					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.862C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104123	0.56291	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.16	5.16	0.70880	Copper amine oxidase, C-terminal (1);Copper amine oxidase, N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.38931	0.1059	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65443	0.935;0.895	T	0.08617	-1.0713	10	0.72032	D	0.01	-22.4394	16.1843	0.81939	0.0:1.0:0.0:0.0	.	288;288	C9J690;P19801	.;ABP1_HUMAN	C	288;288;288;288;164;288	ENSP00000418614:R288C;ENSP00000418328:R288C;ENSP00000354193:R288C;ENSP00000411613:R288C;ENSP00000417392:R288C	ENSP00000354193:R288C	R	+	1	0	ABP1	150185353	0.834000	0.29399	0.201000	0.23476	0.418000	0.31294	1.617000	0.36943	2.679000	0.91253	0.561000	0.74099	CGC		0.697	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091	
CPA6	57094	broad.mit.edu	37	8	68419124	68419124	+	Splice_Site	SNP	C	C	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:68419124C>G	ENST00000297770.4	-	6	750		c.e6-1		CPA6_ENST00000297769.4_Splice_Site|CPA6_ENST00000518549.1_Splice_Site	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6							proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTCTGCCCAGCTGAAAACAAG	0.408																																						uc003xxq.3																			0				ovary(2)	2						c.e6-1		carboxypeptidase A6 isoform 1 precursor							127.0	109.0	115.0					8																	68419124		2203	4300	6503	SO:0001630	splice_region_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68419124C>G	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.535-1G>C	8.37:g.68419124C>G						CPA6_uc003xxr.3_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice	p.L179_splice	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		6	791	-								Q8NEX8|Q8TDE8|Q9NRI9	Splice_Site	SNP	ENST00000297770.4	37	c.535_splice	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669872	0.88348	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5721	0.91138	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPA6	68581678	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.614000	0.74197	2.474000	0.83562	0.655000	0.94253	.		0.408	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	Intron
CDH17	1015	broad.mit.edu	37	8	95189845	95189845	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:95189845G>A	ENST00000027335.3	-	4	379	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CDH17_ENST00000450165.2_Silent_p.D85D|CDH17_ENST00000441892.2_Silent_p.D85D	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGTTTCCCTGTCCAAGGCTC	0.458																																						uc003ygh.2																			0				ovary(5)|skin(1)	6						c.(253-255)GAC>GAT		cadherin 17 precursor							216.0	205.0	209.0					8																	95189845		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95189845G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.255C>T	8.37:g.95189845G>A						CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D	p.D85D	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	380	-	Breast(36;4.65e-06)		85			Extracellular (Potential).|Cadherin 1.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.255C>T	CCDS6260.1																																																																																				0.458	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	
NFIB	4781	broad.mit.edu	37	9	14307244	14307244	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:14307244C>T	ENST00000380959.3	-	2	779	c.306G>A	c.(304-306)ccG>ccA	p.P102P	NFIB_ENST00000397579.2_Silent_p.P102P|NFIB_ENST00000380953.1_Silent_p.P102P|NFIB_ENST00000397581.2_Silent_p.P102P|NFIB_ENST00000380921.3_Silent_p.P102P|NFIB_ENST00000397575.3_Silent_p.P102P|NFIB_ENST00000380934.4_Silent_p.P128P	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	102					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGACACAGCACGGGTGCTTCT	0.527			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(304-306)CCG>CCA		nuclear factor I/B							137.0	136.0	137.0					9																	14307244		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307244C>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.306G>A	9.37:g.14307244C>T						NFIB_uc003zlf.2_Silent_p.P102P|NFIB_uc011lmo.1_Silent_p.P102P	p.P102P	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	741	-			102			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.306G>A	CCDS6474.1																																																																																				0.527	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	
SHB	6461	broad.mit.edu	37	9	37948668	37948668	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:37948668C>T	ENST00000377707.3	-	5	1875	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	437	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTGGTCTGGCTGTTCCGGAC	0.647																																						uc004aax.2																			0				central_nervous_system(2)|skin(1)	3						c.(1309-1311)AGC>AAC		Src homology 2 domain containing adaptor protein							66.0	77.0	73.0					9																	37948668		2175	4283	6458	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37948668C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1310G>A	9.37:g.37948668C>T	ENSP00000366936:p.Ser437Asn						p.S437N	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	5	1878	-		all_epithelial(88;0.122)	437			SH2.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1310G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052070	0.93793	.	.	ENSG00000107338	ENST00000377707	D	0.95069	-3.6	5.11	5.11	0.69529	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.98251	0.9421	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99486	1.0949	10	0.87932	D	0	-24.0704	16.378	0.83412	0.0:1.0:0.0:0.0	.	437	Q15464	SHB_HUMAN	N	437	ENSP00000366936:S437N	ENSP00000366936:S437N	S	-	2	0	SHB	37938668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.328000	0.79160	2.535000	0.85469	0.563000	0.77884	AGC		0.647	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1		
ALDOB	229	broad.mit.edu	37	9	104187273	104187273	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:104187273A>T	ENST00000374855.4	-	8	975	c.851T>A	c.(850-852)cTc>cAc	p.L284H	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	284			L -> P (in HFI). {ECO:0000269|PubMed:15880727}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GATAGCATTGAGGTTGAGAGT	0.517																																						uc004bbk.2																			0				skin(1)	1	GRCh37	CM051841	ALDOB	M		c.(850-852)CTC>CAC		aldolase B, fructose-bisphosphate							93.0	87.0	89.0					9																	104187273		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104187273A>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.851T>A	9.37:g.104187273A>T	ENSP00000363988:p.Leu284His						p.L284H	NM_000035	NP_000026	P05062	ALDOB_HUMAN			8	933	-		Acute lymphoblastic leukemia(62;0.0559)	284		L -> P (in HFI).			Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.851T>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810034	0.90707	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.95412	-3.7	5.81	5.81	0.92471	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99000	1.0811	10	0.87932	D	0	-11.6784	15.6368	0.76961	1.0:0.0:0.0:0.0	.	284	P05062	ALDOB_HUMAN	H	284;211;284	ENSP00000363988:L284H	ENSP00000363986:L211H	L	-	2	0	ALDOB	103227094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.343000	0.79666	0.533000	0.62120	CTC		0.517	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2		
PTGS1	5742	broad.mit.edu	37	9	125146014	125146014	+	Missense_Mutation	SNP	C	C	T	rs543848883		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:125146014C>T	ENST00000362012.2	+	8	994	c.989C>T	c.(988-990)aCg>aTg	p.T330M	PTGS1_ENST00000373698.5_Missense_Mutation_p.T221M|PTGS1_ENST00000223423.4_Missense_Mutation_p.T330M|PTGS1_ENST00000540753.1_Missense_Mutation_p.T305M	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	330					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTTTTCCAGACGACCCGCCTC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15752	0.0		0.0	False		,,,				2504	0.0					uc004bmg.1																			0				ovary(1)|skin(1)	2						c.(988-990)ACG>ATG		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						67.0	58.0	61.0					9																	125146014		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125146014C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.989C>T	9.37:g.125146014C>T	ENSP00000354612:p.Thr330Met					PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M	p.T330M	NM_000962	NP_000953	P23219	PGH1_HUMAN			8	1124	+			330					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.989C>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900465	0.92035	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.91444	0.5176	10	0.87932	D	0	-18.5197	17.9808	0.89140	0.0:1.0:0.0:0.0	.	305;330;330	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	M	305;330;330;221	ENSP00000437709:T305M;ENSP00000354612:T330M;ENSP00000223423:T330M;ENSP00000362802:T221M	ENSP00000223423:T330M	T	+	2	0	PTGS1	124185835	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.469000	0.83416	0.561000	0.74099	ACG		0.607	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		
COQ4	51117	broad.mit.edu	37	9	131088069	131088069	+	Missense_Mutation	SNP	G	G	A	rs572683310		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:131088069G>A	ENST00000300452.3	+	4	634	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	COQ4_ENST00000372875.3_Missense_Mutation_p.R104Q	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						GAGCGTCCCCGGATTTCGACA	0.587																																						uc004bur.3																			0					0						c.(310-312)CGG>CAG		coenzyme Q4 homolog precursor							87.0	79.0	81.0					9																	131088069		2203	4300	6503	SO:0001583	missense	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131088069G>A	AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"""coenzyme Q4 homolog (yeast)"", ""coenzyme Q4 homolog (S. cerevisiae)"""			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.311G>A	9.37:g.131088069G>A	ENSP00000300452:p.Arg104Gln					COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc004bus.2_Missense_Mutation_p.R80Q|COQ4_uc010mxy.2_Missense_Mutation_p.R80Q	p.R104Q	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN			4	658	+			104						Missense_Mutation	SNP	ENST00000300452.3	37	c.311G>A	CCDS6898.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287277	0.95517	.	.	ENSG00000167113	ENST00000300452;ENST00000372875	T;T	0.52295	0.67;0.67	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.73375	-0.4002	10	0.33141	T	0.24	-27.5308	20.3594	0.98849	0.0:0.0:1.0:0.0	.	104;104	Q5T4B9;Q9Y3A0	.;COQ4_HUMAN	Q	104	ENSP00000300452:R104Q;ENSP00000361966:R104Q	ENSP00000300452:R104Q	R	+	2	0	COQ4	130127890	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	8.703000	0.91344	2.816000	0.96949	0.563000	0.77884	CGG		0.587	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035	
KLHL15	80311	broad.mit.edu	37	X	24006559	24006559	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:24006559C>T	ENST00000328046.8	-	4	1549	c.1294G>A	c.(1294-1296)Ggt>Agt	p.G432S		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	432					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTGATTCCACCGGTGATAAAC	0.443																																						uc004dba.3																			0				ovary(1)|breast(1)	2						c.(1294-1296)GGT>AGT		kelch-like 15							167.0	137.0	147.0					X																	24006559		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006559C>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1294G>A	X.37:g.24006559C>T	ENSP00000332791:p.Gly432Ser						p.G432S	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			4	1550	-			432			Kelch 3.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1294G>A	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890845	0.72524	.	.	ENSG00000174010	ENST00000328046	D	0.82619	-1.63	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94206	0.7454	10	0.87932	D	0	.	18.6167	0.91305	0.0:1.0:0.0:0.0	.	432	Q96M94	KLH15_HUMAN	S	432	ENSP00000332791:G432S	ENSP00000332791:G432S	G	-	1	0	KLHL15	23916480	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.132000	0.77251	2.426000	0.82243	0.506000	0.49869	GGT		0.443	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383	
FGD1	2245	broad.mit.edu	37	X	54496521	54496521	+	Silent	SNP	G	G	A	rs374074159		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:54496521G>A	ENST00000375135.3	-	4	1762	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	343					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcgtcgtcctcctcct	0.627																																						uc004dtg.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1027-1029)GAC>GAT		faciogenital dysplasia protein		G		1,3834		0,1,1631,571	33.0	30.0	31.0		1029	-2.6	1.0	X		31	0,6728		0,0,2428,1872	no	coding-synonymous	FGD1	NM_004463.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		343/962	54496521	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496521G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1029C>T	X.37:g.54496521G>A						FGD1_uc011moi.1_Silent_p.D101D	p.D343D	NM_004463	NP_004454	P98174	FGD1_HUMAN			4	1763	-			343					Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.1029C>T	CCDS14359.1																																																																																				0.627	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
ZMYM3	9203	broad.mit.edu	37	X	70467290	70467290	+	Missense_Mutation	SNP	C	C	T	rs372250348		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:70467290C>T	ENST00000353904.2	-	13	2406	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R742H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R742H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R740H|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R740H	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	740					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAGAAATGACGGATCTGCCC	0.582																																						uc004dzh.1																			0				ovary(1)	1						c.(2218-2220)CGT>CAT		zinc finger protein 261		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	63.0	49.0	54.0		2219,2219,2219	5.2	1.0	X		54	1,6727		0,1,2427,1872	no	missense,missense,missense	ZMYM3	NM_001171162.1,NM_005096.3,NM_201599.2	29,29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging	740/1359,740/1371,740/1371	70467290	1,10562	2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70467290C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2219G>A	X.37:g.70467290C>T	ENSP00000343909:p.Arg740His					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.R740H|ZMYM3_uc004dzj.1_Missense_Mutation_p.R740H	p.R740H	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			13	2306	-	Renal(35;0.156)		740					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2219G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.951139	0.92660	0.0	1.49E-4	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.52057	1.3;0.68;1.3;1.28;1.3	5.16	5.16	0.70880	TRASH (1);Zinc finger, MYM-type (1);	0.104953	0.42294	D	0.000736	T	0.41213	0.1149	N	0.19112	0.55	0.36274	D	0.855339	D;D	0.62365	0.989;0.991	P;P	0.54590	0.642;0.756	T	0.52366	-0.8585	10	0.59425	D	0.04	-10.9432	5.3938	0.16259	0.0:0.7418:0.0:0.2582	.	740;740	Q14202-2;Q14202	.;ZMYM3_HUMAN	H	740;740;740;742;742	ENSP00000322845:R740H;ENSP00000363110:R740H;ENSP00000343909:R740H;ENSP00000363096:R742H;ENSP00000363100:R742H	ENSP00000322845:R740H	R	-	2	0	ZMYM3	70384015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.610000	0.67668	2.405000	0.81733	0.529000	0.55759	CGT		0.582	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
CAPN6	827	broad.mit.edu	37	X	110494147	110494147	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:110494147G>T	ENST00000324068.1	-	8	1323	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	CAPN6_ENST00000541758.1_Missense_Mutation_p.Q131K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	386	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.Q386K(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTCAAACCTGGGGATTCTGC	0.453																																						uc004epc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1156-1158)CAG>AAG		calpain 6							170.0	161.0	164.0					X																	110494147		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494147G>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1156C>A	X.37:g.110494147G>T	ENSP00000317214:p.Gln386Lys					CAPN6_uc011msu.1_Missense_Mutation_p.Q131K	p.Q386K	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			8	1324	-			386			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1156C>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129478	0.77549	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.89875	-2.58;-2.58	5.85	5.85	0.93711	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.287225	0.35495	N	0.003177	D	0.93151	0.7819	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93589	0.6919	10	0.87932	D	0	.	19.0586	0.93078	0.0:0.0:1.0:0.0	.	386	Q9Y6Q1	CAN6_HUMAN	K	386;131	ENSP00000317214:Q386K;ENSP00000441736:Q131K	ENSP00000317214:Q386K	Q	-	1	0	CAPN6	110380803	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	9.422000	0.97458	2.450000	0.82876	0.600000	0.82982	CAG		0.453	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
DDX26B	203522	broad.mit.edu	37	X	134714081	134714081	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:134714081G>C	ENST00000370752.4	+	15	2711	c.2377G>C	c.(2377-2379)Ggt>Cgt	p.G793R	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	793										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAAAGTTTGGTCGAAGTAA	0.373																																						uc004eyw.3																			0					0						c.(2377-2379)GGT>CGT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							57.0	53.0	54.0					X																	134714081		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134714081G>C	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2377G>C	X.37:g.134714081G>C	ENSP00000359788:p.Gly793Arg					DDX26B_uc004eyx.3_Missense_Mutation_p.G394R	p.G793R	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			15	2740	+	Acute lymphoblastic leukemia(192;6.56e-05)		793					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2377G>C	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084447	0.76642	.	.	ENSG00000165359	ENST00000370752	T	0.61510	0.1	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	M	0.84082	2.675	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82159	-0.0595	10	0.87932	D	0	-14.3882	16.921	0.86164	0.0:0.0:1.0:0.0	.	793;793	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	R	793	ENSP00000359788:G793R	ENSP00000359788:G793R	G	+	1	0	DDX26B	134541747	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.426000	0.80270	2.401000	0.81631	0.600000	0.82982	GGT		0.373	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	
GPR101	83550	broad.mit.edu	37	X	136113330	136113330	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:136113330G>A	ENST00000298110.1	-	1	503	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCCCAGCCGTAGAGTGGAG	0.607																																						uc011mwh.1																			0				ovary(3)|lung(1)|skin(1)	5						c.(502-504)TAC>TAT		G protein-coupled receptor 101							45.0	39.0	41.0					X																	136113330		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113330G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.504C>T	X.37:g.136113330G>A							p.Y168Y	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	504	-	Acute lymphoblastic leukemia(192;0.000127)		168			Helical; Name=4; (Potential).		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.504C>T	CCDS14662.1																																																																																				0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
SOX3	6658	broad.mit.edu	37	X	139587063	139587063	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:139587063C>T	ENST00000370536.2	-	1	162	c.163G>A	c.(163-165)Gct>Act	p.A55T		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	55					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGGCTGGAGCGGCCACGGTG	0.667																																						uc004fbd.1																			0				pancreas(1)	1						c.(163-165)GCT>ACT		SRY (sex determining region Y)-box 3							7.0	7.0	7.0					X																	139587063		2125	4153	6278	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139587063C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.163G>A	X.37:g.139587063C>T	ENSP00000359567:p.Ala55Thr						p.A55T	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	163	-	Acute lymphoblastic leukemia(192;7.65e-05)		55					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.163G>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	18.23	3.576934	0.65878	.	.	ENSG00000134595	ENST00000370536	D	0.97906	-4.6	4.07	3.13	0.36017	.	.	.	.	.	D	0.92456	0.7605	N	0.19112	0.55	0.21325	N	0.99972	B	0.25955	0.138	B	0.11329	0.006	D	0.85377	0.1117	8	.	.	.	.	6.921	0.24389	0.1884:0.6288:0.1829:0.0	.	55	P41225	SOX3_HUMAN	T	55	ENSP00000359567:A55T	.	A	-	1	0	SOX3	139414729	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	1.001000	0.29783	1.779000	0.52309	0.525000	0.51046	GCT		0.667	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1		
SLITRK2	84631	broad.mit.edu	37	X	144906039	144906039	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:144906039C>T	ENST00000370490.1	+	1	6351	c.2096C>T	c.(2095-2097)cCc>cTc	p.P699L	SLITRK2_ENST00000447897.2_Missense_Mutation_p.P699L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P699L|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P699L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P699L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	699					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAAAACCCCATCTACATG	0.478																																						uc004fcd.2																			0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2095-2097)CCC>CTC		SLIT and NTRK-like family, member 2 precursor							71.0	70.0	70.0					X																	144906039		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906039C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2096C>T	X.37:g.144906039C>T	ENSP00000359521:p.Pro699Leu					SLITRK2_uc010nsp.2_Missense_Mutation_p.P699L|SLITRK2_uc010nso.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.1_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.1_Missense_Mutation_p.P699L|SLITRK2_uc011mws.1_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.1_Missense_Mutation_p.P699L|CXorf1_uc004fch.2_5'Flank	p.P699L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	3086	+	Acute lymphoblastic leukemia(192;6.56e-05)		699			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2096C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071021	0.76301	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.60548	0.34;0.18;0.18;0.18;0.18;0.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	T	0.76732	-0.2851	10	0.72032	D	0.01	-7.69	15.3882	0.74718	0.0:1.0:0.0:0.0	.	699	Q9H156	SLIK2_HUMAN	L	699	ENSP00000334374:P699L;ENSP00000411681:P699L;ENSP00000359521:P699L;ENSP00000397015:P699L;ENSP00000407347:P699L;ENSP00000412010:P699L	ENSP00000334374:P699L	P	+	2	0	SLITRK2	144713731	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.224000	0.72417	0.513000	0.50165	CCC		0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
GPR50	9248	broad.mit.edu	37	X	150348278	150348278	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:150348278A>G	ENST00000218316.3	+	2	292	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	75					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGCCGATATGCTGGTGGC	0.507																																						uc010ntg.1																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(223-225)ATG>GTG		G protein-coupled receptor 50							316.0	307.0	310.0					X																	150348278		2137	4227	6364	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348278A>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.223A>G	X.37:g.150348278A>G	ENSP00000218316:p.Met75Val					uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.M75V	p.M75V	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	358	+	Acute lymphoblastic leukemia(192;6.56e-05)		75			Helical; Name=2; (Potential).		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.223A>G	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	A	3.869	-0.028345	0.07589	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.36699	1.24	4.26	-0.0614	0.13785	GPCR, rhodopsin-like superfamily (1);	0.124501	0.56097	D	0.000029	T	0.18923	0.0454	L	0.29908	0.895	0.31278	N	0.690901	B;B	0.06786	0.0;0.001	B;B	0.15052	0.001;0.012	T	0.04991	-1.0913	10	0.39692	T	0.17	-1.3497	1.2238	0.01929	0.3863:0.3289:0.1129:0.1719	.	28;75	F5H1S3;Q13585	.;MTR1L_HUMAN	V	28;75	ENSP00000218316:M75V	ENSP00000218316:M75V	M	+	1	0	GPR50	150098936	0.690000	0.27699	0.013000	0.15412	0.140000	0.21249	1.090000	0.30902	0.034000	0.15491	0.425000	0.28330	ATG		0.507	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
