#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
AURKAIP1	54998	broad.mit.edu	37	1	1309242	1309242	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:1309242G>A	ENST00000338370.3	-	3	939	c.539C>T	c.(538-540)gCg>gTg	p.A180V	AURKAIP1_ENST00000489799.1_5'Flank|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.A180V|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.A180V|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.A180V			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	180					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTTAGCCCCGCCTTCAGCCA	0.597																																						uc001afb.1																			0				kidney(1)|lung(2)	3						c.(538-540)gCg>gTg		Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.							54.0	60.0	58.0					1																	1309242		2203	4296	6499	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309242G>A		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.539C>T	1.37:g.1309242G>A	ENSP00000342676:p.Ala180Val					AURKAIP1_uc001afc.2_Missense_Mutation_p.A180V|AURKAIP1_uc009vkb.1_Missense_Mutation_p.A180V|AURKAIP1_uc001afd.2_Missense_Mutation_p.A180V	p.A180V	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	649	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	180					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.539C>T	CCDS25.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.689228	0.88735	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.53	4.53	0.55603	.	0.069725	0.56097	D	0.000029	T	0.70859	0.3272	M	0.73217	2.22	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.75175	-0.3410	10	0.87932	D	0	-13.694	14.7984	0.69894	0.0:0.0:1.0:0.0	.	180	Q9NWT8	AKIP_HUMAN	V	180	ENSP00000340656:A180V;ENSP00000342676:A180V;ENSP00000319778:A180V;ENSP00000368130:A180V	ENSP00000319778:A180V	A	-	2	0	AURKAIP1	1299105	1.000000	0.71417	0.984000	0.44739	0.877000	0.50540	8.872000	0.92352	2.216000	0.71823	0.655000	0.94253	GCG		0.597	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900	
APITD1	378708	broad.mit.edu	37	1	10493980	10493980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:10493980C>T	ENST00000309048.3	+	2	208	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	APITD1-CORT_ENST00000470413.2_Nonsense_Mutation_p.Q45*|APITD1_ENST00000602787.1_Nonsense_Mutation_p.Q45*|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000400900.2_Nonsense_Mutation_p.Q45*|APITD1_ENST00000602296.1_Nonsense_Mutation_p.Q45*|APITD1-CORT_ENST00000465026.1_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	45					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	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;3.31e-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)		GTTCAGCAAACAGACCATTGC	0.488																																						uc001arf.3																			0											c.(133-135)Cag>Tag		Homo sapiens APITD1-CORT readthrough (APITD1-CORT), transcript variant 1, mRNA.							144.0	136.0	139.0					1																	10493980		2203	4300	6503	SO:0001587	stop_gained	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10493980C>T	BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.133C>T	1.37:g.10493980C>T	ENSP00000308583:p.Gln45*					APITD1-CORT_uc001are.3_Nonsense_Mutation_p.Q45*|APITD1-CORT_uc021ogd.1_Nonsense_Mutation_p.Q45*|APITD1-CORT_uc021oge.1_Non-coding_Transcript|APITD1-CORT_uc021ogf.1_Intron|APITD1-CORT_uc021ogg.1_Intron	p.Q45*	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN			1	549	+			45					Q8NFE5|Q8NFG5	Nonsense_Mutation	SNP	ENST00000309048.3	37	c.133C>T	CCDS115.1	.	.	.	.	.	.	.	.	.	.	C	40	8.482028	0.98829	.	.	ENSG00000175279;ENSG00000175279;ENSG00000175279;ENSG00000251503;ENSG00000251503	ENST00000556104;ENST00000556817;ENST00000309048;ENST00000400900;ENST00000470413	.	.	.	6.17	6.17	0.99709	.	0.058361	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.1634	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000383692:Q45X	Q	+	1	0	APITD1-CORT;APITD1	10416567	1.000000	0.71417	0.549000	0.28204	0.938000	0.57974	6.139000	0.71728	2.941000	0.99782	0.655000	0.94253	CAG		0.488	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294	
DIRAS3	9077	broad.mit.edu	37	1	68512685	68512685	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:68512685C>G	ENST00000370981.1	-	4	932	c.296G>C	c.(295-297)cGc>cCc	p.R99P	DIRAS3_ENST00000395201.1_Missense_Mutation_p.R99P|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	99					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R99H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGAGCGCGGTTGCCGTC	0.587																																						uc021ooq.1																			1	Substitution - Missense(1)	p.R99H(2)	endometrium(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(295-297)cGc>cCc		Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.							112.0	118.0	116.0					1																	68512685		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512685C>G	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.296G>C	1.37:g.68512685C>G	ENSP00000360020:p.Arg99Pro					GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.R99P	p.R99P	NM_004675	NP_004666	O95661	DIRA3_HUMAN			0	296	-			99					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.296G>C	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.795115	0.00617	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.78126	-1.15;-1.15	0.427	0.427	0.16489	Small GTP-binding protein domain (1);	.	.	.	.	T	0.23492	0.0568	N	0.01128	-1	0.27924	N	0.93813	B	0.12013	0.005	B	0.06405	0.002	T	0.20974	-1.0259	8	0.29301	T	0.29	.	.	.	.	.	99	O95661	DIRA3_HUMAN	P	99	ENSP00000360020:R99P;ENSP00000378627:R99P	ENSP00000360020:R99P	R	-	2	0	DIRAS3	68285273	0.992000	0.36948	0.002000	0.10522	0.014000	0.08584	2.790000	0.47821	0.458000	0.26988	0.467000	0.42956	CGC		0.587	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675	
GON4L	54856	broad.mit.edu	37	1	155792117	155792117	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:155792117T>G	ENST00000368331.1	-	4	896	c.848A>C	c.(847-849)cAg>cCg	p.Q283P	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.Q283P|GON4L_ENST00000271883.5_Missense_Mutation_p.Q283P|GON4L_ENST00000361040.5_Missense_Mutation_p.Q283P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	283					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAGATTGTGCTGCTTGGCACC	0.458																																						uc001flz.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(847-849)cAg>cCg		Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.							370.0	281.0	311.0					1																	155792117		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155792117T>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.848A>C	1.37:g.155792117T>G	ENSP00000357315:p.Gln283Pro					GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.3_Missense_Mutation_p.Q283P|GON4L_uc001fmd.4_Missense_Mutation_p.Q283P|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.Q111P|GON4L_uc001fmf.3_5'Flank	p.Q283P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			3	945	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		283					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.848A>C		.	.	.	.	.	.	.	.	.	.	T	21.0	4.089795	0.76756	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14640	2.67;2.67;2.67;2.49	5.4	5.4	0.78164	.	0.066531	0.64402	D	0.000008	T	0.24122	0.0584	L	0.54323	1.7	0.44547	D	0.997504	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.989;0.975;0.989	T	0.00975	-1.1494	10	0.72032	D	0.01	.	15.2398	0.73461	0.0:0.0:0.0:1.0	.	283;283;283;283	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	P	283	ENSP00000396117:Q283P;ENSP00000357315:Q283P;ENSP00000271883:Q283P;ENSP00000354322:Q283P	ENSP00000271883:Q283P	Q	-	2	0	GON4L	154058741	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.318000	0.79029	2.270000	0.75569	0.459000	0.35465	CAG		0.458	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
OLFML2B	25903	broad.mit.edu	37	1	161993080	161993080	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:161993080G>A	ENST00000294794.3	-	1	564	c.141C>T	c.(139-141)aaC>aaT	p.N47N	OLFML2B_ENST00000367940.2_Silent_p.N47N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	47					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTCCGCCTCGTTTTGCAGAG	0.602																																						uc010pkq.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(139-141)aaC>aaT		Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.							154.0	130.0	138.0					1																	161993080		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161993080G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.141C>T	1.37:g.161993080G>A						OLFML2B_uc001gbu.3_Silent_p.N47N	p.N47N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		0	565	-	all_hematologic(112;0.156)		47					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.141C>T	CCDS1236.1																																																																																				0.602	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
SMG7	9887	broad.mit.edu	37	1	183514093	183514093	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:183514093C>T	ENST00000347615.2	+	16	2135	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	SMG7_ENST00000515829.2_Silent_p.P626P|SMG7_ENST00000507469.1_Silent_p.P626P|SMG7_ENST00000508461.1_Silent_p.P630P|SMG7_ENST00000456731.2_Silent_p.P584P|SMG7_ENST00000367537.3_Silent_p.P655P	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	672	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATGTTATCCCCCCGCCTGTGG	0.443																																						uc001gqg.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2014-2016)ccC>ccT		Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.							100.0	106.0	104.0					1																	183514093		2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514093C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2016C>T	1.37:g.183514093C>T						SMG7_uc010pob.2_Silent_p.P655P|SMG7_uc021pga.1_Silent_p.P584P|SMG7_uc001gqf.3_Silent_p.P626P|SMG7_uc001gqh.3_Silent_p.P626P|SMG7_uc010poc.2_Silent_p.P630P	p.P672P	NM_173156	NP_775179	Q92540	SMG7_HUMAN			15	2266	+			672			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.2016C>T	CCDS1355.1																																																																																				0.443	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
FAM129A	116496	broad.mit.edu	37	1	184787863	184787863	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:184787863C>T	ENST00000367511.3	-	9	1275	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FAM129A_ENST00000487074.1_5'UTR|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	361					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACTGAATCCCGAGCTCAC	0.537																																						uc001gra.3																			0		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1081-1083)gGa>gAa		Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.							187.0	177.0	180.0					1																	184787863		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787863C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1082G>A	1.37:g.184787863C>T	ENSP00000356481:p.Gly361Glu					FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	p.G361E	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			8	1276	-			361					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1082G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339772	0.81911	.	.	ENSG00000135842	ENST00000367511	T	0.18502	2.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.78456	2.415	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.45702	-0.9243	10	0.66056	D	0.02	-20.6478	16.5243	0.84326	0.0:1.0:0.0:0.0	.	361	Q9BZQ8	NIBAN_HUMAN	E	361	ENSP00000356481:G361E	ENSP00000356481:G361E	G	-	2	0	FAM129A	183054486	1.000000	0.71417	0.982000	0.44146	0.825000	0.46686	6.579000	0.74036	2.389000	0.81357	0.557000	0.71058	GGA		0.537	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
CFHR2	3080	broad.mit.edu	37	1	196884097	196884097	+	Intron	SNP	A	A	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:196884097A>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.K210Q|CFHR4_ENST00000608469.1_Missense_Mutation_p.K80Q|CFHR4_ENST00000367418.2_Missense_Mutation_p.K210Q|CFHR4_ENST00000367416.2_Missense_Mutation_p.K456Q			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TTCTTCAGAAAAGTGTGGGCC	0.358																																						uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1369-1371)Aag>Cag		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.							37.0	38.0	37.0					1																	196884097		2193	4276	6469	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196884097A>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34488A>C	1.37:g.196884097A>C						CFH_uc021pgt.1_Missense_Mutation_p.K80Q|CFH_uc009wyy.3_Missense_Mutation_p.K456Q|CFH_uc001gto.3_Missense_Mutation_p.K210Q	p.K457Q	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			8	1506	+			810			Sushi 8.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1369A>C		.	.	.	.	.	.	.	.	.	.	A	13.04	2.117085	0.37339	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65916	-0.18;-0.18;-0.18	3.16	1.95	0.26073	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.56485	0.1988	L	0.55743	1.74	0.09310	N	1	B;P;P	0.49559	0.409;0.925;0.454	B;P;B	0.46758	0.131;0.526;0.15	T	0.42716	-0.9435	9	0.26408	T	0.33	.	5.5529	0.17101	0.754:0.0:0.0:0.246	.	456;457;210	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	Q	456;210;210;210	ENSP00000356386:K456Q;ENSP00000356388:K210Q;ENSP00000251424:K210Q	ENSP00000251424:K210Q	K	+	1	0	CFHR4	195150720	0.000000	0.05858	0.006000	0.13384	0.462000	0.32619	0.509000	0.22707	0.217000	0.20800	0.166000	0.16787	AAG		0.358	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
HIST3H3	8290	broad.mit.edu	37	1	228612870	228612870	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:228612870G>A	ENST00000366696.1	-	1	156	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	53					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TGGTAGCGGCGGATCTCGCGA	0.652																																						uc001hsx.1																			0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(157-159)Cgc>Tgc		Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.							70.0	74.0	73.0					1																	228612870		2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612870G>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.157C>T	1.37:g.228612870G>A	ENSP00000355657:p.Arg53Cys						p.R53C	NM_003493	NP_003484	Q16695	H31T_HUMAN			0	157	-		Prostate(94;0.0724)	53					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.157C>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	g	11.20	1.569638	0.28003	.	.	ENSG00000168148	ENST00000366696	T	0.53857	0.6	3.89	2.96	0.34315	Histone-fold (2);	0.000000	0.39615	N	0.001304	T	0.80660	0.4665	H	0.99740	4.74	0.54753	D	0.999983	D	0.76494	0.999	P	0.58454	0.839	D	0.86659	0.1903	10	0.66056	D	0.02	.	11.1177	0.48270	0.0:0.0:0.8138:0.1862	.	53	Q16695	H31T_HUMAN	C	53	ENSP00000355657:R53C	ENSP00000355657:R53C	R	-	1	0	HIST3H3	226679493	1.000000	0.71417	0.977000	0.42913	0.006000	0.05464	9.002000	0.93572	1.179000	0.42884	-0.194000	0.12790	CGC		0.652	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493	
CCAR1	55749	broad.mit.edu	37	10	70496806	70496806	+	Splice_Site	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:70496806G>C	ENST00000265872.6	+	3	365		c.e3+1		Y_RNA_ENST00000352915.2_RNA|CCAR1_ENST00000543719.1_Splice_Site|CCAR1_ENST00000535016.1_Splice_Site	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTACAACAGGTAAATCTTTA	0.393																																						uc001joo.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.e3+1		Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.							29.0	28.0	28.0					10																	70496806		2203	4300	6503	SO:0001630	splice_region_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70496806G>C	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.246+1G>C	10.37:g.70496806G>C						CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.2_Splice_Site	p.Q82_splice	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			3	365	+			82					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Splice_Site	SNP	ENST00000265872.6	37	c.246_splice	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764763	0.69878	.	.	ENSG00000060339	ENST00000536391;ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8046	0.96525	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCAR1	70166812	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	8.806000	0.91930	2.748000	0.94277	0.655000	0.94253	.		0.393	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	Intron
CRTAC1	55118	broad.mit.edu	37	10	99664517	99664517	+	Missense_Mutation	SNP	C	C	T	rs149424033		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:99664517C>T	ENST00000370597.3	-	7	1260	c.905G>A	c.(904-906)cGt>cAt	p.R302H	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R302H|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R302H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	302						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R302H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTTGCCATCACGGTTGAAGTC	0.617																																						uc001kou.2																			1	Substitution - Missense(1)	p.R302H(2)	endometrium(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(904-906)cGt>cAt		Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	115.0	117.0		905,905	5.0	0.8	10	dbSNP_134	117	0,8600		0,0,4300	no	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	302/646,302/662	99664517	1,13005	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99664517C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.905G>A	10.37:g.99664517C>T	ENSP00000359629:p.Arg302His					CRTAC1_uc001kov.3_Missense_Mutation_p.R302H|CRTAC1_uc001kot.2_Missense_Mutation_p.R92H	p.R302H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	6	1261	-		Colorectal(252;0.24)	302					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.905G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000570	0.54254	2.27E-4	0.0	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.96	4.96	0.65561	.	0.123752	0.51477	D	0.000086	T	0.34919	0.0914	L	0.47716	1.5	0.47441	D	0.999423	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.62184	0.825;0.86;0.899	T	0.02047	-1.1223	10	0.38643	T	0.18	-4.5959	13.5628	0.61799	0.0:0.9229:0.0:0.0771	.	302;302;198	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	H	198;302;302;294;302	ENSP00000408445:R198H;ENSP00000359629:R302H;ENSP00000298819:R302H;ENSP00000310810:R294H;ENSP00000359623:R302H	ENSP00000298819:R302H	R	-	2	0	CRTAC1	99654507	0.977000	0.34250	0.820000	0.32676	0.958000	0.62258	4.887000	0.63156	2.303000	0.77524	0.561000	0.74099	CGT		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
RHOG	391	broad.mit.edu	37	11	3849147	3849147	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:3849147C>T	ENST00000351018.4	-	2	379	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RHOG_ENST00000396979.1_Silent_p.Q74Q|RHOG_ENST00000396978.1_Silent_p.Q74Q|RHOG_ENST00000533217.1_Silent_p.Q74Q	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	74					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAACGTTGGTCTGAGGGTAGG	0.602																																						uc021qcn.1																			0				endometrium(2)	2						c.(220-222)caG>caA		Homo sapiens ras homolog gene family, member G (rho G) (RHOG), mRNA.							87.0	71.0	76.0					11																	3849147		2201	4298	6499	SO:0001819	synonymous_variant	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3849147C>T	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"""ras homolog gene family, member G (rho G)"""	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.222G>A	11.37:g.3849147C>T						RHOG_uc001lyu.2_Silent_p.Q74Q	p.Q74Q	NM_001665	NP_001656	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	0	222	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	74					P35238|Q8NI04	Silent	SNP	ENST00000351018.4	37	c.222G>A	CCDS7748.1																																																																																				0.602	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665	
OR51F1	256892	broad.mit.edu	37	11	4790709	4790709	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:4790709C>A	ENST00000380383.1	-	1	459	c.460G>T	c.(460-462)Ggt>Tgt	p.G154C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.G147C			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGAAGACCCATTTGAATG	0.433																																						uc010qyl.2																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(439-441)Ggt>Tgt		Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.							95.0	97.0	96.0					11																	4790709		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790709C>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.460G>T	11.37:g.4790709C>A	ENSP00000369744:p.Gly154Cys						p.G147C	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	439	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	147						Missense_Mutation	SNP	ENST00000380383.1	37	c.439G>T		.	.	.	.	.	.	.	.	.	.	C	7.634	0.679448	0.14907	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.35236	1.32;1.32	5.03	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.719554	0.12765	N	0.440982	T	0.62405	0.2425	M	0.90483	3.12	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.51639	-0.8680	10	0.87932	D	0	.	8.84	0.35135	0.0:0.6049:0.0:0.3951	.	154	A6NGY5	O51F1_HUMAN	C	147;154	ENSP00000345163:G147C;ENSP00000369744:G154C	ENSP00000345163:G147C	G	-	1	0	OR51F1	4747285	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.447000	0.21710	0.050000	0.15949	-0.150000	0.13652	GGT		0.433	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752	
PPP6R3	55291	broad.mit.edu	37	11	68315674	68315674	+	Splice_Site	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:68315674T>G	ENST00000393800.2	+	5	806		c.e5+2		PPP6R3_ENST00000529710.1_Splice_Site|PPP6R3_ENST00000527403.2_Splice_Site|PPP6R3_ENST00000534534.1_Splice_Site|PPP6R3_ENST00000265636.5_Splice_Site|PPP6R3_ENST00000265637.4_Splice_Site|PPP6R3_ENST00000393801.3_Splice_Site|PPP6R3_ENST00000524845.1_Splice_Site|PPP6R3_ENST00000393799.2_Splice_Site|PPP6R3_ENST00000524904.1_Splice_Site	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3						regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTGCTGAATGTGAGTAGAATT	0.507																																						uc001onv.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e5+2		Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.							140.0	135.0	137.0					11																	68315674		2200	4294	6494	SO:0001630	splice_region_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68315674T>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.552+2T>G	11.37:g.68315674T>G						PPP6R3_uc010rqb.1_Splice_Site_p.N93_splice|PPP6R3_uc001onw.3_Splice_Site_p.N184_splice|PPP6R3_uc001ony.4_Splice_Site_p.N184_splice|PPP6R3_uc001onx.3_Splice_Site_p.N184_splice|PPP6R3_uc009ysh.3_Splice_Site_p.N184_splice|PPP6R3_uc001onu.3_Splice_Site_p.N184_splice|PPP6R3_uc010rqc.2_Splice_Site_p.N93_splice	p.N184_splice	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN			5	819	+			184					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Splice_Site	SNP	ENST00000393800.2	37	c.552_splice	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627223	0.87560	.	.	ENSG00000110075	ENST00000393799;ENST00000413788;ENST00000393800;ENST00000529907;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7793	0.69754	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP6R3	68072250	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.745000	0.85046	2.093000	0.63338	0.459000	0.35465	.		0.507	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	Intron
PCF11	51585	broad.mit.edu	37	11	82880169	82880169	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:82880169A>T	ENST00000298281.4	+	8	3244	c.2792A>T	c.(2791-2793)gAt>gTt	p.D931V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	931	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTAGGTTTGATGGACCTCAT	0.537																																						uc001ozx.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2791-2793)gAt>gTt		Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.							59.0	59.0	59.0					11																	82880169		1913	4130	6043	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880169A>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2792A>T	11.37:g.82880169A>T	ENSP00000298281:p.Asp931Val					PCF11_uc010rsu.1_Missense_Mutation_p.D1062V	p.D931V	NM_015885	NP_056969	O94913	PCF11_HUMAN			7	3137	+			931			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2792A>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629507	0.28978	.	.	ENSG00000165494	ENST00000298281	T	0.27256	1.68	6.07	6.07	0.98685	.	0.098040	0.45361	D	0.000379	T	0.16385	0.0394	N	0.19112	0.55	0.50039	D	0.999841	B	0.20052	0.041	B	0.16722	0.016	T	0.13710	-1.0499	9	.	.	.	-19.0229	11.4423	0.50105	0.8343:0.0:0.0:0.1657	.	931	O94913	PCF11_HUMAN	V	931	ENSP00000298281:D931V	.	D	+	2	0	PCF11	82557817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.105000	0.71505	2.326000	0.78906	0.533000	0.62120	GAT		0.537	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
Unknown	0	broad.mit.edu	37	11	89819888	89819889	+	IGR	INS	-	-	T	rs377696645	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:89819888_89819889insT								TRIM49C (13330 upstream) : SNORD56 (31669 downstream)																							TTGGCAGACGCTGGCAGCGCAT	0.495													|||unknown(NO_COVERAGE)	1012	0.202077	0.2504	0.1225	5008	,	,		13379	0.127		0.1779	False		,,,				2504	0.2955					uc010rub.2																			0											c.(769-774)cgctggfs		Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.				674,2076		75,524,776						1.1	0.0			4	1142,4700		184,774,1963	no	frameshift	UBTFL1	NM_001143975.1		259,1298,2739	A1A1,A1R,RR		19.5481,24.5091,21.1359				1816,6776				SO:0001628	intergenic_variant	642623				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr11:89819888_89819889insT																													11.37:g.89819889_89819889dupT							p.R257fs	NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN			0	771_772	+			257						Frame_Shift_Ins	INS		37	c.771_772insT																																																																																				0	0.495								
CNTN5	53942	broad.mit.edu	37	11	100211381	100211382	+	Splice_Site	INS	-	-	GT			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:100211381_100211382insGT	ENST00000524871.1	+	22	3207	c.2917_2917insGT	c.(2917-2919)cct>GTcct	p.P973fs	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Splice_Site_p.P973fs|CNTN5_ENST00000279463.3_Splice_Site_p.P973fs|CNTN5_ENST00000418526.2_Splice_Site_p.P899fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	973					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.?(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAAGAAATCCCGTAAGTGACCT	0.441																																						uc001pga.3																			2	Unknown(2)	p.?(2)	lung(2)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e22+1		Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100211381_100211382insGT	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2917+1->GT	11.37:g.100211382_100211383dupGT						CNTN5_uc021qpb.1_Splice_Site_p.P973_splice|CNTN5_uc021qpc.1_Splice_Site_p.P899_splice|CNTN5_uc010ruk.2_Splice_Site_p.P244_splice	p.P973_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	22	3421	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	973					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	INS	ENST00000524871.1	37	c.2917_splice	CCDS53696.1																																																																																				0.441	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Frame_Shift_Ins
ANO2	57101	broad.mit.edu	37	12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A	rs372991029		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:5908716G>A	ENST00000356134.5	-	11	1074	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	ANO2_ENST00000327087.8_Missense_Mutation_p.R334C|ANO2_ENST00000546188.1_Missense_Mutation_p.R335C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	339					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1000-1002)Cgc>Tgc		Homo sapiens anoctamin 2 (ANO2), mRNA.		G	CYS/ARG	1,3711		0,1,1855	78.0	71.0	73.0		1000	5.9	1.0	12		73	0,8220		0,0,4110	no	missense	ANO2	NM_020373.2	180	0,1,5965	AA,AG,GG		0.0,0.0269,0.0084	possibly-damaging	334/999	5908716	1,11931	1856	4110	5966	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5908716G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1003C>T	12.37:g.5908716G>A	ENSP00000348453:p.Arg335Cys						p.R334C	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			9	1072	-			339					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	11.97	1.796665	0.31777	2.69E-4	0.0	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.71461	-0.57;-0.57;-0.57	5.92	5.92	0.95590	.	0.048093	0.85682	D	0.000000	T	0.73369	0.3578	M	0.84948	2.725	0.58432	D	0.999999	P	0.36438	0.553	B	0.35353	0.201	T	0.76790	-0.2829	10	0.62326	D	0.03	.	12.8416	0.57806	0.0:0.0:0.745:0.255	.	334	Q9NQ90-3	.	C	334;335;335;339	ENSP00000314048:R334C;ENSP00000348453:R335C;ENSP00000440981:R335C	ENSP00000314048:R334C	R	-	1	0	ANO2	5778977	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	3.647000	0.54403	2.810000	0.96702	0.585000	0.79938	CGC		0.423	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
ABCC9	10060	broad.mit.edu	37	12	21965043	21965043	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:21965043G>T	ENST00000261201.4	-	34	4150	c.4151C>A	c.(4150-4152)aCa>aAa	p.T1384K	ABCC9_ENST00000261200.4_Missense_Mutation_p.T1384K|ABCC9_ENST00000345162.2_Missense_Mutation_p.T1348K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1384	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGAACGTAGTGTGTGCAGTGG	0.358																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4150-4152)aCa>aAa		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						230.0	199.0	210.0					12																	21965043		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21965043G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4151C>A	12.37:g.21965043G>T	ENSP00000261201:p.Thr1384Lys					ABCC9_uc001rfi.1_Missense_Mutation_p.T1384K	p.T1384K	NM_020297	NP_064693	O60706	ABCC9_HUMAN			33	4171	-			1384			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4151C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948896	0.53186	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	4.69	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	N	0.12887	0.27	0.58432	D	0.999999	D;D	0.67145	0.996;0.995	D;D	0.70016	0.967;0.911	D	0.92414	0.5940	10	0.56958	D	0.05	-15.7741	12.6125	0.56558	0.0802:0.0:0.9198:0.0	.	1384;1384	O60706;O60706-2	ABCC9_HUMAN;.	K	1384;1011;1384;1348	ENSP00000261200:T1384K;ENSP00000440521:T1011K;ENSP00000261201:T1384K;ENSP00000261202:T1348K	ENSP00000261200:T1384K	T	-	2	0	ABCC9	21856310	1.000000	0.71417	0.980000	0.43619	0.957000	0.61999	6.296000	0.72751	2.609000	0.88269	0.650000	0.86243	ACA		0.358	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
PIWIL1	9271	broad.mit.edu	37	12	130847606	130847606	+	Silent	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:130847606A>G	ENST00000245255.3	+	18	2384	c.2112A>G	c.(2110-2112)gtA>gtG	p.V704V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	704	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCGATGGCGTAGGAGACGGCC	0.478																																						uc001uik.3																			0		p.G703G(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2110-2112)gtA>gtG		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							117.0	115.0	116.0					12																	130847606		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847606A>G	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2112A>G	12.37:g.130847606A>G						PIWIL1_uc001uij.2_Silent_p.V704V	p.V704V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	17	2383	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		704			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.2112A>G	CCDS9268.1																																																																																				0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
FLT3	2322	broad.mit.edu	37	13	28597589	28597589	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:28597589T>A	ENST00000241453.7	-	19	2397	c.2316A>T	c.(2314-2316)aaA>aaT	p.K772N	FLT3_ENST00000380982.4_Missense_Mutation_p.K772N|FLT3_ENST00000537084.1_Missense_Mutation_p.K772N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	772	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCCAGCCTTTTTTGGTTTT	0.348			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.3				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2314-2316)aaA>aaT		Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						133.0	121.0	125.0					13																	28597589		2202	4300	6502	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28597589T>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2316A>T	13.37:g.28597589T>A	ENSP00000241453:p.Lys772Asn					FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.K772N	p.K772N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	18	2398	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	772			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2316A>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154392	0.57259	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89050	-2.46;-2.46;-2.46	5.28	-0.456	0.12190	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074878	0.56097	D	0.000025	D	0.84316	0.5445	L	0.34521	1.04	0.31174	N	0.702912	D;P	0.56035	0.974;0.676	P;B	0.50659	0.647;0.173	T	0.81726	-0.0801	10	0.30854	T	0.27	.	10.1459	0.42762	0.0:0.4128:0.0:0.5872	.	772;772	P36888-2;P36888	.;FLT3_HUMAN	N	772	ENSP00000241453:K772N;ENSP00000370369:K772N;ENSP00000438139:K772N	ENSP00000241453:K772N	K	-	3	2	FLT3	27495589	0.699000	0.27786	0.992000	0.48379	0.929000	0.56500	0.903000	0.28475	-0.207000	0.10187	-0.250000	0.11733	AAA		0.348	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	IGR	SNP	T	T	C	rs144184696	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:50466990T>C								RNY4P30 (3126 upstream) : RNY4P9 (15779 downstream)																							GTCTGTCCACTGAGGGGTTTT	0.517													C|||	775	0.154752	0.2171	0.147	5008	,	,		18092	0.1984		0.0716	False		,,,				2504	0.1166					uc001vdk.2																			0											c.(2263-2265)cTg>cCg		Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																																				SO:0001628	intergenic_variant	220429							g.chr13:50466990T>C																													13.37:g.50466990T>C							p.L755P							0	2446	+									Missense_Mutation	SNP		37	c.2264T>C																																																																																				0	0.517								
TMEM255B	348013	broad.mit.edu	37	13	114507939	114507939	+	Missense_Mutation	SNP	G	G	A	rs368613950		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:114507939G>A	ENST00000375353.3	+	8	778	c.751G>A	c.(751-753)Gca>Aca	p.A251T	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	251						integral component of membrane (GO:0016021)											CCTGGCCTACGCAGGCTTCCG	0.677																																						uc001vuh.3																			0				upper_aerodigestive_tract(1)	1						c.(751-753)Gca>Aca		Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.		G	THR/ALA	0,4404		0,0,2202	71.0	69.0	70.0		751	-8.4	0.0	13		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM70B	NM_182614.2	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	251/327	114507939	1,13003	2202	4300	6502	SO:0001583	missense	348013					integral to membrane		g.chr13:114507939G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.751G>A	13.37:g.114507939G>A	ENSP00000364502:p.Ala251Thr						p.A251T	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		7	778	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	251						Missense_Mutation	SNP	ENST00000375353.3	37	c.751G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	G	1.125	-0.654029	0.03480	0.0	1.16E-4	ENSG00000184497	ENST00000375353	T	0.44083	0.93	4.46	-8.37	0.00976	.	.	.	.	.	T	0.14227	0.0344	N	0.20530	0.585	0.09310	N	1	B	0.24963	0.115	B	0.17433	0.018	T	0.35624	-0.9781	9	0.02654	T	1	-4.2614	0.7311	0.00957	0.285:0.1117:0.2839:0.3194	.	251	Q8WV15	FA70B_HUMAN	T	251	ENSP00000364502:A251T	ENSP00000364502:A251T	A	+	1	0	FAM70B	113606004	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	-0.660000	0.05317	-1.382000	0.02109	-0.275000	0.10095	GCA		0.677	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614	
EDDM3B	64184	broad.mit.edu	37	14	21238424	21238424	+	Missense_Mutation	SNP	T	T	G	rs201861023		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:21238424T>G	ENST00000326783.3	+	2	213	c.115T>G	c.(115-117)Tta>Gta	p.L39V		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	39						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ACAGCACTACTTAAGTCCAAG	0.413																																						uc021ron.1																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(115-117)Tta>Gta		Homo sapiens epididymal protein 3B (EDDM3B), mRNA.							94.0	91.0	92.0					14																	21238424		2203	4300	6503	SO:0001583	missense	64184				spermatid development	extracellular region		g.chr14:21238424T>G	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"""family with sequence similarity 12, member B (epididymal)"""	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.115T>G	14.37:g.21238424T>G	ENSP00000314810:p.Leu39Val					EDDM3B_uc001vyd.3_Missense_Mutation_p.L39V	p.L39V	NM_022360	NP_071755	P56851	EP3B_HUMAN			0	115	+			39					A0PK89	Missense_Mutation	SNP	ENST00000326783.3	37	c.115T>G	CCDS9557.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	14.10	2.436098	0.43224	.	.	ENSG00000181552	ENST00000326783	T	0.72615	-0.67	4.05	-0.538	0.11868	Ribonuclease A, domain (3);	0.211058	0.23714	N	0.045300	T	0.65322	0.2680	L	0.59436	1.845	0.09310	N	1	P	0.47253	0.892	P	0.48770	0.589	T	0.59526	-0.7438	10	0.87932	D	0	.	2.6681	0.05058	0.3741:0.362:0.0:0.2638	.	39	P56851	EP3B_HUMAN	V	39	ENSP00000314810:L39V	ENSP00000314810:L39V	L	+	1	2	EDDM3B	20308264	0.012000	0.17670	0.000000	0.03702	0.743000	0.42351	0.005000	0.13129	-0.363000	0.08101	-0.516000	0.04426	TTA		0.413	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2		
CTSG	1511	broad.mit.edu	37	14	25042969	25042969	+	Silent	SNP	G	G	A	rs147260851		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:25042969G>A	ENST00000216336.2	-	5	678	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	214	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		16817	0.001		0.0	False		,,,				2504	0.0					uc001wpq.3																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(640-642)atC>atT		Homo sapiens cathepsin G (CTSG), mRNA.		G		12,4394	20.2+/-43.8	0,12,2191	112.0	121.0	118.0		642	-8.6	0.7	14	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	CTSG	NM_001911.2		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		214/256	25042969	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042969G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.642C>T	14.37:g.25042969G>A							p.I214I	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	679	-			214			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.642C>T	CCDS9631.1																																																																																				0.557	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911	
CDKL1	8814	broad.mit.edu	37	14	50802891	50802891	+	5'UTR	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:50802891A>G	ENST00000356146.1	-	0	2801				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TCACAGCCCCAGAAGCAAGCA	0.567																																						uc010anu.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(2800-2802)tcT>tcC		Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.							26.0	24.0	25.0					14																	50802891		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50802891A>G	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-181T>C	14.37:g.50802891A>G						CDKL1_uc001wxz.3_Intron	p.S934S	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			19	2802	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		0					Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	ENST00000356146.1	37	c.2802T>C																																																																																					0.567	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2		
FAM181A	90050	broad.mit.edu	37	14	94394937	94394937	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:94394937C>T	ENST00000267594.5	+	3	799	c.492C>T	c.(490-492)aaC>aaT	p.N164N	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.N102N|FAM181A_ENST00000556222.1_Silent_p.N102N|FAM181A_ENST00000557719.1_Silent_p.N102N	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	164				N -> S (in Ref. 2; BAC04151). {ECO:0000305}.						cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCTGAGGAACCCCTACAGGG	0.637																																						uc001ybz.2																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(490-492)aaC>aaT		Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.							33.0	40.0	38.0					14																	94394937		2202	4300	6502	SO:0001819	synonymous_variant	90050							g.chr14:94394937C>T	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.492C>T	14.37:g.94394937C>T						FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.N102N|FAM181A_uc021saz.1_Silent_p.N102N|FAM181A_uc010aus.2_Silent_p.N102N|FAM181A_uc001yca.2_Silent_p.N102N	p.N164N	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN			2	817	+			164	N -> S (in Ref. 2; BAC04151).				B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.492C>T	CCDS9914.1																																																																																				0.637	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
SLC12A6	9990	broad.mit.edu	37	15	34528395	34528395	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:34528395T>C	ENST00000354181.3	-	24	3540	c.3048A>G	c.(3046-3048)caA>caG	p.Q1016Q	SLC12A6_ENST00000290209.5_Silent_p.Q965Q|SLC12A6_ENST00000458406.2_Silent_p.Q957Q|SLC12A6_ENST00000560611.1_Silent_p.Q1016Q|SLC12A6_ENST00000451844.2_Silent_p.Q828Q|SLC12A6_ENST00000558667.1_Silent_p.Q1016Q|SLC12A6_ENST00000397707.2_Silent_p.Q1001Q|SLC12A6_ENST00000397702.2_Silent_p.Q957Q|SLC12A6_ENST00000560164.1_Silent_p.Q828Q|SLC12A6_ENST00000558589.1_Silent_p.Q1007Q			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1016					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTTCACCAATTGTGCCTGAG	0.413																																						uc001zhw.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(3046-3048)caA>caG		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	Potassium Chloride(DB00761)						105.0	88.0	94.0					15																	34528395		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528395T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.3048A>G	15.37:g.34528395T>C						SLC12A6_uc001zhv.3_Silent_p.Q965Q|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.Q1001Q|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.Q957Q|SLC12A6_uc001zib.3_Silent_p.Q1007Q|SLC12A6_uc001zic.3_Silent_p.Q1016Q|SLC12A6_uc010bau.3_Silent_p.Q1016Q|SLC12A6_uc001zid.3_Silent_p.Q957Q|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.Q828Q	p.Q1016Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3212	-		all_lung(180;2.78e-08)	1016					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.3048A>G	CCDS58352.1																																																																																				0.413	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
LMAN1L	79748	broad.mit.edu	37	15	75116023	75116023	+	Splice_Site	SNP	G	G	A	rs147808783	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:75116023G>A	ENST00000309664.5	+	12	1462	c.1323G>A	c.(1321-1323)gcG>gcA	p.A441A	CPLX3_ENST00000395018.4_5'Flank|RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site_p.A429A	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	441						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGCCCGGCGGTGAGGGGAA	0.622													G|||	3	0.000599042	0.0	0.0	5008	,	,		17863	0.001		0.002	False		,,,				2504	0.0					uc002ayt.1																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e12+1		Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.		G		1,4393	2.1+/-5.4	0,1,2196	38.0	40.0	39.0		1323	1.3	0.0	15	dbSNP_134	39	1,8589	1.2+/-3.3	0,1,4294	yes	coding-synonymous-near-splice	LMAN1L	NM_021819.2		0,2,6490	AA,AG,GG		0.0116,0.0228,0.0154		441/527	75116023	2,12982	2197	4295	6492	SO:0001630	splice_region_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116023G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1323+1G>A	15.37:g.75116023G>A						LMAN1L_uc010bke.1_Splice_Site_p.A429_splice|CPLX3_uc002ayu.1_5'Flank	p.A441_splice	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			12	1325	+			441					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1323_splice	CCDS10270.1																																																																																				0.622	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		Silent
WASH4P	374677	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A	rs200079147		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S	Z84812.4_ENST00000568710.1_RNA|DDX11L10_ENST00000513886.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	232					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597																																						uc002cfg.1																			1	Substitution - coding silent(1)	p.S232S(1)	kidney(1)								c.(694-696)agC>agT		Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.																																				SO:0001819	synonymous_variant	100287171				Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	early endosome membrane|recycling endosome membrane|WASH complex	actin binding|alpha-tubulin binding	g.chr16:66940G>A			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.696C>T	16.37:g.66940G>A							p.S232S	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	4	1355	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	219						Silent	SNP	ENST00000326592.9	37	c.696C>T																																																																																					0.597	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159	
ZG16B	124220	broad.mit.edu	37	16	2880250	2880251	+	Start_Codon_Ins	INS	-	-	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:2880250_2880251insG	ENST00000382280.3	+	0	81_82				ZG16B_ENST00000572863.1_5'Flank	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B						retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCCTTCTGGATGGGGGCCCAGG	0.683																																						uc002cru.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(1-3)atgfs		Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.				42,3442		2,38,1702						-6.2	0.0			19	87,7697		2,83,3807	no	frameshift	ZG16B	NM_145252.2		4,121,5509	A1A1,A1R,RR		1.1177,1.2055,1.1448				129,11139				SO:0001582	initiator_codon_variant	124220					extracellular region	sugar binding	g.chr16:2880250_2880251insG	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.7dupG	16.37:g.2880255_2880255dupG							p.M1fs	NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN			0	78_79	+			1					A6NIY1|B2R4F6|Q6UW28	Frame_Shift_Ins	INS	ENST00000382280.3	37	c.2_3insG	CCDS10479.2																																																																																				0.683	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252	
DNAH3	55567	broad.mit.edu	37	16	20974846	20974846	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:20974846A>T	ENST00000261383.3	-	53	10359	c.10360T>A	c.(10360-10362)Tgg>Agg	p.W3454R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3454					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGGGCCAGGCCGAGTCA	0.532																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10360-10362)Tgg>Agg		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							93.0	75.0	81.0					16																	20974846		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20974846A>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10360T>A	16.37:g.20974846A>T	ENSP00000261383:p.Trp3454Arg					DNAH3_uc010vbd.2_Missense_Mutation_p.W889R	p.W3454R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	10360	-			3454					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10360T>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	3.473	-0.107623	0.06924	.	.	ENSG00000158486	ENST00000261383	T	0.07327	3.2	5.39	3.01	0.34805	Dynein heavy chain (1);	1.217090	0.05744	N	0.601874	T	0.01940	0.0061	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.31971	-0.9924	10	0.25106	T	0.35	.	4.4533	0.11631	0.5545:0.0:0.0982:0.3472	.	3454	Q8TD57	DYH3_HUMAN	R	3454	ENSP00000261383:W3454R	ENSP00000261383:W3454R	W	-	1	0	DNAH3	20882347	0.906000	0.30813	0.918000	0.36340	0.798000	0.45092	2.136000	0.42121	2.040000	0.60383	0.460000	0.39030	TGG		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
SRCAP	10847	broad.mit.edu	37	16	30748842	30748842	+	Missense_Mutation	SNP	G	G	C	rs200066296		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748842G>C	ENST00000262518.4	+	34	7866	c.7481G>C	c.(7480-7482)tGt>tCt	p.C2494S	SRCAP_ENST00000395059.2_Missense_Mutation_p.C2432S|SRCAP_ENST00000344771.4_Missense_Mutation_p.C2336S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2494	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			attcctccttgttcttctcct	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19086	0.0		0.001	False		,,,				2504	0.0					uc002dze.1																			0		p.P2493S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7480-7482)tGt>tCt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							218.0	154.0	176.0					16																	30748842		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748842G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7481G>C	16.37:g.30748842G>C	ENSP00000262518:p.Cys2494Ser					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S	p.C2494S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	7866	+			2494			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7481G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	5.357	0.251176	0.10130	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.89939	-2.59;-2.58;-2.58	3.58	2.62	0.31277	.	0.571372	0.14687	N	0.304361	T	0.73024	0.3534	N	0.08118	0	0.23665	N	0.997164	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56854	-0.7910	10	0.09084	T	0.74	0.043	8.2046	0.31446	0.0:0.4508:0.5492:0.0	.	2432;2494	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2494;2432;2336	ENSP00000262518:C2494S;ENSP00000378499:C2432S;ENSP00000343042:C2336S	ENSP00000262518:C2494S	C	+	2	0	SRCAP	30656343	1.000000	0.71417	0.993000	0.49108	0.760000	0.43138	1.121000	0.31283	1.100000	0.41517	0.313000	0.20887	TGT		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
SRCAP	10847	broad.mit.edu	37	16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G	rs201185965		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748845C>G	ENST00000262518.4	+	34	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2433C|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2337C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2495	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cctccttgttcttctcctgcc	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18950	0.0		0.001	False		,,,				2504	0.0					uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7483-7485)tCt>tGt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							216.0	154.0	175.0					16																	30748845		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748845C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7484C>G	16.37:g.30748845C>G	ENSP00000262518:p.Ser2495Cys					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C	p.S2495C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	7869	+			2495			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7484C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093414	0.08632	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91740	-2.9;-2.87;-2.88	3.48	1.42	0.22433	.	0.207581	0.24336	N	0.039410	T	0.80391	0.4614	N	0.08118	0	0.19575	N	0.999961	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.67007	-0.5779	10	0.26408	T	0.33	-0.0335	9.7542	0.40494	0.0:0.5749:0.4251:0.0	.	2433;2495	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	2495;2433;2337	ENSP00000262518:S2495C;ENSP00000378499:S2433C;ENSP00000343042:S2337C	ENSP00000262518:S2495C	S	+	2	0	SRCAP	30656346	0.998000	0.40836	0.994000	0.49952	0.750000	0.42670	1.133000	0.31430	0.477000	0.27464	0.121000	0.15741	TCT		0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
ITGAD	3681	broad.mit.edu	37	16	31429674	31429674	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:31429674G>T	ENST00000389202.2	+	22	2718	c.2669G>T	c.(2668-2670)aGg>aTg	p.R890M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	890					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGAGACAGGATGCTTATG	0.572																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2671-2673)aGg>aTg		Homo sapiens integrin, alpha D (ITGAD), mRNA.							113.0	108.0	110.0					16																	31429674		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31429674G>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2669G>T	16.37:g.31429674G>T	ENSP00000373854:p.Arg890Met					ITGAD_uc002ebv.1_Missense_Mutation_p.R890M	p.R891M	NM_005353	NP_005344	Q13349	ITAD_HUMAN			21	2721	+			890					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2672G>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687599	0.48097	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.46063	0.88	5.06	-0.428	0.12306	Integrin alpha-2 (1);	.	.	.	.	T	0.49712	0.1573	L	0.49778	1.585	0.09310	N	1	D;D	0.65815	0.995;0.991	D;D	0.65684	0.937;0.937	T	0.35649	-0.9780	9	0.62326	D	0.03	.	5.3219	0.15885	0.2104:0.0:0.6189:0.1707	.	906;890	Q59H14;Q13349	.;ITAD_HUMAN	M	906;890	ENSP00000373854:R890M	ENSP00000373854:R890M	R	+	2	0	ITGAD	31337175	0.000000	0.05858	0.155000	0.22561	0.773000	0.43773	-0.032000	0.12266	0.035000	0.15519	0.655000	0.94253	AGG		0.572	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
PLA2G15	23659	broad.mit.edu	37	16	68288909	68288909	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:68288909G>A	ENST00000219345.5	+	3	455	c.372G>A	c.(370-372)ctG>ctA	p.L124L	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Nonsense_Mutation_p.W72*|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_Silent_p.L124L|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	124					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTTCTCACTGGAGTTCCTGG	0.572																																						uc002evr.3																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(370-372)ctG>ctA		Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.							89.0	88.0	88.0					16																	68288909		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68288909G>A	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.372G>A	16.37:g.68288909G>A						PLA2G15_uc010vld.2_Silent_p.L124L|PLA2G15_uc010vle.2_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_5'UTR	p.L124L	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN			2	455	+			124					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.372G>A	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494725	0.85069	.	.	ENSG00000103066	ENST00000413021	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.6055	19.5129	0.95151	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000394197:W72X	W	+	2	0	PLA2G15	66846410	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.762000	0.62250	2.722000	0.93159	0.655000	0.94253	TGG		0.572	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320	
ITGAE	3682	broad.mit.edu	37	17	3651273	3651273	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:3651273C>T	ENST00000263087.4	-	17	2196	c.2098G>A	c.(2098-2100)Gtc>Atc	p.V700I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	700					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACATTCACGACGCCGTTGAAG	0.542																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2098-2100)Gtc>Atc		Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.							81.0	75.0	77.0					17																	3651273		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3651273C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2098G>A	17.37:g.3651273C>T	ENSP00000263087:p.Val700Ile						p.V700I	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	16	2197	-			700					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2098G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	9.613	1.131753	0.21041	.	.	ENSG00000083457	ENST00000263087	T	0.45668	0.89	4.68	2.37	0.29283	Integrin alpha-2 (1);	.	.	.	.	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.26635	0.155	B	0.10450	0.005	T	0.15492	-1.0435	9	0.59425	D	0.04	.	4.6514	0.12596	0.0:0.1075:0.1941:0.6984	.	700	P38570	ITAE_HUMAN	I	700	ENSP00000263087:V700I	ENSP00000263087:V700I	V	-	1	0	ITGAE	3598022	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.552000	0.23376	0.346000	0.23899	-0.312000	0.09012	GTC		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
DVL2	1856	broad.mit.edu	37	17	7134114	7134114	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:7134114A>C	ENST00000005340.5	-	2	479	c.197T>G	c.(196-198)gTg>gGg	p.V66G	DVL2_ENST00000575458.1_Missense_Mutation_p.V66G|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	66	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTCCTTCACCACCCTGCCAAG	0.577																																						uc002gez.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(196-198)gTg>gGg		Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.							122.0	110.0	114.0					17																	7134114		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7134114A>C	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.197T>G	17.37:g.7134114A>C	ENSP00000005340:p.Val66Gly					DVL2_uc010vtr.1_Missense_Mutation_p.V66G|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.V66G	p.V66G	NM_004422	NP_004413	O14641	DVL2_HUMAN			1	479	-			66			DIX.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.197T>G	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193350	0.78902	.	.	ENSG00000004975	ENST00000005340	T	0.49432	0.78	4.69	4.69	0.59074	DIX (3);	0.000000	0.64402	D	0.000001	T	0.73760	0.3628	M	0.93978	3.48	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.996	D;D;D	0.81914	0.995;0.951;0.983	T	0.79926	-0.1597	10	0.87932	D	0	-20.1717	10.4569	0.44557	1.0:0.0:0.0:0.0	.	66;66;66	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	G	66	ENSP00000005340:V66G	ENSP00000005340:V66G	V	-	2	0	DVL2	7074838	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.729000	0.91490	1.979000	0.57680	0.496000	0.49642	GTG		0.577	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
KRT16P2	400578	broad.mit.edu	37	17	16734727	16734727	+	RNA	SNP	C	C	A	rs659569		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:16734727C>A	ENST00000579062.1	-	0	563									keratin 16 pseudogene 2									p.E226*(2)									CACACCTCCTCGTGGTTCTTC	0.632																																						uc010vwr.1																			2	Substitution - Nonsense(2)	p.E226*(2)	prostate(1)|endometrium(1)								c.(406-408)Gag>Tag		Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																																						400578							g.chr17:16734727C>A			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734727C>A							p.E136*							2	848	-									Nonsense_Mutation	SNP	ENST00000579062.1	37	c.406G>T																																																																																					0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392	
LGALS9B	284194	broad.mit.edu	37	17	20363749	20363749	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:20363749G>C	ENST00000423676.3	-	2	110	c.47C>G	c.(46-48)cCc>cGc	p.P16R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.P16R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	16							carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCCAGAAAAGGGGACGGCCTG	0.602																																						uc002gxa.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(46-48)cCc>cGc		Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.							72.0	62.0	65.0					17																	20363749		2201	4292	6493	SO:0001583	missense	284194						sugar binding	g.chr17:20363749G>C		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.47C>G	17.37:g.20363749G>C	ENSP00000388841:p.Pro16Arg					LGALS9B_uc002gwz.1_Missense_Mutation_p.P16R|LGALS9B_uc010vzh.1_Intron	p.P16R	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN			1	112	-			16					A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.47C>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.003025	0.35320	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.27720	1.65;1.65	2.33	2.33	0.28932	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (2);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	H	0.96175	3.78	0.20821	N	0.999848	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55742	-0.8093	10	0.87932	D	0	.	8.2014	0.31428	0.0:0.0:1.0:0.0	.	16;16	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	R	16	ENSP00000388841:P16R;ENSP00000315564:P16R	ENSP00000315564:P16R	P	-	2	0	LGALS9B	20304341	1.000000	0.71417	0.055000	0.19348	0.048000	0.14542	5.488000	0.66869	1.318000	0.45170	0.194000	0.17425	CCC		0.602	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685	
KRTAP4-8	728224	broad.mit.edu	37	17	39254142	39254142	+	Silent	SNP	A	A	G	rs375280428	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:39254142A>G	ENST00000333822.4	-	1	251	c.195T>C	c.(193-195)tgT>tgC	p.C65C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	65	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGGGCGACAGCAGGTGG	0.657													G|||	2063	0.411941	0.469	0.4352	5008	,	,		13020	0.3234		0.4453	False		,,,				2504	0.3753					uc010wfo.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(193-195)tgT>tgC		Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.							6.0	9.0	8.0					17																	39254142		633	1475	2108	SO:0001819	synonymous_variant	728224					keratin filament		g.chr17:39254142A>G	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.195T>C	17.37:g.39254142A>G							p.C65C	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			0	234	-			65			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Silent	SNP	ENST00000333822.4	37	c.195T>C	CCDS45674.1																																																																																				0.657	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
IGF2BP1	10642	broad.mit.edu	37	17	47115627	47115627	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:47115627C>T	ENST00000290341.3	+	6	833	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	167					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGAATGGGCGCCGAGGGGG	0.637																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(499-501)Cgc>Tgc		Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.							46.0	52.0	50.0					17																	47115627		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115627C>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.499C>T	17.37:g.47115627C>T	ENSP00000290341:p.Arg167Cys					IGF2BP1_uc010dbj.3_Intron	p.R167C	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			5	833	+			167					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.499C>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964623	0.53507	.	.	ENSG00000159217	ENST00000290341	T	0.19938	2.11	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);	0.129178	0.52532	D	0.000063	T	0.28896	0.0717	L	0.31926	0.97	0.80722	D	1	D	0.71674	0.998	P	0.51657	0.676	T	0.00936	-1.1508	10	0.51188	T	0.08	-10.8668	19.0998	0.93269	0.0:1.0:0.0:0.0	.	167	Q9NZI8	IF2B1_HUMAN	C	167	ENSP00000290341:R167C	ENSP00000290341:R167C	R	+	1	0	IGF2BP1	44470626	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.065000	0.41442	2.585000	0.87301	0.655000	0.94253	CGC		0.637	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
TNFSF14	8740	broad.mit.edu	37	19	6669978	6669978	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:6669978C>A	ENST00000599359.1	-	2	484	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	TNFSF14_ENST00000245912.3_Missense_Mutation_p.V35L|TNFSF14_ENST00000326176.9_Missense_Mutation_p.V35L			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	35					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCCGGGCCACACTGCACGAC	0.632																																						uc002mfk.2																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(103-105)Gtg>Ttg		Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.							129.0	112.0	118.0					19																	6669978		2203	4300	6503	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6669978C>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.103G>T	19.37:g.6669978C>A	ENSP00000469049:p.Val35Leu					TNFSF14_uc002mfj.2_Missense_Mutation_p.V35L	p.V35L	NM_003807	NP_003798	O43557	TNF14_HUMAN			1	485	-			35					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.103G>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	c	6.789	0.514592	0.12944	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T;T	0.32988	1.43;1.43	5.04	-2.84	0.05751	.	1.227770	0.06199	N	0.682870	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.009;0.015	B;B	0.12837	0.004;0.008	T	0.27191	-1.0081	10	0.08179	T	0.78	-4.3728	3.0359	0.06122	0.1275:0.3405:0.3676:0.1644	.	35;35	O43557;O43557-2	TNF14_HUMAN;.	L	35	ENSP00000245912:V35L;ENSP00000326940:V35L	ENSP00000245912:V35L	V	-	1	0	TNFSF14	6620978	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.537000	0.06128	-0.275000	0.09219	-1.027000	0.02421	GTG		0.632	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		
ZNF560	147741	broad.mit.edu	37	19	9579010	9579010	+	Splice_Site	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:9579010C>T	ENST00000301480.4	-	10	826	c.613G>A	c.(613-615)Gca>Aca	p.A205T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGGTTTCTTGCCTGTTAACAC	0.338																																						uc002mlp.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.e10-1		Homo sapiens zinc finger protein 560 (ZNF560), mRNA.							61.0	48.0	53.0					19																	9579010		2203	4300	6503	SO:0001630	splice_region_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9579010C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.613-1G>A	19.37:g.9579010C>T						ZNF560_uc010dwr.1_Splice_Site_p.A99_splice	p.A205_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	823	-			205					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.613_splice	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119692	0.20877	.	.	ENSG00000198028	ENST00000301480	T	0.52526	0.66	2.15	1.03	0.20045	.	.	.	.	.	T	0.24586	0.0596	N	0.12746	0.255	0.09310	N	1	B	0.22683	0.073	B	0.12837	0.008	T	0.16129	-1.0413	9	0.49607	T	0.09	.	3.3166	0.07035	0.0:0.5509:0.282:0.1671	.	205	Q96MR9	ZN560_HUMAN	T	205	ENSP00000301480:A205T	ENSP00000301480:A205T	A	-	1	0	ZNF560	9440010	0.010000	0.17322	0.058000	0.19502	0.604000	0.37047	-0.229000	0.09098	0.422000	0.26005	0.561000	0.74099	GCA		0.338	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	Missense_Mutation
OR1I1	126370	broad.mit.edu	37	19	15198267	15198267	+	Missense_Mutation	SNP	C	C	T	rs372952340		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:15198267C>T	ENST00000209540.2	+	1	477	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCACCCACAGCGTTACTTGGT	0.567																																						uc010xoe.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						c.(391-393)Cgt>Tgt		Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	85.0	71.0	76.0		391	2.7	0.0	19		76	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR1I1	NM_001004713.1	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	131/356	15198267	2,13004	2203	4300	6503	SO:0001583	missense	126370				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15198267C>T	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.391C>T	19.37:g.15198267C>T	ENSP00000209540:p.Arg131Cys						p.R131C	NM_001004713	NP_001004713	O60431	OR1I1_HUMAN			0	391	+			131					Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	c.391C>T	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	c	11.39	1.624049	0.28889	0.0	2.33E-4	ENSG00000094661	ENST00000209540	T	0.01584	4.75	4.8	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.258488	0.20346	U	0.094146	T	0.04092	0.0114	L	0.45228	1.405	0.09310	N	1	D	0.64830	0.994	P	0.56042	0.79	T	0.29579	-1.0007	10	0.87932	D	0	.	9.2111	0.37320	0.0:0.8206:0.0:0.1794	.	131	O60431	OR1I1_HUMAN	C	131	ENSP00000209540:R131C	ENSP00000209540:R131C	R	+	1	0	OR1I1	15059267	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.982000	0.29539	0.632000	0.30432	0.561000	0.74099	CGT		0.567	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
NLRP4	147945	broad.mit.edu	37	19	56388509	56388509	+	Silent	SNP	G	G	A	rs201059514		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:56388509G>A	ENST00000301295.6	+	8	3095	c.2673G>A	c.(2671-2673)acG>acA	p.T891T	NLRP4_ENST00000587891.1_Silent_p.T816T|NLRP4_ENST00000346986.5_Silent_p.T835T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	891					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACGCATACGGATTGCCGCT	0.478																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2671-2673)acG>acA		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.		G		0,4406		0,0,2203	198.0	187.0	191.0		2673	-1.6	0.0	19		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP4	NM_134444.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		891/995	56388509	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56388509G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2673G>A	19.37:g.56388509G>A						NLRP4_uc002qmf.3_Silent_p.T816T|NLRP4_uc010etf.3_Silent_p.T666T	p.T891T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	3095	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	891					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2673G>A	CCDS12936.1																																																																																				0.478	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941692	53941692	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:53941692G>A	ENST00000263634.3	-	7	943	c.809C>T	c.(808-810)aCt>aTt	p.T270I	ASB3_ENST00000406625.2_Missense_Mutation_p.T305I|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.T197I|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.T308I|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.T197I|ASB3_ENST00000498475.2_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		GGCCCGGTTAGTAAGTGGTAT	0.393																																						uc002rxi.4																			0											c.(922-924)aCt>aTt		Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.							108.0	105.0	106.0					2																	53941692		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53941692G>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.809C>T	2.37:g.53941692G>A	ENSP00000263634:p.Thr270Ile					GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.T197I|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.T270I|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.T197I|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.T187I	p.T308I	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN			6	1028	-			305						Missense_Mutation	SNP	ENST00000263634.3	37	c.923C>T	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774799	0.90108	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	6.02	6.02	0.97574	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.77486	2.375	0.39837	D	0.973056	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	1.0;0.987;0.944	T	0.80659	-0.1284	9	0.56958	D	0.05	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	187;305;270	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	I	270;305;197;197;308;187	ENSP00000263634:T270I;ENSP00000385085:T305I;ENSP00000384728:T197I;ENSP00000378206:T197I;ENSP00000313756:T308I	ENSP00000263634:T270I	T	-	2	0	ASB3	53795196	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.940000	0.92958	2.865000	0.98341	0.655000	0.94253	ACT		0.393	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3		
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						uc002ths.2																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	central_nervous_system(1)	1						c.(5278-5280)Cct>Gct		Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	84220				intracellular transport	cytoplasm	binding	g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	p.P1760A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN			22	5470	-			1760					Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	
DPP10	57628	broad.mit.edu	37	2	116593731	116593731	+	Splice_Site	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:116593731A>G	ENST00000410059.1	+	22	2430		c.e22-1		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCCCCCCCAGGGTTATGGT	0.333																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.e22-2		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							40.0	40.0	40.0					2																	116593731		2203	4300	6503	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593731A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1951-1A>G	2.37:g.116593731A>G						DPP10_uc002tla.2_Splice_Site_p.G651_splice|DPP10_uc002tlb.2_Splice_Site_p.G601_splice|DPP10_uc002tlc.2_Splice_Site_p.G647_splice|DPP10_uc002tlf.2_Splice_Site_p.G644_splice	p.G655_splice	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			22	1984	+			651					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	ENST00000410059.1	37	c.1963_splice	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031542	0.35797	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6283	0.68638	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	116310201	1.000000	0.71417	0.918000	0.36340	0.338000	0.28826	7.479000	0.81095	2.036000	0.60181	0.383000	0.25322	.		0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Intron
RBM45	129831	broad.mit.edu	37	2	178990756	178990756	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:178990756T>C	ENST00000286070.5	+	9	1370	c.1278T>C	c.(1276-1278)aaT>aaC	p.N426N		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	428	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAGGAAAAAATGTGGGGTATG	0.383																																						uc002ulv.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1276-1278)aaT>aaC		Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.							163.0	150.0	154.0					2																	178990756		2203	4300	6503	SO:0001819	synonymous_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178990756T>C	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1278T>C	2.37:g.178990756T>C							p.N426N	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1370	+			428			RRM 3.		Q6NYL0|Q8NFC9	Silent	SNP	ENST00000286070.5	37	c.1278T>C	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.350|9.350	1.065183|1.065183	0.20067|0.20067	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000424099|ENST00000455903	.|.	.|.	.|.	5.74|5.74	2.05|2.05	0.26809|0.26809	.|.	.|.	.|.	.|.	.|.	T|T	0.57140|0.57140	0.2033|0.2033	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47812|0.47812	-0.9088|-0.9088	4|4	.|.	.|.	.|.	-25.2319|-25.2319	8.4069|8.4069	0.32621|0.32621	0.0:0.2841:0.0:0.7159|0.0:0.2841:0.0:0.7159	.|.	.|.	.|.	.|.	R|T	25|87	.|.	.|.	C|M	+|+	1|2	0|0	RBM45|RBM45	178699002|178699002	0.915000|0.915000	0.31059|0.31059	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	-0.070000|-0.070000	0.11523|0.11523	0.108000|0.108000	0.17862|0.17862	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.383	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
ZDBF2	57683	broad.mit.edu	37	2	207169709	207169709	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:207169709C>T	ENST00000374423.3	+	5	843	c.457C>T	c.(457-459)Cat>Tat	p.H153Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	153							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAGTTTGTTCATAAAATTGG	0.448																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(457-459)Cat>Tat		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							49.0	46.0	47.0					2																	207169709		1851	4105	5956	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169709C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.457C>T	2.37:g.207169709C>T	ENSP00000363545:p.His153Tyr						p.H153Y	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	707	+			153					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.457C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	4.420	0.077623	0.08485	.	.	ENSG00000204186	ENST00000374423	T	0.17528	2.27	4.94	1.1	0.20463	.	1.568210	0.04236	N	0.336130	T	0.17152	0.0412	L	0.50333	1.59	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.29305	-1.0016	10	0.42905	T	0.14	.	4.4932	0.11824	0.1437:0.5457:0.0:0.3106	.	153	Q9HCK1	ZDBF2_HUMAN	Y	153	ENSP00000363545:H153Y	ENSP00000363545:H153Y	H	+	1	0	ZDBF2	206877954	0.000000	0.05858	0.062000	0.19696	0.485000	0.33311	0.151000	0.16283	-0.079000	0.12707	-0.913000	0.02753	CAT		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
BARD1	580	broad.mit.edu	37	2	215609857	215609857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:215609857delC	ENST00000260947.4	-	9	1971	c.1837delG	c.(1837-1839)gcafs	p.A613fs	BARD1_ENST00000449967.2_Frame_Shift_Del_p.A469fs	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	613	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTGAACTGCATCACCAGGA	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1837-1839)gcafs		Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.							89.0	82.0	84.0					2																	215609857		2203	4300	6503	SO:0001589	frameshift_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215609857delC		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1837delG	2.37:g.215609857delC	ENSP00000260947:p.Ala613fs					BARD1_uc021vwe.1_Frame_Shift_Del_p.A594fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.A516fs|BARD1_uc021vwg.1_Frame_Shift_Del_p.A162fs|BARD1_uc021vwh.1_Frame_Shift_Del_p.A143fs|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Frame_Shift_Del_p.A179fs|BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs	p.A613fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1972	-		Renal(323;0.0243)	613			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Del	DEL	ENST00000260947.4	37	c.1837delG	CCDS2397.1																																																																																				0.338	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465	
STK35	140901	broad.mit.edu	37	20	2097899	2097899	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:2097899C>T	ENST00000381482.3	+	3	1751	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	STK35_ENST00000246032.3_Missense_Mutation_p.R361C|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCCCAAAAACGCAGGACTTC	0.512																																						uc002wfw.4																			0				large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(1480-1482)Cgc>Tgc		Homo sapiens serine/threonine kinase 35 (STK35), mRNA.							80.0	77.0	78.0					20																	2097899		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097899C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1480C>T	20.37:g.2097899C>T	ENSP00000370891:p.Arg494Cys					STK35_uc010zpu.2_Intron	p.R494C	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			2	1480	+			494			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1480C>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795580	0.50208	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.93604	-3.25;-3.25	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.284313	0.39274	N	0.001405	D	0.94840	0.8333	L	0.43701	1.375	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.94332	0.7563	10	0.49607	T	0.09	-8.681	16.94	0.86215	0.0:1.0:0.0:0.0	.	494	Q8TDR2	STK35_HUMAN	C	494;361	ENSP00000370891:R494C;ENSP00000246032:R361C	ENSP00000246032:R361C	R	+	1	0	STK35	2045899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.808000	0.55598	2.861000	0.98227	0.655000	0.94253	CGC		0.512	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836	
TRMT6	51605	broad.mit.edu	37	20	5925484	5925485	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:5925484_5925485delTA	ENST00000203001.2	-	3	462_463	c.332_333delTA	c.(331-333)atafs	p.I111fs	TRMT6_ENST00000453074.2_Intron|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	111					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TCAAAGCTTTTATGTCATCTTG	0.342																																						uc002wmh.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(331-333)atafs		Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.																																				SO:0001589	frameshift_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5925484_5925485delTA	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.332_333delTA	20.37:g.5925484_5925485delTA	ENSP00000203001:p.Ile111fs					TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_Non-coding_Transcript	p.I111fs	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			2	454_455	-			111					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Frame_Shift_Del	DEL	ENST00000203001.2	37	c.332_333delTA	CCDS13093.1																																																																																				0.342	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2		
CHD6	84181	broad.mit.edu	37	20	40043955	40043955	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:40043955T>C	ENST00000373233.3	-	34	6987	c.6810A>G	c.(6808-6810)ggA>ggG	p.G2270G	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2270					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGACAATCTGTCCAGTCACAG	0.537																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6808-6810)ggA>ggG		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							84.0	74.0	78.0					20																	40043955		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40043955T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6810A>G	20.37:g.40043955T>C						CHD6_uc002xjz.1_5'Flank	p.G2270G	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			33	6988	-		Myeloproliferative disorder(115;0.00425)	2270					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.6810A>G	CCDS13317.1																																																																																				0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
SYS1	90196	broad.mit.edu	37	20	43995683	43995683	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:43995683C>T	ENST00000243918.5	+	4	690	c.399C>T	c.(397-399)atC>atT	p.I133I	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000372727.1_Silent_p.I133I|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_Silent_p.I112I|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	133					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCTGTCATCGGGGAGTACC	0.577																																						uc021weh.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7						c.(397-399)atC>atT		Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.							121.0	109.0	113.0					20																	43995683		2203	4300	6503	SO:0001819	synonymous_variant	90196				protein transport	Golgi membrane|integral to membrane		g.chr20:43995683C>T	AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.399C>T	20.37:g.43995683C>T						SYS1_uc002xnv.3_Silent_p.I133I|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	p.I133I	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN			4	642	+		Myeloproliferative disorder(115;0.0122)	133					C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Silent	SNP	ENST00000243918.5	37	c.399C>T	CCDS13351.1																																																																																				0.577	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079453.2	NM_033542	
TSHZ2	128553	broad.mit.edu	37	20	51870964	51870964	+	Missense_Mutation	SNP	C	C	T	rs368152415		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:51870964C>T	ENST00000371497.5	+	2	1854	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R320C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R320C|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	323					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCTAAGAAACGCGTTTTTGA	0.453																																						uc002xwo.3																			0		p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(967-969)Cgc>Tgc		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77.0	84.0	81.0		958,967	5.8	0.8	20		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	320/1032,323/1035	51870964	1,13005	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870964C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.967C>T	20.37:g.51870964C>T	ENSP00000360552:p.Arg323Cys					TSHZ2_uc021wex.1_Missense_Mutation_p.R320C	p.R323C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1854	+			323					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.967C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007903	0.75046	0.0	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.17528	2.28;2.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.17745	-1.0359	10	0.87932	D	0	-3.6975	20.0431	0.97598	0.0:1.0:0.0:0.0	.	323	Q9NRE2	TSH2_HUMAN	C	323;320	ENSP00000360552:R323C;ENSP00000333114:R320C	ENSP00000333114:R320C	R	+	1	0	TSHZ2	51304371	1.000000	0.71417	0.768000	0.31515	0.571000	0.35966	5.662000	0.68032	2.732000	0.93576	0.643000	0.83706	CGC		0.453	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
SLC5A3	6526	broad.mit.edu	37	21	35468403	35468404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr21:35468403_35468404insG	ENST00000381151.3	+	2	1418_1419	c.906_907insG	c.(907-909)ggcfs	p.G303fs	SLC5A3_ENST00000608209.1_Frame_Shift_Ins_p.G303fs|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	303					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTTATGGCTGGCTTCTTAAA	0.47																																						uc021wir.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(904-909)gctggcfs		Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.																																				SO:0001589	frameshift_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468403_35468404insG		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.908dupG	21.37:g.35468405_35468405dupG	ENSP00000370543:p.Gly303fs					SLC5A3_uc002yto.3_Frame_Shift_Ins_p.A302fs|MRPS6_uc002ytp.2_Intron	p.A302fs	NM_006933	NP_008864	P53794	SC5A3_HUMAN			0	906_907	+			302					O43489	Frame_Shift_Ins	INS	ENST00000381151.3	37	c.906_907insG	CCDS33549.1																																																																																				0.470	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1		
CSF2RB	1439	broad.mit.edu	37	22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A	rs576486802	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:37326752G>A	ENST00000403662.3	+	8	1114	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_ENST00000262825.5_Missense_Mutation_p.G304S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G245S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G304S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	298					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													G|||	4	0.000798722	0.0	0.0	5008	,	,		16639	0.0		0.0	False		,,,				2504	0.0041					uc003aqa.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(892-894)Ggc>Agc		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						46.0	41.0	43.0					22																	37326752		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326752G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.892G>A	22.37:g.37326752G>A	ENSP00000384053:p.Gly298Ser					CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	p.G298S	NM_000395	NP_000386	P32927	IL3RB_HUMAN			7	1109	+			298					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.892G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142053	0.09083	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	D;D;D;T;D	0.83914	-1.78;-1.78;-1.78;0.06;-1.78	5.36	-10.7	0.00240	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.633610	0.03994	N	0.295401	T	0.60274	0.2256	N	0.08118	0	0.09310	N	1	B;B	0.26845	0.161;0.076	B;B	0.19148	0.02;0.024	T	0.56535	-0.7963	10	0.22706	T	0.39	0.4652	8.06	0.30627	0.1926:0.325:0.4228:0.0596	.	304;298	P32927-2;P32927	.;IL3RB_HUMAN	S	298;298;304;304;218;245	ENSP00000384053:G298S;ENSP00000262825:G304S;ENSP00000385271:G304S;ENSP00000393585:G218S;ENSP00000440003:G245S	ENSP00000262825:G304S	G	+	1	0	CSF2RB	35656698	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.730000	0.00381	-5.588000	0.00012	-1.697000	0.00723	GGC		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
ENTHD1	150350	broad.mit.edu	37	22	40283548	40283548	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:40283548G>A	ENST00000325157.6	-	2	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	69	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.R69C(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TACACGTGGCGCCAGTTCTTC	0.403																																						uc003ayg.3																			1	Substitution - Missense(1)	p.R69C(2)	lung(1)	breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(205-207)Cgc>Tgc		Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.							171.0	170.0	170.0					22																	40283548		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283548G>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.205C>T	22.37:g.40283548G>A	ENSP00000317431:p.Arg69Cys						p.R69C	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			1	456	-	Melanoma(58;0.0749)		69			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.205C>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620476	0.66787	.	.	ENSG00000176177	ENST00000325157	T	0.54866	0.55	5.42	4.41	0.53225	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.076064	0.56097	D	0.000035	T	0.81138	0.4760	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84210	0.0455	10	0.87932	D	0	-9.1805	7.7359	0.28815	0.0821:0.0:0.6516:0.2662	.	69	Q8IYW4	ENTD1_HUMAN	C	69	ENSP00000317431:R69C	ENSP00000317431:R69C	R	-	1	0	ENTHD1	38613494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.025000	0.41059	1.416000	0.47057	0.655000	0.94253	CGC		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
CYP2D6	1565	broad.mit.edu	37	22	42524294	42524294	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:42524294C>T	ENST00000360608.5	-	5	839	c.725G>A	c.(724-726)cGc>cAc	p.R242H	CYP2D6_ENST00000389970.3_Missense_Mutation_p.R242H|CYP2D6_ENST00000359033.4_Missense_Mutation_p.R191H|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	242					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTTTTGGAAGCGTAGGACCTT	0.607																																						uc003bce.3																			0		p.D241N(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(724-726)cGc>cAc		Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.							53.0	48.0	50.0					22																	42524294		2199	4300	6499	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524294C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.725G>A	22.37:g.42524294C>T	ENSP00000353820:p.Arg242His					LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Missense_Mutation_p.R191H	p.R242H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			4	815	-			242					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.725G>A	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.402885	0.25291	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.68479	-0.33;-0.33;-0.33	4.55	0.799	0.18667	.	0.934257	0.09069	N	0.853110	T	0.57066	0.2028	L	0.42487	1.325	0.09310	N	1	B;B	0.21688	0.059;0.034	B;B	0.16289	0.015;0.015	T	0.49818	-0.8899	10	0.48119	T	0.1	.	9.9636	0.41710	0.0:0.5478:0.317:0.1352	.	191;242	Q6NXU8;Q6NWU0	.;.	H	242;242;188;191;191	ENSP00000353820:R242H;ENSP00000374620:R242H;ENSP00000351927:R191H	ENSP00000351927:R191H	R	-	2	0	CYP2D6	40854238	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.294000	0.19047	0.421000	0.25980	-0.494000	0.04653	CGC		0.607	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
XIRP1	165904	broad.mit.edu	37	3	39225931	39225931	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:39225931G>T	ENST00000340369.3	-	2	5234	c.5006C>A	c.(5005-5007)tCc>tAc	p.S1669Y	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.S352Y	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1669					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAATGTTGGGGAGGAGGGAGA	0.537																																						uc003cjk.2																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5005-5007)tCc>tAc		Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.							83.0	88.0	86.0					3																	39225931		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225931G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5006C>A	3.37:g.39225931G>T	ENSP00000343140:p.Ser1669Tyr					XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S352Y|XIRP1_uc021wvz.1_Missense_Mutation_p.S1669Y	p.S1669Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	5235	-			1669					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5006C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305791	0.81247	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.49432	2.8;0.78	4.75	4.75	0.60458	.	0.139272	0.49916	U	0.000132	T	0.67730	0.2924	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.71971	-0.4431	10	0.87932	D	0	.	15.6025	0.76636	0.0:0.0:1.0:0.0	.	1669	Q702N8	XIRP1_HUMAN	Y	1669;352	ENSP00000343140:S1669Y;ENSP00000391645:S352Y	ENSP00000343140:S1669Y	S	-	2	0	XIRP1	39200935	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.950000	0.49081	2.379000	0.81126	0.655000	0.94253	TCC		0.537	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
KALRN	8997	broad.mit.edu	37	3	124053259	124053259	+	Missense_Mutation	SNP	C	C	T	rs147539685		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:124053259C>T	ENST00000240874.3	+	9	1715	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	KALRN_ENST00000460856.1_Missense_Mutation_p.R520W|KALRN_ENST00000360013.3_Missense_Mutation_p.R520W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	520					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCACCAGCGACGGCTGGAGAG	0.622																																						uc003ehg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1558-1560)Cgg>Tgg		Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.							58.0	60.0	59.0					3																	124053259		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053259C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1558C>T	3.37:g.124053259C>T	ENSP00000240874:p.Arg520Trp					KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W	p.R520W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			8	1685	+			520					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1558C>T	CCDS3027.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.8	4.046683	0.75846	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.42513	0.97;0.97;0.97	4.97	4.03	0.46877	.	0.066271	0.64402	D	0.000011	T	0.47002	0.1422	N	0.22421	0.69	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;P;P	0.61275	0.772;0.548;0.886	T	0.51220	-0.8733	10	0.72032	D	0.01	.	15.4338	0.75125	0.1391:0.8609:0.0:0.0	.	520;520;520	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	W	520	ENSP00000418611:R520W;ENSP00000240874:R520W;ENSP00000353109:R520W	ENSP00000240874:R520W	R	+	1	2	KALRN	125535949	0.998000	0.40836	1.000000	0.80357	0.387000	0.30353	2.884000	0.48562	2.735000	0.93741	0.655000	0.94253	CGG		0.622	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
MSL2	55167	broad.mit.edu	37	3	135870091	135870091	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:135870091A>T	ENST00000309993.2	-	2	2364	c.1632T>A	c.(1630-1632)agT>agA	p.S544R	MSL2_ENST00000434835.2_Missense_Mutation_p.S470R	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	544					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CATTTATTACACTGGTGCTGG	0.468																																						uc003eqx.1																			0		p.S544I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1630-1632)agT>agA		Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.							117.0	114.0	115.0					3																	135870091		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870091A>T	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1632T>A	3.37:g.135870091A>T	ENSP00000311827:p.Ser544Arg					MSL2_uc011bmb.1_Missense_Mutation_p.S470R|MSL2_uc021xel.1_Missense_Mutation_p.S470R	p.S544R	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN			1	2365	-			544					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1632T>A	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749992	0.30955	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.73	3.38	0.38709	.	0.229211	0.49916	D	0.000123	T	0.40570	0.1122	L	0.36672	1.1	0.45704	D	0.998614	P	0.41910	0.764	B	0.39094	0.29	T	0.33163	-0.9879	9	0.59425	D	0.04	-6.6316	9.1276	0.36826	0.8525:0.0:0.1475:0.0	.	544	Q9HCI7	MSL2_HUMAN	R	544;470	.	ENSP00000311827:S544R	S	-	3	2	MSL2	137352781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.163000	0.42377	0.994000	0.38892	0.383000	0.25322	AGT		0.468	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	
AASDH	132949	broad.mit.edu	37	4	57220268	57220269	+	Frame_Shift_Ins	INS	-	-	A	rs148777026		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:57220268_57220269insA	ENST00000205214.6	-	8	1499_1500	c.1319_1320insT	c.(1318-1320)ttgfs	p.L440fs	AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000602986.1_Frame_Shift_Ins_p.L287fs|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Frame_Shift_Ins_p.L340fs|AASDH_ENST00000451613.1_Frame_Shift_Ins_p.L440fs|AASDH_ENST00000502617.1_Frame_Shift_Ins_p.L440fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	440					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTTTTCGTCCCAAAAAAAAAAT	0.361																																						uc003hbn.3																			1	Unknown(1)	p.?(1)	skin(1)	endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1318-1320)ttgfs		Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.																																				SO:0001589	frameshift_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57220268_57220269insA	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1320dupT	4.37:g.57220278_57220278dupA	ENSP00000205214:p.Leu440fs					AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Frame_Shift_Ins_p.L340fs|AASDH_uc011caa.2_Frame_Shift_Ins_p.L287fs|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Frame_Shift_Ins_p.L440fs|AASDH_uc003hbp.3_Frame_Shift_Ins_p.L440fs	p.L440fs	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			7	1472_1473	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	440					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Ins	INS	ENST00000205214.6	37	c.1319_1320insT	CCDS3504.1																																																																																				0.361	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
AFM	173	broad.mit.edu	37	4	74361147	74361147	+	Missense_Mutation	SNP	G	G	A	rs372542885		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:74361147G>A	ENST00000226355.3	+	9	1282	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	397	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTACCGTTACGCGGTAGGTTC	0.378																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1189-1191)Gcg>Acg		Homo sapiens afamin (AFM), mRNA.		G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	61.0	67.0	65.0		1189	3.2	0.1	4		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	AFM	NM_001133.2	58	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	397/600	74361147	2,13002	2202	4300	6502	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74361147G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1189G>A	4.37:g.74361147G>A	ENSP00000226355:p.Ala397Thr						p.A397T	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1220	+	Breast(15;0.00102)		397			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1189G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482153	0.26598	2.27E-4	1.16E-4	ENSG00000079557	ENST00000226355	T	0.74002	-0.8	4.01	3.16	0.36331	Serum albumin, conserved site (1);Serum albumin-like (1);Serum albumin, N-terminal (2);	0.504196	0.20120	N	0.098822	T	0.63861	0.2547	M	0.65975	2.015	0.09310	N	1	P	0.48640	0.913	B	0.34038	0.174	T	0.59252	-0.7489	10	0.42905	T	0.14	.	7.7171	0.28710	0.1172:0.0:0.8828:0.0	.	397	P43652	AFAM_HUMAN	T	397	ENSP00000226355:A397T	ENSP00000226355:A397T	A	+	1	0	AFM	74580011	0.006000	0.16342	0.078000	0.20375	0.061000	0.15899	1.584000	0.36589	1.036000	0.39998	0.650000	0.86243	GCG		0.378	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
GRID2	2895	broad.mit.edu	37	4	94316790	94316790	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:94316790T>G	ENST00000282020.4	+	9	1536	c.1278T>G	c.(1276-1278)aaT>aaG	p.N426K	GRID2_ENST00000510992.1_Missense_Mutation_p.N331K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	426					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CAGGTCTGAATGGGTCACTGA	0.433																																						uc011cdt.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1276-1278)aaT>aaG		Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	L-Glutamic Acid(DB00142)						206.0	197.0	200.0					4																	94316790		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94316790T>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1278T>G	4.37:g.94316790T>G	ENSP00000282020:p.Asn426Lys					GRID2_uc011cdu.2_Missense_Mutation_p.N331K	p.N426K	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	8	1536	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	426					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1278T>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729170	0.69074	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.87412	-2.25;-2.25	6.02	-0.664	0.11406	.	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	D	0.84641	0.0695	10	0.87932	D	0	.	10.5725	0.45209	0.0:0.3096:0.0:0.6904	.	331;426	E9PH24;O43424	.;GRID2_HUMAN	K	426;331	ENSP00000282020:N426K;ENSP00000421257:N331K	ENSP00000282020:N426K	N	+	3	2	GRID2	94535813	0.998000	0.40836	0.996000	0.52242	0.986000	0.74619	0.338000	0.19858	-0.048000	0.13401	-0.263000	0.10527	AAT		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
ADAM29	11086	broad.mit.edu	37	4	175898213	175898213	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:175898213G>A	ENST00000359240.3	+	5	2207	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	ADAM29_ENST00000514159.1_Missense_Mutation_p.A513T|ADAM29_ENST00000445694.1_Missense_Mutation_p.A513T|ADAM29_ENST00000404450.4_Missense_Mutation_p.A513T|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	513	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A513T(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGTGCAGGCGCAAATACTGC	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			2	Substitution - Missense(2)	p.A513T(4)	kidney(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1537-1539)Gca>Aca		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							82.0	85.0	84.0					4																	175898213		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898213G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1537G>A	4.37:g.175898213G>A	ENSP00000352177:p.Ala513Thr					ADAM29_uc003iud.3_Missense_Mutation_p.A513T|ADAM29_uc010irr.3_Missense_Mutation_p.A513T|ADAM29_uc011cki.2_Missense_Mutation_p.A513T|ADAM29_uc021xuo.1_Missense_Mutation_p.A513T	p.A513T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	2207	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	513			Cys-rich.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1537G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761533	0.49468	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	3.48	0.426	0.16479	ADAM, cysteine-rich (2);	0.000000	0.35838	U	0.002959	T	0.52741	0.1753	M	0.90019	3.08	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.47355	-0.9124	9	.	.	.	.	10.1692	0.42900	0.0:0.0:0.4883:0.5117	.	513	Q9UKF5	ADA29_HUMAN	T	513	ENSP00000352177:A513T;ENSP00000414544:A513T;ENSP00000384229:A513T;ENSP00000423517:A513T	.	A	+	1	0	ADAM29	176134788	0.384000	0.25164	0.001000	0.08648	0.002000	0.02628	1.725000	0.38074	0.045000	0.15804	0.643000	0.83706	GCA		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
TRIML1	339976	broad.mit.edu	37	4	189060967	189060967	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:189060967G>A	ENST00000332517.3	+	1	395	c.255G>A	c.(253-255)gtG>gtA	p.V85V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	85					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGTCCCAGGTGCTGCAGAGCG	0.652																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(253-255)gtG>gtA		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							46.0	46.0	46.0					4																	189060967		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060967G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.255G>A	4.37:g.189060967G>A							p.V85V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	0	370	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	85					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.255G>A	CCDS3851.1																																																																																				0.652	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
PCDHGB4	8641	broad.mit.edu	37	5	140769313	140769313	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:140769313C>T	ENST00000519479.1	+	1	1862	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCGCACGGGCGAAGTG	0.692																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1861-1863)aCg>aTg		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							31.0	37.0	35.0					5																	140769313		2128	4251	6379	SO:0001583	missense	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769313C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1862C>T	5.37:g.140769313C>T	ENSP00000428288:p.Thr621Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.T621M	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1862	+			625			Cadherin 6.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1862C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432093	0.62844	.	.	ENSG00000253953	ENST00000519479	T	0.58060	0.36	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82462	0.5042	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88814	0.3294	9	0.87932	D	0	.	15.1252	0.72478	0.0:0.8581:0.1419:0.0	.	621;621	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	M	621	ENSP00000428288:T621M	ENSP00000428288:T621M	T	+	2	0	PCDHGB4	140749497	0.009000	0.17119	0.996000	0.52242	0.830000	0.47004	0.288000	0.18939	2.503000	0.84419	0.563000	0.77884	ACG		0.692	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
ATP10B	23120	broad.mit.edu	37	5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T	rs376023056		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:160061402C>T	ENST00000327245.5	-	12	2186	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	447					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507																																						uc003lym.1																			0		p.R447C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1339-1341)cGt>cAt		Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.		C	HIS/ARG	1,3919		0,1,1959	129.0	130.0	130.0		1340	5.5	0.1	5		130	0,8290		0,0,4145	no	missense	ATP10B	NM_025153.2	29	0,1,6104	TT,TC,CC		0.0,0.0255,0.0082	probably-damaging	447/1462	160061402	1,12209	1960	4145	6105	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061402C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1340G>A	5.37:g.160061402C>T	ENSP00000313600:p.Arg447His					ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.3_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	p.R447H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2187	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	447					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1340G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182278	0.94885	2.55E-4	0.0	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.64803	-0.12;-0.12	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.983;0.998;0.978;0.999	T	0.81400	-0.0950	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	491;447;419;55;447	B4DHG1;O94823-2;O94823-3;Q2YDW8;O94823	.;.;.;.;AT10B_HUMAN	H	447;55	ENSP00000313600:R447H;ENSP00000431081:R55H	.	R	-	2	0	ATP10B	159993980	1.000000	0.71417	0.087000	0.20705	0.910000	0.53928	7.726000	0.84824	2.605000	0.88082	0.655000	0.94253	CGT		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
PTCHD4	442213	broad.mit.edu	37	6	47976383	47976383	+	Silent	SNP	C	C	T	rs181953299	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:47976383C>T	ENST00000339488.4	-	2	927	c.894G>A	c.(892-894)ccG>ccA	p.P298P	PTCHD4_ENST00000543600.1_Silent_p.P281P	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	298	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGGCGAAGAACGGGATTCCCA	0.488																																						uc011dwm.2																			0											c.(892-894)ccG>ccA		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							47.0	45.0	46.0					6																	47976383		1949	4142	6091	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976383C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.894G>A	6.37:g.47976383C>T						PTCHD4_uc011dwn.2_Silent_p.P45P|PTCHD4_uc003ozf.2_Silent_p.P298P	p.P298P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			1	928	-			298			SSD.		B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.894G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757169	0.15846	.	.	ENSG00000244694	ENST00000398738	.	.	.	6.1	-6.26	0.02033	.	.	.	.	.	T	0.17109	0.0411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44757	-0.9307	4	.	.	.	.	0.1958	0.00139	0.2383:0.2007:0.2286:0.3324	.	.	.	.	I	298	.	.	V	-	1	0	C6orf138	48084342	0.042000	0.20092	0.943000	0.38184	0.999000	0.98932	-0.698000	0.05092	-0.778000	0.04566	0.650000	0.86243	GTT		0.488	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
DEFB114	245928	broad.mit.edu	37	6	49928111	49928111	+	Missense_Mutation	SNP	C	C	T	rs146020038	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:49928111C>T	ENST00000322066.3	-	2	103	c.104G>A	c.(103-105)cGt>cAt	p.R35H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	35					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TCTTTTACAACGACCGTAACG	0.353																																						uc011dwp.2																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(103-105)cGt>cAt		Homo sapiens defensin, beta 114 (DEFB114), mRNA.							112.0	101.0	105.0					6																	49928111		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928111C>T	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.104G>A	6.37:g.49928111C>T	ENSP00000312702:p.Arg35His						p.R35H	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			1	104	-	Lung NSC(77;0.042)		35					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.104G>A	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	1.017	-0.686213	0.03328	.	.	ENSG00000177684	ENST00000322066	T	0.11277	2.79	3.55	-7.1	0.01547	.	5.758920	0.00166	N	0.000012	T	0.01287	0.0042	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23726	-1.0180	8	.	.	.	3.5808	5.7254	0.18010	0.4266:0.1681:0.0:0.4053	.	35	Q30KQ6	DB114_HUMAN	H	35	ENSP00000312702:R35H	.	R	-	2	0	DEFB114	50036070	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.669000	0.00398	-4.332000	0.00056	-1.175000	0.01729	CGT		0.353	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499	
CD109	135228	broad.mit.edu	37	6	74475666	74475666	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:74475666G>A	ENST00000287097.5	+	11	1233	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	CD109_ENST00000437994.2_Missense_Mutation_p.R374H|CD109_ENST00000422508.2_Missense_Mutation_p.R297H			Q6YHK3	CD109_HUMAN	CD109 molecule	374					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGGTAACTCGTGCTGATGGC	0.358																																						uc003php.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1120-1122)cGt>cAt		Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.							81.0	78.0	79.0					6																	74475666		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74475666G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1121G>A	6.37:g.74475666G>A	ENSP00000287097:p.Arg374His					CD109_uc003phq.3_Missense_Mutation_p.R374H|CD109_uc010kba.3_Missense_Mutation_p.R297H	p.R374H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			10	1552	+			374					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1121G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	9.881	1.201510	0.22121	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23348	1.91;2.12;1.91	4.69	3.82	0.43975	.	0.487586	0.22940	N	0.053790	T	0.06508	0.0167	L	0.29908	0.895	0.09310	N	0.999999	B;B;B;B	0.26147	0.14;0.143;0.057;0.11	B;B;B;B	0.24155	0.034;0.051;0.019;0.022	T	0.29792	-1.0000	10	0.14252	T	0.57	.	12.1492	0.54040	0.0855:0.0:0.9145:0.0	.	297;374;374;374	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	H	374;297;374	ENSP00000388062:R374H;ENSP00000404475:R297H;ENSP00000287097:R374H	ENSP00000287097:R374H	R	+	2	0	CD109	74532387	0.096000	0.21769	0.073000	0.20177	0.606000	0.37113	1.305000	0.33493	1.324000	0.45282	0.462000	0.41574	CGT		0.358	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
TTLL2	83887	broad.mit.edu	37	6	167754816	167754816	+	Silent	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:167754816G>C	ENST00000239587.5	+	3	1516	c.1428G>C	c.(1426-1428)gtG>gtC	p.V476V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	476					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAAAGCTGTGAGTGTGCGTC	0.512																																						uc003qvs.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1426-1428)gtG>gtC		Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.							125.0	110.0	115.0					6																	167754816		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754816G>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1428G>C	6.37:g.167754816G>C							p.V476V	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	1516	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	476					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1428G>C	CCDS5301.1																																																																																				0.512	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	
PRKAR1B	5575	broad.mit.edu	37	7	618975	618975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:618975G>A	ENST00000406797.1	-	9	983	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A270V|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A270V|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A270V|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A270V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	270				A -> R (in Ref. 1; AAC37564). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGCTCCAGCGCATCCGCCAC	0.612																																						uc003siu.2																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(808-810)gCg>gTg		Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.							115.0	90.0	99.0					7																	618975		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:618975G>A	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.809C>T	7.37:g.618975G>A	ENSP00000385749:p.Ala270Val					PRKAR1B_uc021zyi.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siv.3_Missense_Mutation_p.A270V|PRKAR1B_uc021zyj.1_Missense_Mutation_p.A270V|PRKAR1B_uc021zyk.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.2_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_Non-coding_Transcript	p.A270V	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	8	942	-		Ovarian(82;0.0779)	270	A -> R (in Ref. 1; AAC37564).				Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.809C>T	CCDS34579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.608619|4.608619	0.87258|0.87258	.|.	.|.	ENSG00000188191|ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040|ENST00000400758	T;T;T;T;T;T|.	0.72051|.	-0.62;-0.62;-0.62;-0.62;-0.62;1.53|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.73721|0.73721	0.3623|0.3623	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	B|.	0.41917|.	0.37|.	T|T	0.73020|0.73020	-0.4114|-0.4114	10|5	0.54805|.	T|.	0.06|.	1.4|1.4	17.406|17.406	0.87473|0.87473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	270|.	P31321|.	KAP1_HUMAN|.	V|C	270;270;270;270;270;35;270|131	ENSP00000440449:A270V;ENSP00000444487:A270V;ENSP00000385749:A270V;ENSP00000385349:A270V;ENSP00000353415:A270V;ENSP00000402648:A270V|.	ENSP00000340984:A35V|.	A|R	-|-	2|1	0|0	PRKAR1B|PRKAR1B	585501|585501	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.774000|0.774000	0.43823|0.43823	8.675000|8.675000	0.91195|0.91195	2.390000|2.390000	0.81377|0.81377	0.543000|0.543000	0.68304|0.68304	GCG|CGC		0.612	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1		
NUPL2	11097	broad.mit.edu	37	7	23239787	23239787	+	Splice_Site	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23239787G>A	ENST00000258742.5	+	7	954	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	232					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ttgttTGTAGGCTTTCCAGTC	0.353																																						uc003svu.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e7-1		Homo sapiens nucleoporin like 2 (NUPL2), mRNA.							39.0	38.0	39.0					7																	23239787		2201	4299	6500	SO:0001630	splice_region_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23239787G>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.695-1G>A	7.37:g.23239787G>A						NUPL2_uc003svv.3_Splice_Site|NUPL2_uc011jyw.2_Splice_Site|NUPL2_uc011jyx.2_Splice_Site_p.G4_splice	p.G232_splice	NM_007342	NP_031368	O15504	NUPL2_HUMAN			7	954	+			232					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.695_splice	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037690	0.54896	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.39997	1.08;1.05	5.75	5.75	0.90469	.	0.294727	0.42172	D	0.000751	T	0.59362	0.2188	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.54098	-0.8344	9	.	.	.	.	16.2016	0.82087	0.0:0.1331:0.8669:0.0	.	232	O15504	NUPL2_HUMAN	D	232;257	ENSP00000258742:G232D;ENSP00000401475:G257D	.	G	+	2	0	NUPL2	23206312	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	2.310000	0.43708	2.878000	0.98634	0.650000	0.86243	GGC		0.353	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342	Missense_Mutation
STK31	56164	broad.mit.edu	37	7	23825130	23825130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23825130C>T	ENST00000355870.3	+	18	2301	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonsense_Mutation_p.R728*|STK31_ENST00000428484.1_Nonsense_Mutation_p.R705*|STK31_ENST00000354639.3_Nonsense_Mutation_p.R705*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	728	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.R728*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGCTTGGAACGAGATCTTCT	0.403																																						uc003sws.4																			1	Substitution - Nonsense(1)	p.R728*(2)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2182-2184)Cga>Tga		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							199.0	189.0	193.0					7																	23825130		2203	4300	6503	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23825130C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2182C>T	7.37:g.23825130C>T	ENSP00000348132:p.Arg728*					STK31_uc003swt.4_Nonsense_Mutation_p.R705*|STK31_uc011jze.2_Nonsense_Mutation_p.R728*|STK31_uc010kuq.3_Nonsense_Mutation_p.R705*|STK31_uc003swv.1_5'Flank	p.R728*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			17	2249	+			728			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.2182C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	43	9.903888	0.99292	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.24	4.35	0.52113	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.124	12.7285	0.57185	0.3181:0.6819:0.0:0.0	.	.	.	.	X	728;728;705;705	.	ENSP00000346660:R705X	R	+	1	2	STK31	23791655	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	1.676000	0.37565	1.287000	0.44583	0.650000	0.86243	CGA		0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
WNT2	7472	broad.mit.edu	37	7	116960726	116960726	+	Missense_Mutation	SNP	C	C	T	rs371599061		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:116960726C>T	ENST00000265441.3	-	2	504	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	69					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCGGCCACGCCCTGGCTA	0.602																																						uc003viz.3																			0		p.G68D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(205-207)Gtg>Atg		Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.		C	MET/VAL	0,4406		0,0,2203	74.0	58.0	63.0		205	4.5	1.0	7		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	69/361	116960726	1,13005	2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960726C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.205G>A	7.37:g.116960726C>T	ENSP00000265441:p.Val69Met					WNT2_uc003vja.3_5'UTR	p.V69M	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	1	505	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		69					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.205G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934831	0.52866	0.0	1.16E-4	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76578	-1.03;-1.03	5.42	4.53	0.55603	.	0.221138	0.45606	D	0.000346	T	0.69655	0.3135	L	0.41492	1.28	0.40066	D	0.975954	B	0.27823	0.19	B	0.26094	0.066	T	0.71699	-0.4514	10	0.66056	D	0.02	.	13.0278	0.58825	0.0:0.9226:0.0:0.0774	.	69	P09544	WNT2_HUMAN	M	69	ENSP00000265441:V69M;ENSP00000419466:V69M	ENSP00000265441:V69M	V	-	1	0	WNT2	116747962	0.008000	0.16893	0.957000	0.39632	0.125000	0.20455	2.284000	0.43478	2.691000	0.91804	0.655000	0.94253	GTG		0.602	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
MGAM	8972	broad.mit.edu	37	7	141759386	141759386	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:141759386G>A	ENST00000549489.2	+	32	4029	c.3934G>A	c.(3934-3936)Gtc>Atc	p.V1312I	MGAM_ENST00000475668.2_Missense_Mutation_p.V1312I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1312	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGATGCGGGTCATCCTCAT	0.507																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3934-3936)Gtc>Atc		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						66.0	63.0	64.0					7																	141759386		2043	4195	6238	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759386G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3934G>A	7.37:g.141759386G>A	ENSP00000447378:p.Val1312Ile						p.V1312I	NM_004668	NP_004659	O43451	MGA_HUMAN			31	3988	+	Melanoma(164;0.0272)		1312			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3934G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.297508	0.40694	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.94497	-3.44	4.21	2.32	0.28847	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.90438	0.7006	L	0.39326	1.205	0.26735	N	0.970511	B	0.21071	0.051	B	0.28232	0.087	T	0.82983	-0.0186	9	0.72032	D	0.01	.	5.5769	0.17228	0.0987:0.0:0.4215:0.4798	.	1312	O43451	MGA_HUMAN	I	1312;1312;1189	ENSP00000447378:V1312I	ENSP00000316431:V1189I	V	+	1	0	MGAM	141405855	0.997000	0.39634	0.999000	0.59377	0.828000	0.46876	2.400000	0.44504	0.222000	0.20900	0.194000	0.17425	GTC		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
STC1	6781	broad.mit.edu	37	8	23709003	23709003	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:23709003G>A	ENST00000290271.2	-	3	586	c.303C>T	c.(301-303)aaC>aaT	p.N101N	STC1_ENST00000524323.1_Silent_p.N32N	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	101					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGTGACCCCGTTGGCGATGC	0.517																																						uc003xdw.1																			0		p.A100V(1)|p.A100T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(301-303)aaC>aaT		Homo sapiens stanniocalcin 1 (STC1), mRNA.							132.0	115.0	121.0					8																	23709003		2203	4300	6503	SO:0001819	synonymous_variant	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23709003G>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.303C>T	8.37:g.23709003G>A							p.N101N	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	2	587	-		Prostate(55;0.055)|Breast(100;0.116)	101					B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	37	c.303C>T	CCDS6043.1																																																																																				0.517	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1		
UNC5D	137970	broad.mit.edu	37	8	35407016	35407016	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:35407016G>C	ENST00000404895.2	+	2	638	c.310G>C	c.(310-312)Gac>Cac	p.D104H	UNC5D_ENST00000420357.1_Missense_Mutation_p.D104H|UNC5D_ENST00000453357.2_Missense_Mutation_p.D99H|UNC5D_ENST00000287272.2_Missense_Mutation_p.D104H|UNC5D_ENST00000416672.1_Missense_Mutation_p.D104H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	104	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGAGACTCTGGACGAGAGCTC	0.522																																						uc003xjr.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(310-312)Gac>Cac		Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.							41.0	36.0	37.0					8																	35407016		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35407016G>C	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.310G>C	8.37:g.35407016G>C	ENSP00000385143:p.Asp104His					UNC5D_uc003xjs.2_Missense_Mutation_p.D99H	p.D104H	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	1	638	+			104			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.310G>C	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523498	0.85600	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	6.07	6.07	0.98685	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.927	T	0.68934	-0.5278	10	0.87932	D	0	-25.9862	20.6593	0.99626	0.0:0.0:1.0:0.0	.	99;104	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	H	104;104;104;104;99	ENSP00000385143:D104H;ENSP00000392739:D104H;ENSP00000287272:D104H;ENSP00000412652:D104H;ENSP00000394303:D99H	ENSP00000287272:D104H	D	+	1	0	UNC5D	35526558	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	9.490000	0.97952	2.885000	0.99019	0.655000	0.94253	GAC		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
PTDSS1	9791	broad.mit.edu	37	8	97285591	97285591	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:97285591A>G	ENST00000517309.1	+	2	570	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PTDSS1_ENST00000455950.2_5'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	82					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTCTTTCTTATCATCAGTGT	0.373																																						uc003yht.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(244-246)Atc>Gtc		Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	Phosphatidylserine(DB00144)						180.0	170.0	173.0					8																	97285591		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97285591A>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.244A>G	8.37:g.97285591A>G	ENSP00000430548:p.Ile82Val					PTDSS1_uc003yhu.1_5'UTR	p.I82V	NM_014754	NP_055569	P48651	PTSS1_HUMAN			1	346	+	Breast(36;6.18e-05)		82					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.244A>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671978	0.29693	.	.	ENSG00000156471	ENST00000517309	T	0.39229	1.09	5.54	5.54	0.83059	.	0.104613	0.64402	D	0.000003	T	0.21550	0.0519	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11916	-1.0568	10	0.18276	T	0.48	-33.5173	13.3018	0.60330	1.0:0.0:0.0:0.0	.	82	P48651	PTSS1_HUMAN	V	82	ENSP00000430548:I82V	ENSP00000337331:I82V	I	+	1	0	PTDSS1	97354767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.125000	0.64715	2.326000	0.78906	0.533000	0.62120	ATC		0.373	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
TEK	7010	broad.mit.edu	37	9	27217701	27217701	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:27217701C>T	ENST00000380036.4	+	19	3449	c.3007C>T	c.(3007-3009)Cgc>Tgc	p.R1003C	TEK_ENST00000519097.1_Missense_Mutation_p.R855C|TEK_ENST00000406359.4_Missense_Mutation_p.R960C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1003	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GCTCCCAGTGCGCTGGATGGC	0.483																																						uc011lno.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2878-2880)Cgc>Tgc		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							111.0	106.0	108.0					9																	27217701		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27217701C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3007C>T	9.37:g.27217701C>T	ENSP00000369375:p.Arg1003Cys					TEK_uc003zqi.4_Missense_Mutation_p.R1003C|TEK_uc011lnp.2_Missense_Mutation_p.R855C	p.R960C	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	17	3320	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1003			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2878C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043329	0.75732	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83755	-1.76;-1.76;-1.76	4.27	4.27	0.50696	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000766	D	0.90621	0.7059	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91814	0.5462	10	0.87932	D	0	.	13.8466	0.63470	0.153:0.847:0.0:0.0	.	855;1036;1003	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	C	855;1003;960	ENSP00000430686:R855C;ENSP00000369375:R1003C;ENSP00000383977:R960C	ENSP00000369375:R1003C	R	+	1	0	TEK	27207701	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.619000	0.61218	2.357000	0.79964	0.591000	0.81541	CGC		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
ZNF618	114991	broad.mit.edu	37	9	116811355	116811355	+	Silent	SNP	C	C	T	rs376102134		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:116811355C>T	ENST00000374126.5	+	15	1872	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	ZNF618_ENST00000288466.7_Silent_p.S498S|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCGCGACAGCGGTGACCTTG	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24289	0.0		0.0	False		,,,				2504	0.0					uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1771-1773)agC>agT		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.		C		1,4383	2.1+/-5.4	0,1,2191	72.0	72.0	72.0		1494	-1.8	1.0	9		72	0,8562		0,0,4281	no	coding-synonymous	ZNF618	NM_133374.2		0,1,6472	TT,TC,CC		0.0,0.0228,0.0077		498/862	116811355	1,12945	2192	4281	6473	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811355C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1773C>T	9.37:g.116811355C>T						ZNF618_uc004bic.3_Silent_p.S498S|ZNF618_uc011lxi.2_Silent_p.S558S|ZNF618_uc011lxj.2_Silent_p.S559S|ZNF618_uc010mvb.3_Silent_p.S181S	p.S591S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			14	1872	+			591					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.1773C>T																																																																																					0.592	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
RABGAP1	23637	broad.mit.edu	37	9	125748579	125748579	+	Silent	SNP	G	G	T	rs561902288		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:125748579G>T	ENST00000373647.4	+	4	605	c.471G>T	c.(469-471)tcG>tcT	p.S157S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	157	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCTGTGCCTCGGTAAATGCTC	0.453																																						uc011lzh.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(469-471)tcG>tcT		Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.							161.0	147.0	152.0					9																	125748579		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125748579G>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.471G>T	9.37:g.125748579G>T						RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.S157S	p.S157S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			3	605	+			157			PID.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.471G>T	CCDS6848.2																																																																																				0.453	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
CAMSAP1	157922	broad.mit.edu	37	9	138714648	138714648	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:138714648G>A	ENST00000389532.4	-	11	1923	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P342L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P631L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	620					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGCTCCTCGGTCTCCCTTC	0.542																																						uc004cgr.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1858-1860)cCg>cTg		Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.							60.0	66.0	64.0					9																	138714648		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714648G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1859C>T	9.37:g.138714648G>A	ENSP00000374183:p.Pro620Leu					CAMSAP1_uc004cgq.4_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P342L	p.P620L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1859	-			620					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1859C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.227016	0.01518	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.12984	2.63;2.64;2.63	5.3	2.07	0.26955	.	0.341445	0.32041	N	0.006672	T	0.09512	0.0234	L	0.44542	1.39	0.19575	N	0.999968	B;B	0.12013	0.004;0.005	B;B	0.06405	0.001;0.002	T	0.29549	-1.0008	10	0.87932	D	0	-20.5949	1.2936	0.02065	0.1877:0.113:0.3766:0.3227	.	620;631	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	620;342;631	ENSP00000374183:P620L;ENSP00000312463:P342L;ENSP00000386420:P631L	ENSP00000312463:P342L	P	-	2	0	CAMSAP1	137854469	0.940000	0.31905	0.036000	0.18154	0.059000	0.15707	2.312000	0.43726	0.593000	0.29745	0.561000	0.74099	CCG		0.542	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
TBL1X	6907	broad.mit.edu	37	X	9656243	9656243	+	Missense_Mutation	SNP	G	G	A	rs200562052		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:9656243G>A	ENST00000217964.7	+	7	1184	c.544G>A	c.(544-546)Gtt>Att	p.V182I	TBL1X_ENST00000424279.1_Missense_Mutation_p.V131I|TBL1X_ENST00000536365.1_Missense_Mutation_p.V131I|TBL1X_ENST00000380961.1_Missense_Mutation_p.V131I|TBL1X_ENST00000407597.2_Missense_Mutation_p.V182I	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	182					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CTCAGCCGGCGTTTCCCACCA	0.632													G|||	1	0.000264901	0.0	0.0014	3775	,	,		9928	0.0		0.0	False		,,,				2504	0.0					uc004csr.3																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(544-546)Gtt>Att		Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.							32.0	25.0	28.0					X																	9656243		2198	4299	6497	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9656243G>A	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.544G>A	X.37:g.9656243G>A	ENSP00000217964:p.Val182Ile					TBL1X_uc004csq.4_Missense_Mutation_p.V131I|TBL1X_uc010ndr.3_Missense_Mutation_p.V131I|TBL1X_uc010ndq.3_Missense_Mutation_p.V182I|TBL1X_uc004css.3_Missense_Mutation_p.V133I	p.V182I	NM_005647	NP_001132940	O60907	TBL1X_HUMAN			6	1031	+		Hepatocellular(5;0.000888)	182					A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.544G>A	CCDS14133.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.07	1.828590	0.32329	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.55930	0.49;0.62;0.62;0.62;0.49	4.63	1.87	0.25490	.	.	.	.	.	T	0.38026	0.1025	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.23368	-1.0190	9	0.36615	T	0.2	.	8.6526	0.34044	0.2585:0.0:0.7415:0.0	.	145;182	Q59F53;O60907	.;TBL1X_HUMAN	I	182;131;131;131;182	ENSP00000385988:V182I;ENSP00000394097:V131I;ENSP00000445317:V131I;ENSP00000370348:V131I;ENSP00000217964:V182I	ENSP00000217964:V182I	V	+	1	0	TBL1X	9616243	0.654000	0.27367	0.000000	0.03702	0.037000	0.13140	3.816000	0.55658	0.270000	0.21984	0.513000	0.50165	GTT		0.632	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647	
POLA1	5422	broad.mit.edu	37	X	24759540	24759540	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:24759540C>T	ENST00000379059.3	+	21	2262	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	POLA1_ENST00000379068.3_Silent_p.A755A	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	749					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGAAAGATGCCAAGTTCATTT	0.348																																						uc004dbl.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(2245-2247)gcC>gcT		Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	Clofarabine(DB00631)|Fludarabine(DB01073)						140.0	118.0	125.0					X																	24759540		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24759540C>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2247C>T	X.37:g.24759540C>T							p.A749A	NM_016937	NP_058633	P09884	DPOLA_HUMAN			20	2262	+			749					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.2247C>T	CCDS14214.1																																																																																				0.348	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	
SATL1	340562	broad.mit.edu	37	X	84362599	84362599	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:84362599G>A	ENST00000395409.3	-	1	1375	c.815C>T	c.(814-816)cCa>cTa	p.P272L	SATL1_ENST00000509231.1_Missense_Mutation_p.P459L|SATL1_ENST00000332921.5_Missense_Mutation_p.P272L			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	272	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTAGTGCCTGGTTGTCTCAT	0.592																																						uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1375-1377)cCa>cTa		Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							152.0	114.0	127.0					X																	84362599		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362599G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.815C>T	X.37:g.84362599G>A	ENSP00000378804:p.Pro272Leu						p.P459L	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN			0	1376	-			272			N-acetyltransferase.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1376C>T		.	.	.	.	.	.	.	.	.	.	G	13.40	2.224895	0.39300	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40476	1.03;1.03;1.03	3.8	-4.18	0.03846	.	1.403200	0.05352	N	0.532044	T	0.44138	0.1279	L	0.37850	1.14	0.09310	N	1	D;B	0.89917	1.0;0.05	D;B	0.78314	0.991;0.028	T	0.43556	-0.9384	10	0.21540	T	0.41	.	2.3864	0.04366	0.1976:0.376:0.2965:0.13	.	272;459	Q86VE3;E9PB72	SATL1_HUMAN;.	L	272;272;459	ENSP00000378804:P272L;ENSP00000329115:P272L;ENSP00000425421:P459L	ENSP00000329115:P272L	P	-	2	0	SATL1	84249255	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.142000	0.03203	-0.838000	0.04218	0.600000	0.82982	CCA		0.592	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
PCDH11X	27328	broad.mit.edu	37	X	91132676	91132676	+	Missense_Mutation	SNP	C	C	G	rs375364508		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132676C>G	ENST00000373094.1	+	2	2282	c.1437C>G	c.(1435-1437)aaC>aaG	p.N479K	PCDH11X_ENST00000298274.8_Missense_Mutation_p.N479K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N479K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N479K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N479K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N479K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N479K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N479K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N479K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAGAATAACTCTCCTGGCA	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1435-1437)aaC>aaG		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							81.0	70.0	74.0					X																	91132676		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132676C>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1437C>G	X.37:g.91132676C>G	ENSP00000362186:p.Asn479Lys					PCDH11X_uc004efl.2_Missense_Mutation_p.N479K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N479K|PCDH11X_uc004efm.2_Missense_Mutation_p.N479K|PCDH11X_uc004efn.2_Missense_Mutation_p.N479K|PCDH11X_uc004efo.2_Missense_Mutation_p.N479K|PCDH11X_uc004efh.2_Missense_Mutation_p.N479K|PCDH11X_uc004efj.1_Missense_Mutation_p.N479K	p.N479K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2282	+			479			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1437C>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356590	0.24598	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.38	1.04	0.20106	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.73430	2.235	0.45621	D	0.998557	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999	T	0.63888	-0.6535	10	0.87932	D	0	.	10.0152	0.42010	0.0:0.5055:0.0:0.4945	.	479;479;479;479;479;479;479;479	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	479	ENSP00000378746:N479K;ENSP00000362186:N479K;ENSP00000362189:N479K;ENSP00000355040:N479K;ENSP00000362180:N479K;ENSP00000423762:N479K;ENSP00000355105:N479K;ENSP00000384758:N479K;ENSP00000298274:N479K	ENSP00000298274:N479K	N	+	3	2	PCDH11X	91019332	1.000000	0.71417	0.996000	0.52242	0.443000	0.32047	1.315000	0.33608	0.121000	0.18284	0.544000	0.68410	AAC		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91132704	91132704	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132704A>T	ENST00000373094.1	+	2	2310	c.1465A>T	c.(1465-1467)Agt>Tgt	p.S489C	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S489C|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S489C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S489C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S489C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S489C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S489C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S489C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S489C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACGAAAGTAAGTGCAATGGA	0.453																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1465-1467)Agt>Tgt		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							97.0	79.0	85.0					X																	91132704		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132704A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1465A>T	X.37:g.91132704A>T	ENSP00000362186:p.Ser489Cys					PCDH11X_uc004efl.2_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.2_Missense_Mutation_p.S489C|PCDH11X_uc004efm.2_Missense_Mutation_p.S489C|PCDH11X_uc004efn.2_Missense_Mutation_p.S489C|PCDH11X_uc004efo.2_Missense_Mutation_p.S489C|PCDH11X_uc004efh.2_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C	p.S489C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2310	+			489			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1465A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814394	0.32053	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.041023	0.85682	D	0.000000	T	0.71854	0.3389	M	0.87180	2.865	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.992;1.0;1.0;1.0;1.0;0.999;0.999	T	0.76683	-0.2869	10	0.56958	D	0.05	.	13.5121	0.61519	1.0:0.0:0.0:0.0	.	489;489;489;489;489;489;489;489	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	C	489	ENSP00000378746:S489C;ENSP00000362186:S489C;ENSP00000362189:S489C;ENSP00000355040:S489C;ENSP00000362180:S489C;ENSP00000423762:S489C;ENSP00000355105:S489C;ENSP00000384758:S489C;ENSP00000298274:S489C	ENSP00000298274:S489C	S	+	1	0	PCDH11X	91019360	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	8.999000	0.93557	1.786000	0.52430	0.441000	0.28932	AGT		0.453	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
LONRF3	79836	broad.mit.edu	37	X	118108897	118108897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:118108897C>T	ENST00000371628.3	+	1	185	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	LONRF3_ENST00000304778.7_Missense_Mutation_p.R52W|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	52							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCTACCGACGCGGGAGCCAGA	0.677																																						uc004eqw.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(154-156)Cgg>Tgg		Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.							13.0	14.0	14.0					X																	118108897		2171	4262	6433	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118108897C>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.154C>T	X.37:g.118108897C>T	ENSP00000360690:p.Arg52Trp					LONRF3_uc004eqx.3_Missense_Mutation_p.R52W|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'Flank	p.R52W	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			0	185	+			52					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.154C>T	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965978	0.34659	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	D;D;T	0.82619	-1.63;-1.63;-1.34	4.79	2.9	0.33743	.	0.711761	0.12956	N	0.425456	T	0.76877	0.4049	N	0.22421	0.69	0.19775	N	0.999957	D;D	0.71674	0.998;0.99	P;B	0.50049	0.629;0.425	T	0.66392	-0.5935	10	0.66056	D	0.02	-4.574	8.1415	0.31086	0.3128:0.538:0.1492:0.0	.	52;52	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	W	52	ENSP00000360691:R52W;ENSP00000307732:R52W;ENSP00000360690:R52W	ENSP00000307732:R52W	R	+	1	2	LONRF3	117992925	0.000000	0.05858	0.042000	0.18584	0.299000	0.27559	0.198000	0.17217	0.999000	0.39023	-0.353000	0.07706	CGG		0.677	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778	
ZBTB33	10009	broad.mit.edu	37	X	119388318	119388318	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:119388318G>A	ENST00000326624.2	+	2	1276	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	ZBTB33_ENST00000557385.1_Missense_Mutation_p.V350I	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	350					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.V350I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGACTCGGCCGTCAGTAATAC	0.413																																						uc022cdm.1																			1	Substitution - Missense(1)	p.V350I(2)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1048-1050)Gtc>Atc		Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.							154.0	135.0	141.0					X																	119388318		2203	4300	6503	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388318G>A	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1048G>A	X.37:g.119388318G>A	ENSP00000314153:p.Val350Ile					ZBTB33_uc010nqm.1_Missense_Mutation_p.V350I|ZBTB33_uc004esn.1_Missense_Mutation_p.V350I	p.V350I	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			0	1048	+			350					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.1048G>A	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445155	0.43429	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.10960	2.82;2.82	5.55	4.68	0.58851	.	0.070286	0.56097	D	0.000035	T	0.17916	0.0430	L	0.27053	0.805	0.39158	D	0.96234	D	0.69078	0.997	D	0.70487	0.969	T	0.06954	-1.0798	10	0.30854	T	0.27	-4.5799	11.1759	0.48598	0.0871:0.0:0.9129:0.0	.	350	Q86T24	KAISO_HUMAN	I	350	ENSP00000314153:V350I;ENSP00000450969:V350I	ENSP00000314153:V350I	V	+	1	0	ZBTB33;AC002086.1	119272346	0.999000	0.42202	0.841000	0.33234	0.947000	0.59692	2.849000	0.48286	1.227000	0.43598	0.513000	0.50165	GTC		0.413	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777	
STAG2	10735	broad.mit.edu	37	X	123176479	123176479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:123176479delC	ENST00000371160.1	+	7	736	c.446delC	c.(445-447)actfs	p.T149fs	STAG2_ENST00000371157.3_Frame_Shift_Del_p.T149fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.T149fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.T80fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.T149fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.T149fs|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	149					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CGAAAAATGACTGAAGAATTC	0.299																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(445-447)actfs		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							78.0	74.0	75.0					X																	123176479		2203	4300	6503	SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123176479delC	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.446delC	X.37:g.123176479delC	ENSP00000360202:p.Thr149fs					STAG2_uc004etz.4_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.3_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.3_Frame_Shift_Del_p.T149fs	p.T149fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			6	850	+			149					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.446delC	CCDS14607.1																																																																																				0.299	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Start_Codon_Ins	INS	-	-	T	rs201673579|rs369256758		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:135961585_135961586insT	ENST00000320676.7	-	0	155_156				RBMX_ENST00000562646.1_Start_Codon_Ins|RBMX_ENST00000431446.3_Start_Codon_Ins|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_De_novo_Start_OutOfFrame|RBMX_ENST00000565438.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													?|T|TT|unsure	13	0.00344371	0.0038	0.0043	3775	,	,		12447	0.002		0.002	False		,,,				2504	0.001					uc004fae.2																			1	Unknown(1)	p.?(1)	ovary(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(1-3)atgfs		Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.																																				SO:0001582	initiator_codon_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961585_135961586insT		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.2dupA	X.37:g.135961586_135961586dupT						RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	p.M1fs	NM_002139	NP_002130	P38159	HNRPG_HUMAN			1	211_212	-	Acute lymphoblastic leukemia(192;0.000127)		1					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	ENST00000320676.7	37	c.1_2insA	CCDS14661.1																																																																																				0.391	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139	
PLXNB3	5365	broad.mit.edu	37	X	153033075	153033075	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153033075C>T	ENST00000361971.5	+	3	907	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R288C|U52111.14_ENST00000416854.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTGGCCCGCGTCTGCCT	0.721																																						uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(862-864)Cgc>Tgc		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							15.0	13.0	14.0					X																	153033075		2181	4276	6457	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033075C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.793C>T	X.37:g.153033075C>T	ENSP00000355378:p.Arg265Cys					PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.R265C|PLXNB3_uc011mzd.1_Intron	p.R288C	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			3	1133	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		265			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.862C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349609	0.41599	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.19669	2.13;2.13	5.1	4.22	0.49857	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.074703	0.52532	D	0.000064	T	0.50650	0.1628	M	0.88512	2.96	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.57225	-0.7848	10	0.87932	D	0	.	11.245	0.48991	0.3295:0.6705:0.0:0.0	.	288;265	F5H773;Q9ULL4	.;PLXB3_HUMAN	C	288;265	ENSP00000442736:R288C;ENSP00000355378:R265C	ENSP00000355378:R265C	R	+	1	0	PLXNB3	152686269	0.684000	0.27642	0.232000	0.24009	0.154000	0.21943	1.390000	0.34464	0.919000	0.36945	0.529000	0.55759	CGC		0.721	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
FLNA	2316	broad.mit.edu	37	X	153588484	153588484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153588484C>T	ENST00000369850.3	-	22	3915	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_ENST00000422373.1_Missense_Mutation_p.G1227R|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1227					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637																																						uc004fkk.2																			0				breast(6)	6						c.(3679-3681)Ggg>Agg		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							37.0	43.0	41.0					X																	153588484		2063	4170	6233	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588484C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3679G>A	X.37:g.153588484C>T	ENSP00000358866:p.Gly1227Arg					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1227R	p.G1227R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3928	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1227					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3679G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635425	0.67130	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.82	4.8	4.8	0.61643	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99849	1.1069	10	0.87932	D	0	.	17.1938	0.86887	0.0:1.0:0.0:0.0	.	1227;1227	P21333-2;P21333	.;FLNA_HUMAN	R	1227;1200;1227;1227;1227	ENSP00000353467:G1227R;ENSP00000416926:G1227R;ENSP00000358866:G1227R;ENSP00000358863:G1227R	ENSP00000358863:G1227R	G	-	1	0	FLNA	153241678	1.000000	0.71417	0.980000	0.43619	0.497000	0.33675	6.063000	0.71162	1.981000	0.57761	0.436000	0.28706	GGG		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
PLXNA3	55558	broad.mit.edu	37	X	153694763	153694763	+	Silent	SNP	C	C	T	rs199634043		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153694763C>T	ENST00000369682.3	+	16	3019	c.2844C>T	c.(2842-2844)tcC>tcT	p.S948S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	948	IPT/TIG 2.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCGGCGTCCGGGGGCACAC	0.672																																						uc004flm.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2842-2844)tcC>tcT		Homo sapiens plexin A3 (PLXNA3), mRNA.							65.0	76.0	73.0					X																	153694763		2202	4300	6502	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694763C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2844C>T	X.37:g.153694763C>T							p.S948S	NM_017514	NP_059984	P51805	PLXA3_HUMAN			15	3017	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		948			IPT/TIG 2.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2844C>T	CCDS14752.1																																																																																				0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
