#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
MIB2	142678	broad.mit.edu	37	1	1563943	1563943	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:1563943G>A	ENST00000357210.4	+	16	2433	c.2217G>A	c.(2215-2217)gtG>gtA	p.V739V	MIB2_ENST00000378710.3_Silent_p.V703V|MIB2_ENST00000355826.5_Silent_p.V782V|MIB2_ENST00000378708.1_Silent_p.V645V|MIB2_ENST00000378712.1_Silent_p.V616V|MIB2_ENST00000504599.1_Silent_p.V695V|MIB2_ENST00000518681.1_Silent_p.V731V|MIB2_ENST00000520777.1_Silent_p.V792V|MIB2_ENST00000505820.2_Silent_p.V796V|MIB2_ENST00000360522.4_Silent_p.V704V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	739					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCCCACGTGGGGCTGGTGC	0.697																																						uc001agg.2		NaN																	0					0						c.(2215-2217)GTG>GTA		mindbomb homolog 2							11.0	15.0	14.0					1																	1563943		2101	4201	6302	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563943G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2217G>A	1.37:g.1563943G>A						MIB2_uc001agh.2_Silent_p.V725V|MIB2_uc001agi.2_Silent_p.V735V|MIB2_uc001agj.2_Silent_p.V580V|MIB2_uc001agk.2_Silent_p.V674V|MIB2_uc001agl.1_Silent_p.V695V|MIB2_uc001agm.2_Silent_p.V616V|MIB2_uc010nyq.1_Silent_p.V695V|MIB2_uc009vkh.2_Silent_p.V545V|MIB2_uc001agn.2_Silent_p.V371V|MIB2_uc001ago.2_5'Flank	p.V739V	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	16	2344	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)	739			ANK 7.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.2217G>A		.	.	.	.	.	.	.	.	.	.	G	7.450	0.642566	0.14451	.	.	ENSG00000197530	ENST00000514234	.	.	.	4.07	1.98	0.26296	.	.	.	.	.	T	0.45776	0.1359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25328	-1.0135	4	.	.	.	-26.431	3.3829	0.07261	0.0912:0.2812:0.4406:0.1871	.	.	.	.	R	555	.	.	G	+	1	0	MIB2	1553806	0.795000	0.28851	0.863000	0.33907	0.590000	0.36582	0.267000	0.18552	0.260000	0.21731	0.491000	0.48974	GGG		0.697	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_080875		3	9	0	0	0	1	0	3	9		
PTCHD2	57540	broad.mit.edu	37	1	11586880	11586880	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:11586880A>G	ENST00000294484.6	+	13	2924	c.2786A>G	c.(2785-2787)cAg>cGg	p.Q929R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q929R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	929					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCAAGGAGCAGCAGCACACC	0.592																																						uc001ash.3		NaN																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(2785-2787)CAG>CGG		patched domain containing 2							24.0	29.0	27.0					1																	11586880		2067	4199	6266	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11586880A>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2786A>G	1.37:g.11586880A>G	ENSP00000294484:p.Gln929Arg					PTCHD2_uc001asi.1_Missense_Mutation_p.Q929R	p.Q929R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	13	2924	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	929			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.2786A>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464528	0.84425	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90676	-2.71;-2.71	5.58	5.58	0.84498	.	0.065925	0.64402	D	0.000008	D	0.92130	0.7505	L	0.32530	0.975	0.51012	D	0.999909	D	0.63880	0.993	D	0.70227	0.968	D	0.92525	0.6028	10	0.51188	T	0.08	-17.0426	14.9317	0.70919	1.0:0.0:0.0:0.0	.	929	Q9P2K9	PTHD2_HUMAN	R	929	ENSP00000294484:Q929R;ENSP00000374226:Q929R	ENSP00000294484:Q929R	Q	+	2	0	PTCHD2	11509467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.165000	0.71891	2.119000	0.64992	0.379000	0.24179	CAG		0.592	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561		13	40	0	0	0	1	0	13	40		
NPPB	4879	broad.mit.edu	37	1	11918889	11918889	+	Start_Codon_SNP	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:11918889A>T	ENST00000376468.3	-	1	99	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	1					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CTGGGGATCCATGTCTCTGGA	0.657																																						uc001atj.2		NaN																	0				ovary(2)	2						c.(1-3)ATG>AAG		natriuretic peptide precursor B preproprotein	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						56.0	67.0	63.0					1																	11918889		2203	4300	6503	SO:0001582	initiator_codon_variant	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918889A>T	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.2T>A	1.37:g.11918889A>T	ENSP00000365651:p.Met1Lys						p.M1K	NM_002521	NP_002512	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	104	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1					B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	c.2T>A	CCDS140.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459524	0.63401	.	.	ENSG00000120937	ENST00000376468	T	0.29917	1.55	4.24	4.24	0.50183	.	0.296043	0.34628	N	0.003815	T	0.51975	0.1706	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.55903	-0.8067	9	0.87932	D	0	.	9.6918	0.40134	1.0:0.0:0.0:0.0	.	1	P16860	ANFB_HUMAN	K	1	ENSP00000365651:M1K	ENSP00000365651:M1K	M	-	2	0	NPPB	11841476	0.991000	0.36638	0.461000	0.27105	0.006000	0.05464	1.217000	0.32455	1.798000	0.52647	0.533000	0.62120	ATG		0.657	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1		NM_002521	Missense_Mutation	24	43	0	0	0	1	0	24	43		
DDI2	84301	broad.mit.edu	37	1	15959933	15959933	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:15959933G>C	ENST00000480945.1	+	4	676		c.e4-1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)								aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TATTTTTGTAGAGAAATTTTC	0.393																																						uc001awx.1		NaN																	0					0						c.e4-1		DNA-damage inducible protein 2							118.0	146.0	136.0					1																	15959933		2203	4300	6503	SO:0001630	splice_region_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15959933G>C		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.506-1G>C	1.37:g.15959933G>C						DDI2_uc001aww.2_Splice_Site_p.E169_splice|DDI2_uc009voj.1_Splice_Site	p.E169_splice	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	602	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)						A8KAE1|Q7RTZ0|Q9BRT1	Splice_Site	SNP	ENST00000480945.1	37	c.506_splice	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287202	0.80803	.	.	ENSG00000197312	ENST00000480945	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3107	0.94186	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDI2	15832520	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	9.400000	0.97290	2.657000	0.90304	0.655000	0.94253	.		0.393	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1		NM_032341	Intron	78	149	0	0	0	1	0	78	149		
DDI2	84301	broad.mit.edu	37	1	15978369	15978369	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:15978369C>G	ENST00000480945.1	+	8	1333	c.1162C>G	c.(1162-1164)Caa>Gaa	p.Q388E		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	388							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAAGCCCTTCAAAAATCAGC	0.512																																						uc001awx.1		NaN																	0					0						c.(1162-1164)CAA>GAA		DNA-damage inducible protein 2							69.0	67.0	67.0					1																	15978369		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15978369C>G		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1162C>G	1.37:g.15978369C>G	ENSP00000417748:p.Gln388Glu					DDI2_uc009voj.1_Missense_Mutation_p.Q129E	p.Q388E	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	8	1258	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	388					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.1162C>G	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699967	0.48307	.	.	ENSG00000197312	ENST00000480945	T	0.21734	1.99	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000002	T	0.15262	0.0368	L	0.27053	0.805	0.52501	D	0.999955	B	0.21905	0.062	B	0.19391	0.025	T	0.05146	-1.0903	10	0.05721	T	0.95	-0.1382	18.4942	0.90858	0.0:1.0:0.0:0.0	.	388	Q5TDH0	DDI2_HUMAN	E	388	ENSP00000417748:Q388E	ENSP00000417748:Q388E	Q	+	1	0	DDI2	15850956	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	7.487000	0.81328	2.484000	0.83849	0.467000	0.42956	CAA		0.512	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1		NM_032341		13	16	0	0	0	1	0	13	16		
CLCNKA	1187	broad.mit.edu	37	1	16358726	16358726	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:16358726G>A	ENST00000331433.4	+	17	1804	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	CLCNKA_ENST00000375692.1_Silent_p.Q595Q|CLCNKA_ENST00000420078.1_Silent_p.Q595Q|CLCNKA_ENST00000439316.2_Silent_p.Q552Q|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	595	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCATCGTGCAGAGGGCCCAGC	0.642																																						uc001axu.2		NaN																	0				ovary(1)	1						c.(1783-1785)CAG>CAA		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						39.0	39.0	39.0					1																	16358726		2203	4295	6498	SO:0001819	synonymous_variant	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16358726G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1785G>A	1.37:g.16358726G>A						CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.Q595Q|CLCNKA_uc010obw.1_Silent_p.Q552Q|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR	p.Q595Q	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	17	1865	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	595			CBS 1.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.1785G>A	CCDS167.1																																																																																				0.642	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1				15	33	0	0	0	1	0	15	33		
KLHDC7A	127707	broad.mit.edu	37	1	18808004	18808004	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:18808004G>A	ENST00000400664.1	+	1	581	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	177						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCAGCCGACGGCAGCTG	0.607																																						uc001bax.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(529-531)GAC>AAC		kelch domain containing 7A							31.0	35.0	34.0					1																	18808004		2202	4297	6499	SO:0001583	missense	127707					integral to membrane		g.chr1:18808004G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.529G>A	1.37:g.18808004G>A	ENSP00000383505:p.Asp177Asn					KLHDC7A_uc009vpg.2_5'UTR	p.D177N	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	581	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	177					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.529G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981213	0.18812	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.73575	-0.76	2.67	0.683	0.17998	.	0.945876	0.08583	U	0.924315	T	0.49729	0.1574	N	0.14661	0.345	0.09310	N	1	B	0.27286	0.174	B	0.19946	0.027	T	0.29822	-0.9999	10	0.09084	T	0.74	.	5.1049	0.14779	0.1284:0.212:0.6596:0.0	.	177	Q5VTJ3	KLD7A_HUMAN	N	177;114	ENSP00000383505:D177N	ENSP00000383505:D177N	D	+	1	0	KLHDC7A	18680591	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.259000	0.18405	0.040000	0.15660	-0.973000	0.02599	GAC		0.607	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3		NM_152375		11	30	0	0	0	1	0	11	30		
MTFR1L	56181	broad.mit.edu	37	1	26153217	26153217	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:26153217G>A	ENST00000374301.3	+	5	659	c.351G>A	c.(349-351)ctG>ctA	p.L117L	MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000374307.5_Silent_p.L117L|MTFR1L_ENST00000374300.3_Silent_p.L117L|MTFR1L_ENST00000474295.1_Silent_p.L117L|MTFR1L_ENST00000466284.1_Silent_p.L117L|MTFR1L_ENST00000526894.1_Silent_p.L117L|MTFR1L_ENST00000374303.2_Silent_p.L117L|MTFR1L_ENST00000524618.1_Silent_p.L20L	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	117																	TTCTGGCCCTGAAGAAGCCAG	0.607																																						uc001bkq.3		NaN																	0				pancreas(1)	1						c.(349-351)CTG>CTA		hypothetical protein LOC56181 isoform a							59.0	64.0	62.0					1																	26153217		2023	4184	6207	SO:0001819	synonymous_variant	56181							g.chr1:26153217G>A		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.351G>A	1.37:g.26153217G>A						FAM54B_uc001bkr.3_Silent_p.L117L|FAM54B_uc010oet.1_Silent_p.L150L|FAM54B_uc009vrz.2_Silent_p.L114L|FAM54B_uc001bks.3_Silent_p.L117L|FAM54B_uc001bkt.3_Silent_p.L117L|FAM54B_uc001bku.3_Silent_p.L114L|FAM54B_uc001bkv.3_Silent_p.L20L	p.L117L	NM_001099625	NP_001093095	Q9H019	FA54B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)	5	561	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	117					A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Silent	SNP	ENST00000374301.3	37	c.351G>A	CCDS41284.1																																																																																				0.607	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1		NM_019557		33	60	0	0	0	1	0	33	60		
SLC9A1	6548	broad.mit.edu	37	1	27480481	27480481	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:27480481C>T	ENST00000263980.3	-	1	920	c.345G>A	c.(343-345)atG>atA	p.M115I	SLC9A1_ENST00000374086.3_Missense_Mutation_p.M115I|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	115					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TACCTATCTTCATGAGGCAGG	0.587																																						uc001bnm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(343-345)ATG>ATA		solute carrier family 9, isoform A1	Amiloride(DB00594)						65.0	71.0	69.0					1																	27480481		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27480481C>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.345G>A	1.37:g.27480481C>T	ENSP00000263980:p.Met115Ile					SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.M115I	p.M115I	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	1	971	-			115			Helical; Name=M2; (Potential).		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.345G>A	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631867	0.87660	.	.	ENSG00000090020	ENST00000263980;ENST00000374086;ENST00000374084	T;T;T	0.41065	1.01;1.01;1.01	4.9	4.9	0.64082	Cation/H+ exchanger (1);	0.081042	0.85682	D	0.000000	T	0.38983	0.1061	N	0.17838	0.53	0.80722	D	1	D;B	0.58268	0.982;0.27	P;B	0.51487	0.671;0.18	T	0.33497	-0.9866	10	0.72032	D	0.01	.	13.452	0.61176	0.0:1.0:0.0:0.0	.	115;115	P19634-2;P19634	.;SL9A1_HUMAN	I	115	ENSP00000263980:M115I;ENSP00000363199:M115I;ENSP00000363197:M115I	ENSP00000263980:M115I	M	-	3	0	SLC9A1	27353068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.525000	0.60559	2.564000	0.86499	0.655000	0.94253	ATG		0.587	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2		NM_003047		23	50	0	0	0	1	0	23	50		
COL16A1	1307	broad.mit.edu	37	1	32157645	32157645	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:32157645G>T	ENST00000373672.3	-	17	1734	c.1218C>A	c.(1216-1218)gaC>gaA	p.D406E	COL16A1_ENST00000373668.3_Missense_Mutation_p.D406E|COL16A1_ENST00000271069.6_Missense_Mutation_p.D406E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	406	Collagen-like 1.|Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGATGCCTCCGTCGCCCTTCT	0.647																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NaN																	0				ovary(8)	8						c.(1216-1218)GAC>GAA		alpha 1 type XVI collagen precursor							66.0	73.0	71.0					1																	32157645		2046	4195	6241	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32157645G>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1218C>A	1.37:g.32157645G>T	ENSP00000362776:p.Asp406Glu					COL16A1_uc001btj.1_Missense_Mutation_p.D235E|COL16A1_uc001btl.3_Missense_Mutation_p.D406E	p.D406E	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	17	1583	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	406			Triple-helical region 9 (COL9) with 3 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.1218C>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369633	0.42003	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.95949	-3.36;-3.86;-3.36;-3.3	4.95	-1.5	0.08691	.	0.056925	0.64402	D	0.000002	D	0.92443	0.7601	L	0.28014	0.82	0.25262	N	0.989586	P;D;D	0.71674	0.852;0.998;0.998	P;D;D	0.68483	0.667;0.958;0.929	D	0.85489	0.1184	10	0.02654	T	1	.	8.4825	0.33052	0.6155:0.0:0.3845:0.0	.	406;406;406	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	E	406;406;406;125	ENSP00000362776:D406E;ENSP00000271069:D406E;ENSP00000362772:D406E;ENSP00000362771:D125E	ENSP00000271069:D406E	D	-	3	2	COL16A1	31930232	0.000000	0.05858	0.978000	0.43139	0.878000	0.50629	-0.984000	0.03755	-0.241000	0.09681	0.462000	0.41574	GAC		0.647	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2		NM_001856		21	49	1	0	2.39187e-15	1	2.50233e-15	21	49		
CSMD2	114784	broad.mit.edu	37	1	33989000	33989000	+	Silent	SNP	A	A	G	rs372999987		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:33989000A>G	ENST00000373381.4	-	67	10592	c.10416T>C	c.(10414-10416)gaT>gaC	p.D3472D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGATGAAAATCTTCTTTCT	0.383																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(9982-9984)GAT>GAC		CUB and Sushi multiple domains 2							91.0	84.0	86.0					1																	33989000		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33989000A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10416T>C	1.37:g.33989000A>G						CSMD2_uc001bxm.1_Silent_p.D3472D	p.D3328D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			66	10013	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3328			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.9984T>C																																																																																					0.383	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		6	3	0	0	0	1	0	6	3		
SFPQ	6421	broad.mit.edu	37	1	35657035	35657035	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:35657035G>A	ENST00000357214.5	-	2	1022	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	308	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCCTCCGTGATATCAGCAG	0.403			T	TFE3	papillary renal cell																																	uc001bys.2		NaN		Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8						c.(922-924)ATC>ATT		splicing factor proline/glutamine rich							104.0	105.0	105.0					1																	35657035		2203	4300	6503	SO:0001819	synonymous_variant	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding	g.chr1:35657035G>A	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.924C>T	1.37:g.35657035G>A						SFPQ_uc001byr.2_5'Flank	p.I308I	NM_005066	NP_005057	P23246	SFPQ_HUMAN			2	1017	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	308			RRM 1.		P30808|Q5SZ71	Silent	SNP	ENST00000357214.5	37	c.924C>T	CCDS388.1																																																																																				0.403	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4		NM_005066		15	16	0	0	0	1	0	15	16		
THRAP3	9967	broad.mit.edu	37	1	36762187	36762187	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:36762187G>A	ENST00000354618.5	+	9	2343	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	THRAP3_ENST00000469141.2_Missense_Mutation_p.E707K	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	707	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGATAGGCTGAGGGAAAATA	0.408			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NaN		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(2119-2121)GAG>AAG		thyroid hormone receptor associated protein 3							83.0	85.0	84.0					1																	36762187		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36762187G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2119G>A	1.37:g.36762187G>A	ENSP00000346634:p.Glu707Lys					THRAP3_uc001caf.3_Missense_Mutation_p.E707K	p.E707K	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			9	2343	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	707					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2119G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682289	0.88542	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.10288	2.89;2.89	5.51	5.51	0.81932	.	0.070670	0.64402	D	0.000019	T	0.28599	0.0708	L	0.56769	1.78	0.41984	D	0.990815	D	0.60575	0.988	P	0.61003	0.882	T	0.00205	-1.1922	10	0.56958	D	0.05	-19.583	18.7743	0.91904	0.0:0.0:1.0:0.0	.	707	Q9Y2W1	TR150_HUMAN	K	707	ENSP00000346634:E707K;ENSP00000433825:E707K	ENSP00000346634:E707K	E	+	1	0	THRAP3	36534774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.282000	0.78630	2.751000	0.94390	0.650000	0.86243	GAG		0.408	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119		27	15	0	0	0	1	0	27	15		
ECHDC2	55268	broad.mit.edu	37	1	53387303	53387303	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:53387303G>A	ENST00000371522.4	-	1	136	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	ECHDC2_ENST00000358358.5_Missense_Mutation_p.R15W|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000480312.2_5'Flank|ECHDC2_ENST00000541281.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	15					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCGCGGGCCCGAAGGGGCCTC	0.731																																						uc001cup.3		NaN																	0				central_nervous_system(1)	1						c.(43-45)CGG>TGG		enoyl Coenzyme A hydratase domain containing 2							5.0	6.0	5.0					1																	53387303		2013	4134	6147	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53387303G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.43C>T	1.37:g.53387303G>A	ENSP00000360577:p.Arg15Trp					ECHDC2_uc001cun.2_5'UTR|ECHDC2_uc001cuo.3_Missense_Mutation_p.R15W|ECHDC2_uc010onk.1_5'UTR|ECHDC2_uc010onl.1_5'Flank|ECHDC2_uc010onm.1_5'UTR|ECHDC2_uc010onn.1_5'UTR	p.R15W	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN			1	289	-			15					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.43C>T	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127513	0.37533	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000467988	T;T;T	0.62105	0.13;0.05;0.05	3.91	-3.43	0.04810	.	2.686490	0.01724	N	0.028481	T	0.37705	0.1013	N	0.08118	0	0.21147	N	0.999779	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13522	-1.0506	10	0.37606	T	0.19	.	3.2876	0.06937	0.2152:0.4893:0.1808:0.1147	.	15;15	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	W	15	ENSP00000360577:R15W;ENSP00000351125:R15W;ENSP00000441962:R15W	ENSP00000351125:R15W	R	-	1	2	ECHDC2	53159891	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.964000	0.03833	-0.668000	0.05296	-1.293000	0.01348	CGG		0.731	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3		NM_018281		5	6	0	0	0	1	0	5	6		
TM2D1	83941	broad.mit.edu	37	1	62190818	62190818	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:62190818C>T	ENST00000294613.5	-	0	277				TM2D1_ENST00000606498.1_5'Flank|TM2D1_ENST00000371177.2_5'Flank|TM2D1_ENST00000371180.2_Missense_Mutation_p.S54N			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						TTTCTCGCCACTTCCGCTTCC	0.642																																						uc001czz.1		NaN																	0				ovary(1)	1						c.(-27--23)AAGTG>AAATG		beta-amyloid binding protein precursor							31.0	36.0	35.0					1																	62190818		1905	4083	5988			83941				apoptosis			g.chr1:62190818C>T	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000294613.5:c.-26G>A	1.37:g.62190818C>T								NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN			1	278	-								A6NDA8	Translation_Start_Site	SNP	ENST00000294613.5	37	c.-25G>A		.	.	.	.	.	.	.	.	.	.	C	13.24	2.178259	0.38511	.	.	ENSG00000162604	ENST00000371180	.	.	.	4.68	3.74	0.42951	.	2.396040	0.01856	N	0.036286	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29852	-0.9998	6	0.27785	T	0.31	0.5115	10.8031	0.46500	0.0:0.8083:0.1917:0.0	.	.	.	.	N	54	.	ENSP00000360222:S54N	S	-	2	0	TM2D1	61963406	0.944000	0.32072	0.819000	0.32651	0.014000	0.08584	2.037000	0.41174	1.268000	0.44264	0.462000	0.41574	AGT		0.642	TM2D1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032027		27	37	0	0	0	1	0	27	37		
C1orf141	400757	broad.mit.edu	37	1	67560923	67560923	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:67560923G>A	ENST00000371007.2	-	7	707	c.598C>T	c.(598-600)Cac>Tac	p.H200Y	C1orf141_ENST00000544837.1_Missense_Mutation_p.H200Y|C1orf141_ENST00000371006.1_Missense_Mutation_p.H200Y	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	200										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ATTACCATGTGAGAAGTTACT	0.343																																						uc001ddl.1		NaN																	0				ovary(1)	1						c.(598-600)CAC>TAC		hypothetical protein LOC400757							122.0	103.0	109.0					1																	67560923		2202	4300	6502	SO:0001583	missense	400757							g.chr1:67560923G>A	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.598C>T	1.37:g.67560923G>A	ENSP00000360046:p.His200Tyr					C1orf141_uc001ddm.1_Missense_Mutation_p.H200Y|C1orf141_uc001ddn.1_Intron	p.H200Y	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			6	709	-			200					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.598C>T	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419086	0.62622	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837;ENST00000371005;ENST00000448166	T;T;T	0.32988	1.43;1.43;1.43	5.36	-0.0213	0.13952	.	1.236830	0.05781	N	0.608671	T	0.07503	0.0189	L	0.27053	0.805	0.09310	N	1	B	0.24258	0.1	B	0.20767	0.031	T	0.37291	-0.9712	10	0.46703	T	0.11	2.2828	5.1981	0.15249	0.2575:0.2813:0.4612:0.0	.	200	Q5JVX7	CA141_HUMAN	Y	200;200;200;271;271	ENSP00000360046:H200Y;ENSP00000360045:H200Y;ENSP00000444018:H200Y	ENSP00000360044:H271Y	H	-	1	0	C1orf141	67333511	0.178000	0.23122	0.005000	0.12908	0.545000	0.35147	0.454000	0.21827	0.031000	0.15407	0.650000	0.86243	CAC		0.343	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2		NM_001013674		7	15	0	0	0	1	0	7	15		
ANKRD13C	81573	broad.mit.edu	37	1	70736618	70736618	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:70736618T>C	ENST00000370944.4	-	12	1729	c.1416A>G	c.(1414-1416)gtA>gtG	p.V472V	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Silent_p.V437V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	472					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGGAGCTACTACTTCTAAAA	0.323																																						uc001dex.3		NaN																	0					0						c.(1414-1416)GTA>GTG		ankyrin repeat domain 13C							53.0	56.0	55.0					1																	70736618		2199	4300	6499	SO:0001819	synonymous_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70736618T>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1416A>G	1.37:g.70736618T>C						ANKRD13C_uc009wbk.2_Silent_p.V437V	p.V472V	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			12	1742	-			472					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	c.1416A>G	CCDS648.2																																																																																				0.323	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1		NM_030816		11	23	0	0	0	1	0	11	23		
ZRANB2	9406	broad.mit.edu	37	1	71544365	71544365	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:71544365C>T	ENST00000370920.3	-	2	384	c.83G>A	c.(82-84)aGa>aAa	p.R28K	ZRANB2-AS2_ENST00000455406.1_RNA|ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R28K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	28					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ACAGCTGGTTCTTCTAGCAAA	0.274																																						uc001dft.2		NaN																	0				ovary(2)	2						c.(82-84)AGA>AAA		zinc finger protein 265 isoform 1							58.0	61.0	60.0					1																	71544365		2193	4297	6490	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71544365C>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.83G>A	1.37:g.71544365C>T	ENSP00000359958:p.Arg28Lys					uc001dfu.1_5'Flank|ZRANB2_uc001dfs.2_Missense_Mutation_p.R28K	p.R28K	NM_203350	NP_976225	O95218	ZRAB2_HUMAN			2	150	-			28			RanBP2-type 1.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.83G>A	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432119	0.96150	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	D;D	0.82167	-1.58;-1.58	5.74	5.74	0.90152	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	M	0.88775	2.98	0.80722	D	1	P;D	0.62365	0.92;0.991	D;P	0.63957	0.92;0.757	D	0.91390	0.5134	10	0.54805	T	0.06	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	28;28	O95218;O95218-2	ZRAB2_HUMAN;.	K	28	ENSP00000359958:R28K;ENSP00000254821:R28K	ENSP00000254821:R28K	R	-	2	0	ZRANB2	71316953	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.616000	0.67709	2.723000	0.93209	0.591000	0.81541	AGA		0.274	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1		NM_203350		31	64	0	0	0	1	0	31	64		
GBP4	115361	broad.mit.edu	37	1	89654466	89654466	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:89654466C>T	ENST00000355754.6	-	8	1306	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	403				IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTTCTTTTTCTCTATGGTGT	0.448																																						uc001dnb.2		NaN																	0					0						c.(1207-1209)GAG>GAA		guanylate binding protein 4							120.0	121.0	121.0					1																	89654466		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89654466C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1209G>A	1.37:g.89654466C>T							p.E403E	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	8	1325	-			403	IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889).				B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.1209G>A	CCDS721.1																																																																																				0.448	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1		NM_052941		58	91	0	0	0	1	0	58	91		
DR1	1810	broad.mit.edu	37	1	93812391	93812391	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:93812391G>A	ENST00000370272.4	+	1	947	c.189G>A	c.(187-189)aaG>aaA	p.K63K	DR1_ENST00000370267.1_Silent_p.K63K|RP4-717I23.3_ENST00000451302.2_RNA|RP4-717I23.3_ENST00000413606.1_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	63					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		AATCGGAAAAGAAGACCATCT	0.468																																						uc001dpu.2		NaN																	0					0						c.(187-189)AAG>AAA		down-regulator of transcription 1							77.0	72.0	73.0					1																	93812391		2203	4300	6503	SO:0001819	synonymous_variant	1810				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	g.chr1:93812391G>A	M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.189G>A	1.37:g.93812391G>A						uc001dps.2_5'Flank|uc001dpt.1_5'Flank|DR1_uc010otj.1_Silent_p.K63K	p.K63K	NM_001938	NP_001929	Q01658	NC2B_HUMAN		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	1	914	+		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)	63						Silent	SNP	ENST00000370272.4	37	c.189G>A	CCDS744.1																																																																																				0.468	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2		NM_001938		7	14	0	0	0	1	0	7	14		
DPYD	1806	broad.mit.edu	37	1	98187148	98187148	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:98187148T>A	ENST00000370192.3	-	5	501	c.401A>T	c.(400-402)gAt>gTt	p.D134V	DPYD_ENST00000423006.2_Missense_Mutation_p.D97V|DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.D134V	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	134					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TACACAAAGATCAGAGGTTGG	0.383																																						uc001drv.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(400-402)GAT>GTT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						119.0	111.0	114.0					1																	98187148		2203	4299	6502	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98187148T>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.401A>T	1.37:g.98187148T>A	ENSP00000359211:p.Asp134Val					DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.D134V	p.D134V	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	5	538	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	134					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.401A>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323179	0.81580	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.82803	-1.65;-1.65;-1.65	6.06	6.06	0.98353	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.304899	0.39146	N	0.001451	D	0.85969	0.5821	L	0.53249	1.67	0.80722	D	1	D;D	0.63880	0.992;0.993	P;D	0.63793	0.878;0.918	D	0.86368	0.1721	10	0.49607	T	0.09	-25.2891	16.6245	0.84952	0.0:0.0:0.0:1.0	.	134;134	E9PFN1;Q12882	.;DPYD_HUMAN	V	134;97;134	ENSP00000359211:D134V;ENSP00000398884:D97V;ENSP00000307107:D134V	ENSP00000307107:D134V	D	-	2	0	DPYD	97959736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.323000	0.78572	0.528000	0.53228	GAT		0.383	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110		12	61	0	0	0	1	0	12	61		
PLPPR4	9890	broad.mit.edu	37	1	99772144	99772144	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:99772144G>C	ENST00000370185.3	+	7	2367	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.E466Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.E566Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		624					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTGAGGGTTGAGGCTCACCC	0.562																																						uc001dse.2		NaN																	0				ovary(3)	3						c.(1870-1872)GAG>CAG		plasticity related gene 1							89.0	85.0	86.0					1																	99772144		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772144G>C																												ENST00000370185.3:c.1870G>C	1.37:g.99772144G>C	ENSP00000359204:p.Glu624Gln					LPPR4_uc010oue.1_Missense_Mutation_p.E566Q	p.E624Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1976	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	624					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1870G>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205444	0.79127	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.28454	2.17;2.14;1.61	5.9	5.9	0.94986	.	0.151429	0.46758	D	0.000266	T	0.41994	0.1183	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.991;0.942	T	0.03202	-1.1061	9	.	.	.	-33.6914	20.2822	0.98520	0.0:0.0:1.0:0.0	.	566;624	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Q	624;566;466	ENSP00000359204:E624Q;ENSP00000394913:E566Q;ENSP00000359203:E466Q	.	E	+	1	0	RP4-788L13.1	99544732	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.114000	0.94329	2.806000	0.96561	0.655000	0.94253	GAG		0.562	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2				20	37	0	0	0	1	0	20	37		
CELSR2	1952	broad.mit.edu	37	1	109805873	109805873	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:109805873C>T	ENST00000271332.3	+	8	4879	c.4818C>T	c.(4816-4818)ggC>ggT	p.G1606G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1606	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTTTGGGGGCAAGAGCTGCG	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	0				ovary(4)|lung(3)|skin(1)	8						c.(4816-4818)GGC>GGT		cadherin EGF LAG seven-pass G-type receptor 2							29.0	29.0	29.0					1																	109805873		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109805873C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4818C>T	1.37:g.109805873C>T							p.G1606G	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	8	4879	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1606			Extracellular (Potential).|EGF-like 4; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4818C>T	CCDS796.1																																																																																				0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		8	26	0	0	0	1	0	8	26		
SLC16A1	6566	broad.mit.edu	37	1	113456585	113456585	+	Silent	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:113456585A>C	ENST00000538576.1	-	5	2262	c.1431T>G	c.(1429-1431)gtT>gtG	p.V477V	SLC16A1_ENST00000369626.3_Silent_p.V477V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	477					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CTGCTTTGGTAACTTCATTTG	0.458																																						uc001ecx.2		NaN																	0				central_nervous_system(1)	1						c.(1429-1431)GTT>GTG		solute carrier family 16, member 1	Pyruvic acid(DB00119)						219.0	219.0	219.0					1																	113456585		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113456585A>C	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1431T>G	1.37:g.113456585A>C						SLC16A1_uc001ecy.2_Silent_p.V477V	p.V477V	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	5	2263	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	477			Cytoplasmic (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.1431T>G	CCDS858.1																																																																																				0.458	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1		NM_003051		55	75	0	0	0	1	0	55	75		
PHTF1	10745	broad.mit.edu	37	1	114246790	114246790	+	Splice_Site	SNP	C	C	T	rs202217945		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:114246790C>T	ENST00000369604.1	-	15	2287		c.e15-1		PHTF1_ENST00000369598.1_Splice_Site|PHTF1_ENST00000369600.1_Splice_Site|PHTF1_ENST00000357783.2_Splice_Site|PHTF1_ENST00000393357.2_Splice_Site|PHTF1_ENST00000369596.2_Splice_Site|PHTF1_ENST00000474926.1_Splice_Site			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1						transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGTCTCTGTGGAGTGA	0.428																																						uc009wgp.1		NaN																	0				ovary(1)	1						c.e14-1		putative homeodomain transcription factor 1		C		1,4405	2.1+/-5.4	0,1,2202	107.0	86.0	93.0			5.7	1.0	1		93	1,8599	1.2+/-3.3	0,1,4299	yes	splice-3	PHTF1	NM_006608.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154			114246790	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114246790C>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1804-1G>A	1.37:g.114246790C>T						PHTF1_uc001edn.2_Intron|PHTF1_uc001edm.2_Splice_Site_p.R359_splice	p.R602_splice	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2256	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)						Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Splice_Site	SNP	ENST00000369604.1	37	c.1804_splice	CCDS861.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046171	0.55110	2.27E-4	1.16E-4	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7072	0.96079	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHTF1	114048313	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.571000	0.82399	2.662000	0.90505	0.591000	0.81541	.		0.428	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1		NM_006608	Intron	11	22	0	0	0	1	0	11	22		
MAN1A2	10905	broad.mit.edu	37	1	117944919	117944919	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:117944919G>A	ENST00000356554.3	+	2	1149	c.414G>A	c.(412-414)caG>caA	p.Q138Q	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	138					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAGAAATTCAGACAGAGAAAA	0.403																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NaN																	0					0						c.(412-414)CAG>CAA		mannosidase, alpha, class 1A, member 2							67.0	72.0	70.0					1																	117944919		2203	4299	6502	SO:0001819	synonymous_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117944919G>A	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.414G>A	1.37:g.117944919G>A						MAN1A2_uc009whg.1_Intron	p.Q138Q	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1135	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	138			Lumenal (Potential).		Q9H510	Silent	SNP	ENST00000356554.3	37	c.414G>A	CCDS895.1																																																																																				0.403	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1		NM_006699		26	43	0	0	0	1	0	26	43		
WDR3	10885	broad.mit.edu	37	1	118502031	118502031	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:118502031G>C	ENST00000349139.5	+	27	2840	c.2793G>C	c.(2791-2793)aaG>aaC	p.K931N	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	931						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		agaagaggaagaggaaaaaga	0.368																																						uc010oxe.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(2791-2793)AAG>AAC		WD repeat-containing protein 3							70.0	77.0	75.0					1																	118502031		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118502031G>C	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2793G>C	1.37:g.118502031G>C	ENSP00000308179:p.Lys931Asn					WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	p.K931N	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	27	2859	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	931						Missense_Mutation	SNP	ENST00000349139.5	37	c.2793G>C	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580833	0.65992	.	.	ENSG00000065183	ENST00000349139	T	0.55052	0.54	5.47	0.259	0.15583	.	0.247362	0.46145	D	0.000305	T	0.13628	0.0330	N	0.08118	0	0.80722	D	1	B	0.31383	0.321	B	0.31812	0.136	T	0.04855	-1.0922	10	0.28530	T	0.3	-3.2619	10.4076	0.44274	0.4223:0.0:0.5777:0.0	.	931	Q9UNX4	WDR3_HUMAN	N	931	ENSP00000308179:K931N	ENSP00000308179:K931N	K	+	3	2	WDR3	118303554	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.346000	0.33964	0.029000	0.15352	0.609000	0.83330	AAG		0.368	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2		NM_006784		14	39	0	0	0	1	0	14	39		
TBX15	6913	broad.mit.edu	37	1	119456781	119456781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:119456781G>A	ENST00000369429.3	-	6	892	c.883C>T	c.(883-885)Cga>Tga	p.R295*	TBX15_ENST00000207157.3_Nonsense_Mutation_p.R189*			Q96SF7	TBX15_HUMAN	T-box 15	295					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AAAGGGTTTCGGTCAATTTTT	0.333																																						uc001ehl.1		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(565-567)CGA>TGA		T-box 15							90.0	92.0	91.0					1																	119456781		2203	4300	6503	SO:0001587	stop_gained	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119456781G>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.883C>T	1.37:g.119456781G>A	ENSP00000358437:p.Arg295*						p.R189*	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	6	880	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	295			T-box.		Q08E76|Q5JT54|Q5T9S7	Nonsense_Mutation	SNP	ENST00000369429.3	37	c.565C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.968492	0.97971	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429	.	.	.	5.68	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	14.5088	0.67769	0.0:0.0:0.4925:0.5075	.	.	.	.	X	59;189;295	.	ENSP00000207157:R189X	R	-	1	2	TBX15	119258304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.860000	0.27871	0.731000	0.32448	0.655000	0.94253	CGA		0.333	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1		NM_152380		15	23	0	0	0	1	0	15	23		
PDE4DIP	9659	broad.mit.edu	37	1	144874026	144874026	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:144874026G>A	ENST00000369354.3	-	31	5120	c.4931C>T	c.(4930-4932)tCc>tTc	p.S1644F	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1780F|PDE4DIP_ENST00000530740.1_Intron|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1644					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGATGGATGGAATCTATAAA	0.458			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4930-4932)TCC>TTC		phosphodiesterase 4D interacting protein isoform							321.0	333.0	329.0					1																	144874026		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144874026G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4931C>T	1.37:g.144874026G>A	ENSP00000358360:p.Ser1644Phe					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1600F|PDE4DIP_uc001elv.3_Missense_Mutation_p.S651F	p.S1644F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	31	5222	-			1644					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4931C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444921	0.43429	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	T;T;T;T	0.01947	4.54;4.63;4.62;4.63	5.27	2.43	0.29744	.	.	.	.	.	T	0.01156	0.0038	L	0.56769	1.78	0.80722	D	1	B;B	0.14438	0.01;0.006	B;B	0.16289	0.015;0.007	T	0.40646	-0.9552	9	0.51188	T	0.08	.	7.2899	0.26360	0.269:0.0:0.731:0.0	.	1600;1644	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	F	1600;1644;1644;1780	ENSP00000327209:S1600F;ENSP00000358360:S1644F;ENSP00000358363:S1644F;ENSP00000358366:S1780F	ENSP00000327209:S1600F	S	-	2	0	PDE4DIP	143585383	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.108000	0.41854	0.385000	0.24970	-0.142000	0.14014	TCC		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		58	267	0	0	0	1	0	58	267		
PDE4DIP	9659	broad.mit.edu	37	1	144917918	144917918	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:144917918G>A	ENST00000369354.3	-	11	1557	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	PDE4DIP_ENST00000479408.2_Silent_p.L243L|PDE4DIP_ENST00000369359.4_Silent_p.L593L|PDE4DIP_ENST00000530740.1_Silent_p.L593L|PDE4DIP_ENST00000313431.9_Silent_p.L619L|PDE4DIP_ENST00000369349.3_Silent_p.L456L|PDE4DIP_ENST00000369351.3_Silent_p.L456L|PDE4DIP_ENST00000529945.1_Silent_p.L619L|PDE4DIP_ENST00000369356.4_Silent_p.L456L|PDE4DIP_ENST00000313382.9_Silent_p.L522L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	456					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATACTGTAGGAGCTCCCGAA	0.348			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1366-1368)CTC>CTT		phosphodiesterase 4D interacting protein isoform							198.0	218.0	211.0					1																	144917918		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144917918G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1368C>T	1.37:g.144917918G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L522L|PDE4DIP_uc001emc.1_Silent_p.L456L|PDE4DIP_uc001emd.1_Silent_p.L456L|PDE4DIP_uc001emb.1_Silent_p.L619L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L243L	p.L456L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	11	1659	-			456			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.1368C>T	CCDS30824.1																																																																																				0.348	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		51	254	0	0	0	1	0	51	254		
TCHH	7062	broad.mit.edu	37	1	152084109	152084109	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:152084109G>A	ENST00000368804.1	-	2	1583	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	528	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGCTGCTGGAGCCTCTCTT	0.652																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1582-1584)CTC>CTT		trichohyalin							76.0	85.0	82.0					1																	152084109		2030	4179	6209	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084109G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1584C>T	1.37:g.152084109G>A						TCHH_uc009wne.1_Silent_p.L528L	p.L528L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		528			9 X 28 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.1584C>T	CCDS41396.1																																																																																				0.652	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		47	92	0	0	0	1	0	47	92		
CREB3L4	148327	broad.mit.edu	37	1	153941087	153941087	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:153941087G>A	ENST00000368607.3	+	2	352	c.86G>A	c.(85-87)gGa>gAa	p.G29E	CREB3L4_ENST00000368601.1_Missense_Mutation_p.G29E|CREB3L4_ENST00000368600.3_Missense_Mutation_p.G29E|SLC39A1_ENST00000310483.6_5'Flank|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000271889.4_Missense_Mutation_p.G29E|CREB3L4_ENST00000368603.1_Missense_Mutation_p.G29E|CREB3L4_ENST00000405694.3_5'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	29					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGAGCTGGGACTCCACTGC	0.617																																						uc001fdn.3		NaN																	0				ovary(1)	1						c.(85-87)GGA>GAA		cAMP responsive element binding protein 3-like							66.0	69.0	68.0					1																	153941087		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941087G>A	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.86G>A	1.37:g.153941087G>A	ENSP00000357596:p.Gly29Glu					SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_5'UTR|CREB3L4_uc001fdo.3_Missense_Mutation_p.G29E|CREB3L4_uc001fdm.1_Missense_Mutation_p.G29E|CREB3L4_uc001fdp.1_Missense_Mutation_p.G29E|CREB3L4_uc010peg.1_Missense_Mutation_p.G29E|CREB3L4_uc001fdr.2_Missense_Mutation_p.G29E|CREB3L4_uc001fdq.2_Missense_Mutation_p.G29E	p.G29E	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	352	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		29			Cytoplasmic (Potential).		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.86G>A	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221666	0.79464	.	.	ENSG00000143578	ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.61	3.62	0.41486	.	0.380247	0.24154	N	0.041057	T	0.48892	0.1525	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.998	D;P;P	0.77557	0.99;0.823;0.873	T	0.48115	-0.9063	10	0.59425	D	0.04	.	9.422	0.38557	0.0:0.0:0.788:0.212	.	29;29;29	B4E2G3;Q5T4L0;Q8TEY5	.;.;CR3L4_HUMAN	E	29	ENSP00000391847:G29E;ENSP00000357596:G29E;ENSP00000271889:G29E;ENSP00000357590:G29E;ENSP00000357592:G29E;ENSP00000357589:G29E;ENSP00000402308:G29E	ENSP00000271889:G29E	G	+	2	0	CREB3L4	152207711	0.988000	0.35896	0.957000	0.39632	0.980000	0.70556	2.205000	0.42770	2.533000	0.85409	0.561000	0.74099	GGA		0.617	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1		NM_130898		30	39	0	0	0	1	0	30	39		
CREB3L4	148327	broad.mit.edu	37	1	153941855	153941855	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:153941855G>T	ENST00000368607.3	+	4	733	c.467G>T	c.(466-468)aGt>aTt	p.S156I	CREB3L4_ENST00000368601.1_Missense_Mutation_p.S156I|CREB3L4_ENST00000368600.3_Missense_Mutation_p.S136I|SLC39A1_ENST00000310483.6_5'Flank|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S156I|CREB3L4_ENST00000368603.1_Missense_Mutation_p.S156I|CREB3L4_ENST00000405694.3_Missense_Mutation_p.S9I	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	156					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCATGGTCAGTGAGCTGCCC	0.557																																						uc001fdn.3		NaN																	0				ovary(1)	1						c.(466-468)AGT>ATT		cAMP responsive element binding protein 3-like							135.0	118.0	124.0					1																	153941855		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941855G>T	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.467G>T	1.37:g.153941855G>T	ENSP00000357596:p.Ser156Ile					SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_Missense_Mutation_p.S9I|CREB3L4_uc001fdo.3_Missense_Mutation_p.S136I|CREB3L4_uc001fdm.1_Missense_Mutation_p.S156I|CREB3L4_uc001fdp.1_Missense_Mutation_p.S136I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.S156I|CREB3L4_uc001fdq.2_Missense_Mutation_p.S136I	p.S156I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	733	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		156			Cytoplasmic (Potential).		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.467G>T	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654638	0.29425	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.78924	-1.22;-0.21;-0.26;-0.26;0.71;-0.26;-0.25;0.74	4.64	1.72	0.24424	.	0.553044	0.19132	N	0.121910	T	0.51822	0.1697	L	0.55481	1.735	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.52609	-0.8553	10	0.62326	D	0.03	.	6.6837	0.23134	0.2999:0.0:0.7001:0.0	.	136;156	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	I	9;136;156;156;156;156;136;156	ENSP00000385104:S9I;ENSP00000391847:S136I;ENSP00000357596:S156I;ENSP00000271889:S156I;ENSP00000357590:S156I;ENSP00000357592:S156I;ENSP00000357589:S136I;ENSP00000402308:S156I	ENSP00000271889:S156I	S	+	2	0	CREB3L4	152208479	0.014000	0.17966	0.067000	0.19924	0.979000	0.70002	0.234000	0.17930	0.196000	0.20367	-0.258000	0.10820	AGT		0.557	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1		NM_130898		35	45	1	0	1.62565e-12	1	1.69171e-12	35	45		
TRIM46	80128	broad.mit.edu	37	1	155145044	155145044	+	5'Flank	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:155145044C>T	ENST00000334634.4	+	0	0				TRIM46_ENST00000543729.1_5'Flank|KRTCAP2_ENST00000490672.1_5'UTR|TRIM46_ENST00000368385.4_5'Flank|RP11-201K10.3_ENST00000473363.2_Silent_p.L177L|TRIM46_ENST00000368382.1_5'Flank|TRIM46_ENST00000392451.2_5'Flank|KRTCAP2_ENST00000295682.4_Missense_Mutation_p.E100K|TRIM46_ENST00000545012.1_5'Flank|TRIM46_ENST00000368383.3_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTTACTCTCAGGGAAGATC	0.418																																						uc001fho.2		NaN																	0					0						c.(298-300)GAG>AAG		keratinocyte associated protein 2							101.0	101.0	101.0					1																	155145044		2203	4300	6503	SO:0001631	upstream_gene_variant	200185					integral to membrane		g.chr1:155145044C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145044C>T	Exception_encountered					RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Missense_Mutation_p.E100K|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank	p.E100K	NM_173852	NP_776251	Q8N6L1	KTAP2_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	324	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		100			Helical; (Potential).		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.298G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345640	0.95807	.	.	ENSG00000163463	ENST00000295682	T	0.52057	0.68	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.86502	2.82	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.71971	-0.4431	10	0.87932	D	0	.	13.7846	0.63102	0.0:1.0:0.0:0.0	.	100	Q8N6L1	KTAP2_HUMAN	K	100	ENSP00000295682:E100K	ENSP00000295682:E100K	E	-	1	0	KRTCAP2	153411668	1.000000	0.71417	0.980000	0.43619	0.976000	0.68499	7.172000	0.77604	2.708000	0.92522	0.467000	0.42956	GAG		0.418	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058		18	41	0	0	0	1	0	18	41		
ASH1L	55870	broad.mit.edu	37	1	155316194	155316194	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:155316194C>G	ENST00000368346.3	-	21	8524	c.7885G>C	c.(7885-7887)Gac>Cac	p.D2629H	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.D2624H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2629					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGCCTTGGGTCACACTGCTCA	0.478																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7885-7887)GAC>CAC		absent, small, or homeotic 1-like							207.0	175.0	186.0					1																	155316194		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155316194C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7885G>C	1.37:g.155316194C>G	ENSP00000357330:p.Asp2629His					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2624H|MIR555_hsa-mir-555|MI0003561_RNA	p.D2629H	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		21	8365	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2629			PHD-type.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7885G>C		.	.	.	.	.	.	.	.	.	.	C	18.94	3.730202	0.69074	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.84944	-1.92;-1.92	5.33	5.33	0.75918	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.141941	0.64402	D	0.000007	T	0.82231	0.4992	L	0.43152	1.355	0.80722	D	1	P;P	0.39311	0.667;0.616	P;P	0.49999	0.628;0.495	D	0.84095	0.0392	10	0.66056	D	0.02	.	12.1872	0.54245	0.0:0.9218:0.0:0.0782	.	2629;2624	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	2629;2624	ENSP00000357330:D2629H;ENSP00000376204:D2624H	ENSP00000357330:D2629H	D	-	1	0	ASH1L	153582818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.627000	0.61276	2.777000	0.95525	0.591000	0.81541	GAC		0.478	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		39	51	0	0	0	1	0	39	51		
LRRC52	440699	broad.mit.edu	37	1	165532806	165532806	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:165532806G>A	ENST00000294818.1	+	2	977	c.687G>A	c.(685-687)ggG>ggA	p.G229G	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	229	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCCGGGTGGGGAACCCACTCC	0.557																																						uc001gde.2		NaN																	0				ovary(1)	1						c.(685-687)GGG>GGA		leucine rich repeat containing 52 precursor							67.0	54.0	59.0					1																	165532806		2203	4300	6503	SO:0001819	synonymous_variant	440699					integral to membrane		g.chr1:165532806G>A	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.687G>A	1.37:g.165532806G>A						LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.G229G	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	743	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		229			Extracellular (Potential).|LRRCT.		A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	c.687G>A	CCDS30930.1																																																																																				0.557	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1		NM_001005214		13	26	0	0	0	1	0	13	26		
DUSP27	92235	broad.mit.edu	37	1	167095044	167095044	+	Missense_Mutation	SNP	G	G	A	rs144186156		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:167095044G>A	ENST00000361200.2	+	6	842	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E226K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E226K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	226	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGTCAGCAGCGAAATGGGCAT	0.478																																						uc001geb.1		NaN																	0				ovary(3)	3						c.(676-678)GAA>AAA		dual specificity phosphatase 27		G	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	80.0	68.0	72.0		676	5.6	0.6	1	dbSNP_134	72	0,8600		0,0,4300	yes	missense	DUSP27	NM_001080426.1	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	226/1159	167095044	2,13004	2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095044G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.676G>A	1.37:g.167095044G>A	ENSP00000354483:p.Glu226Lys						p.E226K	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	676	+			226			Tyrosine-protein phosphatase.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.676G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883424	0.91740	4.54E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.58210	0.35;0.35;0.35	5.55	5.55	0.83447	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.232886	0.44688	D	0.000422	T	0.48572	0.1507	N	0.13352	0.335	0.39672	D	0.970761	D	0.89917	1.0	D	0.69654	0.965	T	0.52449	-0.8574	10	0.37606	T	0.19	-23.4399	19.509	0.95133	0.0:0.0:1.0:0.0	.	226	Q5VZP5	DUS27_HUMAN	K	226	ENSP00000354483:E226K;ENSP00000271385:E226K;ENSP00000404874:E226K	ENSP00000271385:E226K	E	+	1	0	DUSP27	165361668	1.000000	0.71417	0.650000	0.29550	0.994000	0.84299	7.286000	0.78671	2.593000	0.87608	0.643000	0.83706	GAA		0.478	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1		NM_001080426		26	42	0	0	0	1	0	26	42		
FMO2	2327	broad.mit.edu	37	1	171174530	171174530	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:171174530G>A	ENST00000209929.7	+	7	1098	c.940G>A	c.(940-942)Gag>Aag	p.E314K	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.E314K|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	313					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCATCTTTGAGGATGGAAC	0.413																																						uc001ghk.1		NaN																	0				skin(1)	1						c.(940-942)GAG>AAG		flavin containing monooxygenase 2							95.0	91.0	92.0					1																	171174530		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174530G>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.940G>A	1.37:g.171174530G>A	ENSP00000209929:p.Glu314Lys					FMO2_uc010pmd.1_Missense_Mutation_p.E94K	p.E314K	NM_001460	NP_001451	Q99518	FMO2_HUMAN			7	1057	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		314					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.940G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879887	0.72294	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.58060	0.36;0.36	5.67	4.74	0.60224	.	0.097167	0.64402	D	0.000002	T	0.37265	0.0997	L	0.49513	1.565	0.48087	D	0.999582	B	0.18461	0.028	B	0.29524	0.103	T	0.40997	-0.9533	10	0.62326	D	0.03	-25.4404	14.7968	0.69884	0.0:0.0:0.8545:0.1455	.	314	Q99518	FMO2_HUMAN	K	314	ENSP00000209929:E314K;ENSP00000405905:E314K	ENSP00000209929:E314K	E	+	1	0	FMO2	169441154	1.000000	0.71417	0.976000	0.42696	0.727000	0.41649	6.476000	0.73587	1.348000	0.45733	0.655000	0.94253	GAG		0.413	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		NM_001460		25	32	0	0	0	1	0	25	32		
RC3H1	149041	broad.mit.edu	37	1	173953689	173953689	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:173953689C>T	ENST00000367696.2	-	3	651	c.300G>A	c.(298-300)aaG>aaA	p.K100K	RC3H1_ENST00000367694.2_Silent_p.K100K|RC3H1_ENST00000258349.4_Silent_p.K100K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	100					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CTACACATTTCTTGGCTTCCT	0.383																																						uc001gju.3		NaN																	0				ovary(2)	2						c.(298-300)AAG>AAA		roquin							125.0	104.0	111.0					1																	173953689		2203	4300	6503	SO:0001819	synonymous_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173953689C>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.300G>A	1.37:g.173953689C>T						RC3H1_uc010pms.1_Silent_p.K100K|RC3H1_uc001gjv.2_Silent_p.K100K|RC3H1_uc010pmt.1_Silent_p.K100K	p.K100K	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			2	387	-			100					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	c.300G>A	CCDS30940.1																																																																																				0.383	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071		12	16	0	0	0	1	0	12	16		
AXDND1	126859	broad.mit.edu	37	1	179478451	179478451	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:179478451C>G	ENST00000367618.3	+	21	2796	c.2409C>G	c.(2407-2409)atC>atG	p.I803M		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	803										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATGAATGGATCAACACATGCT	0.348																																						uc001gmo.2		NaN																	0					0						c.(2407-2409)ATC>ATG		hypothetical protein LOC126859 isoform 1							82.0	76.0	78.0					1																	179478451		2202	4300	6502	SO:0001583	missense	126859							g.chr1:179478451C>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2409C>G	1.37:g.179478451C>G	ENSP00000356590:p.Ile803Met					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_RNA	p.I803M	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			21	2536	+			803					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2409C>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160433	0.57368	.	.	ENSG00000162779	ENST00000367618;ENST00000359183	T	0.25250	1.81	4.65	3.73	0.42828	.	0.084403	0.48767	D	0.000171	T	0.33644	0.0870	L	0.47716	1.5	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	T	0.04294	-1.0962	10	0.87932	D	0	-12.4688	7.7684	0.28993	0.0:0.8913:0.0:0.1087	.	803	Q5T1B0	AXDN1_HUMAN	M	803;35	ENSP00000356590:I803M	ENSP00000352107:I35M	I	+	3	3	AXDND1	177745074	0.983000	0.35010	0.995000	0.50966	0.998000	0.95712	1.009000	0.29886	2.532000	0.85374	0.650000	0.86243	ATC		0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1		NM_144696		14	30	0	0	0	1	0	14	30		
CEP350	9857	broad.mit.edu	37	1	179993589	179993589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:179993589G>A	ENST00000367607.3	+	14	3840	c.3422G>A	c.(3421-3423)aGa>aAa	p.R1141K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1141	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATTCTAACAGAAAGTCTGCC	0.413																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(3421-3423)AGA>AAA		centrosome-associated protein 350							116.0	102.0	106.0					1																	179993589		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179993589G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3422G>A	1.37:g.179993589G>A	ENSP00000356579:p.Arg1141Lys					CEP350_uc009wxl.2_Missense_Mutation_p.R1140K|CEP350_uc001gnu.2_Missense_Mutation_p.R974K	p.R1141K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			14	3805	+			1141			Ser-rich.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3422G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987165	0.93106	.	.	ENSG00000135837	ENST00000367607	T	0.60299	0.2	5.8	5.8	0.92144	.	0.000000	0.50627	D	0.000104	T	0.65801	0.2726	L	0.32530	0.975	0.32686	N	0.51483	D;P	0.58268	0.982;0.944	D;P	0.67548	0.952;0.527	T	0.68625	-0.5359	9	.	.	.	.	16.7715	0.85538	0.0:0.0:1.0:0.0	.	1141;1141	E7EU22;Q5VT06	.;CE350_HUMAN	K	1141	ENSP00000356579:R1141K	.	R	+	2	0	CEP350	178260212	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.506000	0.60428	2.737000	0.93849	0.563000	0.77884	AGA		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		21	27	0	0	0	1	0	21	27		
PLEKHA6	22874	broad.mit.edu	37	1	204228552	204228552	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228552C>G	ENST00000272203.3	-	8	1157	c.841G>C	c.(841-843)Ggg>Cgg	p.G281R	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G301R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	281	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTGTGCTCCCTGGCCGGCTT	0.657																																						uc001hau.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(841-843)GGG>CGG		phosphoinositol 3-phosphate-binding protein-3							64.0	66.0	65.0					1																	204228552		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228552C>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.841G>C	1.37:g.204228552C>G	ENSP00000272203:p.Gly281Arg					PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.G281R	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1158	-	all_cancers(21;0.0222)|Breast(84;0.179)		281			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.841G>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226372	0.39300	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10763	2.84;3.31	5.31	3.45	0.39498	.	0.097214	0.45361	D	0.000374	T	0.11024	0.0269	L	0.60455	1.87	0.35002	D	0.756076	B	0.02656	0.0	B	0.06405	0.002	T	0.12760	-1.0535	10	0.15499	T	0.54	-30.5775	11.1129	0.48243	0.0:0.8485:0.0:0.1515	.	281	Q9Y2H5	PKHA6_HUMAN	R	281;301	ENSP00000272203:G281R;ENSP00000402046:G301R	ENSP00000272203:G281R	G	-	1	0	PLEKHA6	202495175	0.186000	0.23225	0.971000	0.41717	0.933000	0.57130	2.710000	0.47169	1.245000	0.43885	-0.215000	0.12644	GGG		0.657	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935		25	51	0	0	0	1	0	25	51		
PLEKHA6	22874	broad.mit.edu	37	1	204228723	204228723	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228723C>G	ENST00000272203.3	-	8	986	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E244Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	224	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTGGCCTCTCAGGCCTTCTC	0.652																																						uc001hau.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(670-672)GAG>CAG		phosphoinositol 3-phosphate-binding protein-3							69.0	69.0	69.0					1																	204228723		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228723C>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.670G>C	1.37:g.204228723C>G	ENSP00000272203:p.Glu224Gln					PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.E224Q	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	987	-	all_cancers(21;0.0222)|Breast(84;0.179)		224			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.670G>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887008	0.52014	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11495	2.77;3.24	5.13	5.13	0.70059	.	0.651748	0.16604	N	0.207220	T	0.31295	0.0792	M	0.62723	1.935	0.36805	D	0.885552	D	0.63880	0.993	D	0.70227	0.968	T	0.11131	-1.0600	10	0.59425	D	0.04	-31.0747	16.3616	0.83270	0.0:1.0:0.0:0.0	.	224	Q9Y2H5	PKHA6_HUMAN	Q	224;244	ENSP00000272203:E224Q;ENSP00000402046:E244Q	ENSP00000272203:E224Q	E	-	1	0	PLEKHA6	202495346	0.997000	0.39634	0.938000	0.37757	0.352000	0.29268	2.965000	0.49200	2.384000	0.81235	0.561000	0.74099	GAG		0.652	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935		19	56	0	0	0	1	0	19	56		
PLEKHA6	22874	broad.mit.edu	37	1	204228847	204228847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228847C>G	ENST00000272203.3	-	8	862	c.546G>C	c.(544-546)gaG>gaC	p.E182D	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E202D	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	182	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTGGGACGTTCTCCGAGTCTG	0.627																																						uc001hau.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(544-546)GAG>GAC		phosphoinositol 3-phosphate-binding protein-3							53.0	49.0	51.0					1																	204228847		2203	4299	6502	SO:0001583	missense	22874							g.chr1:204228847C>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.546G>C	1.37:g.204228847C>G	ENSP00000272203:p.Glu182Asp					PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.E182D	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	863	-	all_cancers(21;0.0222)|Breast(84;0.179)		182			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.546G>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108109	0.56291	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11712	2.75;3.26	5.68	3.82	0.43975	.	0.240354	0.42964	D	0.000635	T	0.24470	0.0593	L	0.60455	1.87	0.36226	D	0.852301	D	0.58268	0.982	D	0.67548	0.952	T	0.09143	-1.0688	10	0.38643	T	0.18	-30.808	10.1238	0.42637	0.0:0.7819:0.0:0.2181	.	182	Q9Y2H5	PKHA6_HUMAN	D	182;202	ENSP00000272203:E182D;ENSP00000402046:E202D	ENSP00000272203:E182D	E	-	3	2	PLEKHA6	202495470	0.993000	0.37304	0.999000	0.59377	0.846000	0.48090	0.201000	0.17276	0.752000	0.32923	0.655000	0.94253	GAG		0.627	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935		12	32	0	0	0	1	0	12	32		
SYT14	255928	broad.mit.edu	37	1	210334350	210334350	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:210334350A>T	ENST00000472886.1	+	8	1645	c.1631A>T	c.(1630-1632)cAg>cTg	p.Q544L	SYT14_ENST00000367015.1_Missense_Mutation_p.Q506L|SYT14_ENST00000534859.1_Missense_Mutation_p.Q570L|SYT14_ENST00000367019.1_Missense_Mutation_p.Q563L|SYT14_ENST00000537238.1_Missense_Mutation_p.Q506L|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.Q608L|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	544					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAAAAGGACAGCAAGTATGT	0.388																																						uc009xcv.2		NaN																	0				ovary(1)|skin(1)	2						c.(1630-1632)CAG>CTG		synaptotagmin XIV isoform 4							112.0	108.0	110.0					1																	210334350		2203	4299	6502	SO:0001583	missense	255928					integral to membrane		g.chr1:210334350A>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1631A>T	1.37:g.210334350A>T	ENSP00000418901:p.Gln544Leu					SYT14_uc001hhs.3_Missense_Mutation_p.Q608L|SYT14_uc001hht.3_Missense_Mutation_p.Q563L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.Q589L|SYT14_uc010pso.1_Missense_Mutation_p.Q506L|SYT14_uc010psp.1_Missense_Mutation_p.Q82L	p.Q544L	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1703	+			544			Cytoplasmic (Potential).		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1631A>T	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515251	0.64634	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.39	5.39	0.77823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	L	0.47716	1.5	0.80722	D	1	P;B;D;P	0.56968	0.613;0.353;0.978;0.544	B;B;P;B	0.53649	0.248;0.179;0.731;0.234	T	0.77661	-0.2504	10	0.66056	D	0.02	-6.8149	15.6891	0.77436	1.0:0.0:0.0:0.0	.	591;544;563;608	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	L	608;570;506;563;544;506	ENSP00000389039:Q608L;ENSP00000442891:Q570L;ENSP00000437423:Q506L;ENSP00000355986:Q563L;ENSP00000418901:Q544L;ENSP00000355982:Q506L	ENSP00000355982:Q506L	Q	+	2	0	SYT14	208400973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.871000	0.69628	2.157000	0.67596	0.477000	0.44152	CAG		0.388	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1		NM_153262		35	62	0	0	0	1	0	35	62		
KCNK2	3776	broad.mit.edu	37	1	215259819	215259819	+	Missense_Mutation	SNP	C	C	T	rs557780618		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:215259819C>T	ENST00000444842.2	+	2	305	c.155C>T	c.(154-156)aCg>aTg	p.T52M	KCNK2_ENST00000391894.2_Missense_Mutation_p.T37M|KCNK2_ENST00000391895.2_Missense_Mutation_p.T48M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	52					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GAGAGTGACACGACCATTAAT	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16501	0.0		0.0	False		,,,				2504	0.0					uc001hkq.2		NaN																	0					0						c.(154-156)ACG>ATG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						81.0	70.0	74.0					1																	215259819		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215259819C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.155C>T	1.37:g.215259819C>T	ENSP00000394033:p.Thr52Met					KCNK2_uc001hko.2_Missense_Mutation_p.T48M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.T37M	p.T52M	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	2	324	+			52			Cytoplasmic (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.155C>T	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831630	0.50845	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.21543	2.01;2.02;2.0	5.77	5.77	0.91146	.	0.158194	0.56097	D	0.000034	T	0.16727	0.0402	L	0.36672	1.1	0.26601	N	0.973025	P;B;P	0.41214	0.597;0.315;0.742	B;B;B	0.36989	0.238;0.12;0.238	T	0.22103	-1.0226	10	0.59425	D	0.04	.	10.406	0.44256	0.0:0.8553:0.0:0.1447	.	37;52;48	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	M	48;48;37;52	ENSP00000375765:T48M;ENSP00000375764:T37M;ENSP00000394033:T52M	ENSP00000355915:T48M	T	+	2	0	KCNK2	213326442	0.993000	0.37304	0.992000	0.48379	0.996000	0.88848	2.975000	0.49281	2.729000	0.93468	0.557000	0.71058	ACG		0.512	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2		NM_014217		15	32	0	0	0	1	0	15	32		
WDR26	80232	broad.mit.edu	37	1	224581534	224581534	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:224581534A>C	ENST00000414423.2	-	13	2149	c.1956T>G	c.(1954-1956)atT>atG	p.I652M	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.I505M	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	652						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TATTACCTTCAATATTCTGGT	0.388																																						uc001hop.3		NaN																	0					0						c.(1513-1515)ATT>ATG		WD repeat domain 26 isoform a							95.0	94.0	94.0					1																	224581534		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224581534A>C	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1956T>G	1.37:g.224581534A>C	ENSP00000408108:p.Ile652Met					WDR26_uc001hoq.3_Missense_Mutation_p.I489M|WDR26_uc010pvh.1_Missense_Mutation_p.I212M	p.I505M	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	13	1881	-			652					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.1515T>G	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.25|14.25	2.479063|2.479063	0.44044|0.44044	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.69435|.	-0.4;-0.13|.	5.99|5.99	2.46|2.46	0.29980|0.29980	.|.	0.208555|.	0.51477|.	D|.	0.000100|.	T|.	0.51329|.	0.1668|.	L|L	0.39085|0.39085	1.19|1.19	0.80722|0.80722	D|D	1|1	P|.	0.36048|.	0.534|.	B|.	0.33196|.	0.159|.	T|.	0.32025|.	-0.9922|.	10|.	0.72032|.	D|.	0.01|.	.|.	9.7299|9.7299	0.40355|0.40355	0.8125:0.0:0.1875:0.0|0.8125:0.0:0.1875:0.0	.|.	636|.	Q9H7D7-2|.	.|.	M|G	652;505|286	ENSP00000408108:I652M;ENSP00000295024:I505M|.	ENSP00000295024:I505M|.	I|X	-|-	3|1	3|0	WDR26|WDR26	222648157|222648157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.306000|1.306000	0.33505|0.33505	0.175000|0.175000	0.19841|0.19841	0.533000|0.533000	0.62120|0.62120	ATT|TGA		0.388	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2		NM_025160		25	41	0	0	0	1	0	25	41		
PCNXL2	80003	broad.mit.edu	37	1	233394514	233394514	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:233394514C>T	ENST00000258229.9	-	5	1328	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	365						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGTGGGTCTCCGGGTTGAGA	0.517																																						uc001hvl.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1093-1095)GGA>GAA		pecanex-like 2							89.0	90.0	89.0					1																	233394514		1968	4160	6128	SO:0001583	missense	80003					integral to membrane		g.chr1:233394514C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1094G>A	1.37:g.233394514C>T	ENSP00000258229:p.Gly365Glu					PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	p.G365E	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			5	1329	-		all_cancers(173;0.0347)|Prostate(94;0.137)	365					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1094G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777699	0.49786	.	.	ENSG00000135749	ENST00000258229	T	0.61742	0.08	4.73	4.73	0.59995	.	.	.	.	.	T	0.41627	0.1167	L	0.27053	0.805	0.80722	D	1	B	0.20887	0.049	B	0.17433	0.018	T	0.21586	-1.0241	9	0.16420	T	0.52	.	11.9238	0.52808	0.0:0.9161:0.0:0.0839	.	365	A6NKB5	PCX2_HUMAN	E	365	ENSP00000258229:G365E	ENSP00000258229:G365E	G	-	2	0	PCNXL2	231461137	0.994000	0.37717	0.482000	0.27366	0.155000	0.21991	2.323000	0.43823	2.601000	0.87937	0.655000	0.94253	GGA		0.517	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		30	65	0	0	0	1	0	30	65		
ZBTB18	10472	broad.mit.edu	37	1	244218534	244218534	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:244218534G>A	ENST00000358704.4	+	2	1607	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	477					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGTTCACGCAGTCCGGGGACC	0.587																																						uc001iae.2		NaN																	0				ovary(3)|pancreas(2)	5						c.(1429-1431)CAG>CAA		zinc finger protein 238 isoform 2							70.0	69.0	69.0					1																	244218534		2203	4300	6503	SO:0001819	synonymous_variant	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218534G>A	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1458G>A	1.37:g.244218534G>A						ZNF238_uc001iad.3_Silent_p.Q486Q|ZNF238_uc001iaf.1_3'UTR	p.Q477Q	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1953	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		477			C2H2-type 4.		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	c.1431G>A	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	2.441	-0.328558	0.05314	.	.	ENSG00000179456	ENST00000366538	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.79557	0.4466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81057	-0.1105	5	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	.	.	.	I	475	.	ENSP00000355496:V475I	V	+	1	0	ZNF238	242285157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.741000	0.68638	2.749000	0.94314	0.655000	0.94253	GTC		0.587	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2		NM_205768		14	42	0	0	0	1	0	14	42		
AHCTF1	25909	broad.mit.edu	37	1	247024465	247024465	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:247024465C>T	ENST00000391829.2	-	29	3991	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E1325K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1299K|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1290	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCATCCATTTCTTGATGCTCC	0.423																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NaN																	0				ovary(5)|skin(2)	7						c.(3868-3870)GAA>AAA		transcription factor ELYS							83.0	73.0	77.0					1																	247024465		2203	4299	6502	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024465C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3868G>A	1.37:g.247024465C>T	ENSP00000375705:p.Glu1290Lys					AHCTF1_uc001ibv.1_Missense_Mutation_p.E1299K|AHCTF1_uc009xgs.1_Missense_Mutation_p.E151K|AHCTF1_uc001ibw.1_RNA	p.E1290K	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		28	3875	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1290			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3868G>A		.	.	.	.	.	.	.	.	.	.	c	8.090	0.774305	0.16051	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34275	1.37;1.37;1.37	5.84	2.86	0.33363	.	0.259361	0.33496	N	0.004843	T	0.32615	0.0835	M	0.66939	2.045	0.09310	N	1	B;B;B	0.20887	0.043;0.021;0.049	B;B;B	0.21917	0.017;0.037;0.014	T	0.23797	-1.0178	10	0.23891	T	0.37	-5.3192	7.9883	0.30224	0.0:0.7353:0.0:0.2647	.	151;1325;1290	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	K	1325;1299;1290	ENSP00000355464:E1325K;ENSP00000355465:E1299K;ENSP00000375705:E1290K	ENSP00000355465:E1299K	E	-	1	0	AHCTF1	245091088	0.999000	0.42202	0.001000	0.08648	0.025000	0.11179	1.250000	0.32850	0.418000	0.25898	0.645000	0.84053	GAA		0.423	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015446		15	30	0	0	0	1	0	15	30		
NLRP3	114548	broad.mit.edu	37	1	247588651	247588651	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:247588651G>A	ENST00000336119.3	+	3	2652	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.E636K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E636K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E636K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E636K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E636K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	636					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGTTTGTACGAGATGCAGGA	0.478																																						uc001icr.2		NaN																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1906-1908)GAG>AAG		NLR family, pyrin domain containing 3 isoform a							69.0	63.0	65.0					1																	247588651		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588651G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1906G>A	1.37:g.247588651G>A	ENSP00000337383:p.Glu636Lys					NLRP3_uc001ics.2_Missense_Mutation_p.E636K|NLRP3_uc001icu.2_Missense_Mutation_p.E636K|NLRP3_uc001icw.2_Missense_Mutation_p.E636K|NLRP3_uc001icv.2_Missense_Mutation_p.E636K|NLRP3_uc010pyw.1_Missense_Mutation_p.E634K|NLRP3_uc001ict.1_Missense_Mutation_p.E634K	p.E636K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2044	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	636					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1906G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580988	0.86748	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	3.96	3.96	0.45880	.	0.000000	0.52532	D	0.000070	D	0.94729	0.8299	M	0.90082	3.085	0.48087	D	0.999586	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.998;0.863;0.998;1.0;0.953	D	0.94997	0.8139	10	0.87932	D	0	.	11.8198	0.52232	0.0:0.0:1.0:0.0	.	636;636;636;636;636	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	636	ENSP00000375704:E636K;ENSP00000355453:E636K;ENSP00000337383:E636K;ENSP00000294752:E636K;ENSP00000355452:E636K;ENSP00000375703:E636K	ENSP00000337383:E636K	E	+	1	0	NLRP3	245655274	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	7.511000	0.81718	2.502000	0.84385	0.655000	0.94253	GAG		0.478	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		NM_004895		20	30	0	0	0	1	0	20	30		
KLF6	1316	broad.mit.edu	37	10	3824148	3824148	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:3824148G>A	ENST00000497571.1	-	2	621	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	KLF6_ENST00000542957.1_Missense_Mutation_p.P121S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Missense_Mutation_p.P121S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	121					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTGGCCGTGGGAGAAAGTTCC	0.532											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.2		NaN																	0				central_nervous_system(3)|lung(1)	4						c.(361-363)CCC>TCC		Kruppel-like factor 6 isoform A							134.0	142.0	139.0					10																	3824148		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824148G>A	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.361C>T	10.37:g.3824148G>A	ENSP00000419923:p.Pro121Ser		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.1_Missense_Mutation_p.P121S|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.P121S|KLF6_uc001ihb.2_Missense_Mutation_p.P121S	p.P121S	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	628	-			121					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.361C>T	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279331	0.59758	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.56103	3.26;0.48;0.67	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.996	P;D;D;P	0.91635	0.727;0.999;0.999;0.802	T	0.64740	-0.6336	10	0.37606	T	0.19	.	17.2727	0.87106	0.0:0.0:1.0:0.0	.	121;121;121;121	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	S	121	ENSP00000419923:P121S;ENSP00000445301:P121S;ENSP00000419079:P121S	ENSP00000419079:P121S	P	-	1	0	KLF6	3814148	1.000000	0.71417	0.965000	0.40720	0.756000	0.42949	6.673000	0.74482	2.309000	0.77851	0.561000	0.74099	CCC		0.532	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1				45	93	0	0	0	1	0	45	93		
ATP5C1	509	broad.mit.edu	37	10	7844317	7844317	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:7844317C>T	ENST00000356708.7	+	7	801	c.722C>T	c.(721-723)tCt>tTt	p.S241F	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.S194F|ATP5C1_ENST00000335698.4_Missense_Mutation_p.S241F	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	241					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCTACTACTCTCTGAAGGAG	0.448																																					Melanoma(143;1012 1820 16249 30920 33158)	uc001iju.2		NaN																	0					0						c.(721-723)TCT>TTT		ATP synthase, H+ transporting, mitochondrial F1							121.0	100.0	107.0					10																	7844317		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7844317C>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.722C>T	10.37:g.7844317C>T	ENSP00000349142:p.Ser241Phe					ATP5C1_uc009xiq.1_Missense_Mutation_p.S241F|ATP5C1_uc010qbc.1_Missense_Mutation_p.S192F|ATP5C1_uc001ijv.2_Missense_Mutation_p.S241F	p.S241F	NM_001001973	NP_001001973	P36542	ATPG_HUMAN			7	800	+			241					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.722C>T	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684841	0.88639	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.5	5.5	0.81552	ATPase, F1 complex, gamma subunit domain (1);	0.224065	0.46442	D	0.000296	T	0.73233	0.3561	M	0.78049	2.395	0.46356	D	0.999007	P	0.47545	0.897	P	0.48840	0.592	T	0.77419	-0.2595	9	0.87932	D	0	-13.5539	19.3767	0.94512	0.0:1.0:0.0:0.0	.	241	P36542	ATPG_HUMAN	F	241;241;194	.	ENSP00000338568:S241F	S	+	2	0	ATP5C1	7884323	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	4.383000	0.59600	2.735000	0.93741	0.655000	0.94253	TCT		0.448	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1		NM_005174		14	40	0	0	0	1	0	14	40		
PRPF18	8559	broad.mit.edu	37	10	13652044	13652044	+	Missense_Mutation	SNP	G	G	C	rs202029846		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:13652044G>C	ENST00000378572.3	+	5	529	c.369G>C	c.(367-369)ttG>ttC	p.L123F		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	123					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CTTAGGGATTGAGGAATGATT	0.383																																						uc001imp.2		NaN																	0				central_nervous_system(1)	1						c.(367-369)TTG>TTC		PRP18 pre-mRNA processing factor 18 homolog							136.0	140.0	139.0					10																	13652044		2203	4300	6503	SO:0001583	missense	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13652044G>C	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.369G>C	10.37:g.13652044G>C	ENSP00000367835:p.Leu123Phe					PRPF18_uc001imq.2_Intron	p.L123F	NM_003675	NP_003666	Q99633	PRP18_HUMAN			5	517	+			123					Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	37	c.369G>C	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	G	0.520	-0.862693	0.02610	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	5.8	1.85	0.25348	Splicing factor motif (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.35341	1.055	0.58432	D	0.999998	B	0.12630	0.006	B	0.16289	0.015	T	0.12682	-1.0538	9	0.07990	T	0.79	-13.2322	8.9701	0.35901	0.3532:0.0:0.6468:0.0	.	123	Q99633	PRP18_HUMAN	F	123;117;108;117	.	ENSP00000367824:L108F	L	+	3	2	PRPF18	13692050	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	3.004000	0.49513	0.368000	0.24481	-0.145000	0.13849	TTG		0.383	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1				23	62	0	0	0	1	0	23	62		
THNSL1	79896	broad.mit.edu	37	10	25312422	25312422	+	Silent	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:25312422C>A	ENST00000524413.1	+	3	617	c.270C>A	c.(268-270)atC>atA	p.I90I	THNSL1_ENST00000376356.4_Silent_p.I90I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	90						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	ATGATGATATCCTTGAAAAAA	0.383																																						uc001isi.3		NaN																	0				pancreas(1)	1						c.(268-270)ATC>ATA		threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						123.0	121.0	122.0					10																	25312422		2203	4300	6503	SO:0001819	synonymous_variant	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312422C>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.270C>A	10.37:g.25312422C>A						ENKUR_uc001ish.1_Intron	p.I90I	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			3	599	+			90					B3KWL1|D3DRV3|Q5VV21	Silent	SNP	ENST00000524413.1	37	c.270C>A	CCDS7147.1																																																																																				0.383	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1		NM_024838		38	73	1	0	1.06647e-15	1	1.11771e-15	38	73		
GPR158	57512	broad.mit.edu	37	10	25464862	25464862	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:25464862C>G	ENST00000376351.3	+	1	872	c.513C>G	c.(511-513)atC>atG	p.I171M	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	171					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGCCCAGCATCTCCCGGGCGG	0.647																																						uc001isj.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(511-513)ATC>ATG		G protein-coupled receptor 158 precursor							59.0	55.0	56.0					10																	25464862		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464862C>G	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.513C>G	10.37:g.25464862C>G	ENSP00000365529:p.Ile171Met					LOC100128811_uc010qde.1_Missense_Mutation_p.E30D	p.I171M	NM_020752	NP_065803	Q5T848	GP158_HUMAN			1	573	+			171			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.513C>G	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358486	0.61403	.	.	ENSG00000151025	ENST00000376351	T	0.76186	-1.0	4.98	4.05	0.47172	.	0.414520	0.23365	N	0.048970	D	0.82407	0.5030	M	0.73217	2.22	0.58432	D	0.999993	D	0.76494	0.999	D	0.74674	0.984	T	0.82408	-0.0472	10	0.66056	D	0.02	.	7.8034	0.29187	0.1582:0.757:0.0:0.0848	.	171	Q5T848	GP158_HUMAN	M	171	ENSP00000365529:I171M	ENSP00000365529:I171M	I	+	3	3	GPR158	25504868	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.665000	0.25083	1.265000	0.44215	0.591000	0.81541	ATC		0.647	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2		XM_166110		18	36	0	0	0	1	0	18	36		
ABI1	10006	broad.mit.edu	37	10	27048155	27048155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:27048155G>A	ENST00000376142.2	-	9	985	c.914C>T	c.(913-915)tCa>tTa	p.S305L	ABI1_ENST00000376170.4_Missense_Mutation_p.S277L|ABI1_ENST00000376134.3_Missense_Mutation_p.S279L|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376166.1_Missense_Mutation_p.S272L|ABI1_ENST00000355394.4_Missense_Mutation_p.S306L|ABI1_ENST00000376160.1_Missense_Mutation_p.S272L|ABI1_ENST00000359188.4_Missense_Mutation_p.S277L|ABI1_ENST00000346832.5_Missense_Mutation_p.S322L|ABI1_ENST00000376140.3_Missense_Mutation_p.S278L|ABI1_ENST00000376139.2_Missense_Mutation_p.S273L|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376138.3_Missense_Mutation_p.S278L	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	305	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGAGCTGAGCCCGGGGC	0.498																																						uc001isx.2		NaN																	0				central_nervous_system(1)	1						c.(913-915)TCA>TTA		abl-interactor 1 isoform a							92.0	88.0	89.0					10																	27048155		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27048155G>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.914C>T	10.37:g.27048155G>A	ENSP00000365312:p.Ser305Leu					ABI1_uc001ite.2_Missense_Mutation_p.S272L|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S278L|ABI1_uc001ita.2_Missense_Mutation_p.S278L|ABI1_uc001isz.2_Missense_Mutation_p.S273L|ABI1_uc001itb.2_Missense_Mutation_p.S322L|ABI1_uc001itc.2_Missense_Mutation_p.S277L|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S277L|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S144L	p.S305L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			9	1081	-			305			Pro-rich.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.914C>T	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.270045	0.59540	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T	0.44482	1.14;1.18;1.16;1.14;1.08;1.14;1.03;1.18;1.23;0.92;1.0	5.67	5.67	0.87782	.	0.173685	0.52532	D	0.000066	T	0.24967	0.0606	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.28820	0.224;0.031;0.094;0.0;0.087;0.0;0.0;0.014;0.077	B;B;B;B;B;B;B;B;B	0.26094	0.034;0.034;0.031;0.001;0.066;0.0;0.001;0.014;0.017	T	0.09662	-1.0664	10	0.31617	T	0.26	-2.8789	19.774	0.96385	0.0:0.0:1.0:0.0	.	144;272;302;277;322;278;273;278;305	B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;ABI1_HUMAN	L	278;277;272;272;305;277;273;306;322;279;278	ENSP00000365308:S278L;ENSP00000365340:S277L;ENSP00000365336:S272L;ENSP00000365330:S272L;ENSP00000365312:S305L;ENSP00000352114:S277L;ENSP00000365309:S273L;ENSP00000347555:S306L;ENSP00000279599:S322L;ENSP00000365304:S279L;ENSP00000365310:S278L	ENSP00000279599:S322L	S	-	2	0	ABI1	27088161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.845000	0.99498	2.679000	0.91253	0.591000	0.81541	TCA		0.498	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1		NM_005470		14	47	0	0	0	1	0	14	47		
KIAA1462	57608	broad.mit.edu	37	10	30316005	30316005	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:30316005A>G	ENST00000375377.1	-	3	3173	c.3072T>C	c.(3070-3072)agT>agC	p.S1024S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1024					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTCTCCACCACTGTCAAACT	0.582																																						uc001iux.2		NaN																	0				ovary(4)	4						c.(3070-3072)AGT>AGC		hypothetical protein LOC57608							94.0	93.0	93.0					10																	30316005		1880	4103	5983	SO:0001819	synonymous_variant	57608							g.chr10:30316005A>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3072T>C	10.37:g.30316005A>G						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.S886S|KIAA1462_uc009xle.1_Silent_p.S1024S	p.S1024S	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3131	-			1024					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.3072T>C	CCDS41500.1																																																																																				0.582	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		NM_020848		54	80	0	0	0	1	0	54	80		
HK1	3098	broad.mit.edu	37	10	71119661	71119661	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:71119661G>A	ENST00000359426.6	+	3	339	c.235G>A	c.(235-237)Gat>Aat	p.D79N	HK1_ENST00000404387.2_Missense_Mutation_p.D83N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Missense_Mutation_p.D114N|HK1_ENST00000360289.2_Missense_Mutation_p.D67N|HK1_ENST00000298649.3_Missense_Mutation_p.D78N	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	79	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AGAAAAGGGAGATTTCATTGC	0.483																																						uc001jpl.3		NaN																	0				ovary(1)	1						c.(235-237)GAT>AAT		hexokinase 1 isoform HKI							148.0	130.0	136.0					10																	71119661		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71119661G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.235G>A	10.37:g.71119661G>A	ENSP00000352398:p.Asp79Asn					HK1_uc001jpg.3_Missense_Mutation_p.D67N|HK1_uc001jph.3_Missense_Mutation_p.D83N|HK1_uc001jpi.3_Missense_Mutation_p.D83N|HK1_uc001jpj.3_Missense_Mutation_p.D114N|HK1_uc001jpk.3_Missense_Mutation_p.D78N|HK1_uc009xqd.2_Intron	p.D79N	NM_000188	NP_000179	P19367	HXK1_HUMAN			3	336	+			79			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.235G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483766	0.96307	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.51	5.51	0.81932	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.67517	2.055	0.80722	D	1	B;B;P;P;B	0.45474	0.045;0.09;0.859;0.657;0.249	B;B;P;P;B	0.55222	0.075;0.253;0.771;0.661;0.054	D	0.98619	1.0666	10	0.44086	T	0.13	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	79;78;114;83;67	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	N	83;67;114;67;83;78;78;79;79	ENSP00000409761:D83N;ENSP00000353433:D67N;ENSP00000402103:D114N;ENSP00000398316:D67N;ENSP00000384774:D83N;ENSP00000415949:D78N;ENSP00000298649:D78N;ENSP00000352398:D79N	ENSP00000298649:D78N	D	+	1	0	HK1	70789667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.371000	0.97162	2.586000	0.87340	0.561000	0.74099	GAT		0.483	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		NM_000188		32	53	0	0	0	1	0	32	53		
NPFFR1	64106	broad.mit.edu	37	10	72026099	72026099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:72026099C>T	ENST00000277942.6	-	2	55	c.56G>A	c.(55-57)gGg>gAg	p.G19E		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	19					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						AGTGTTAGTCCCATTCTGACT	0.552																																						uc010qjk.1		NaN																	0					0						c.(49-51)GGG>GAG		neuropeptide FF receptor 1							76.0	77.0	76.0					10																	72026099		2011	4166	6177	SO:0001583	missense	64106					integral to membrane|plasma membrane	neuropeptide receptor activity	g.chr10:72026099C>T	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.56G>A	10.37:g.72026099C>T	ENSP00000277942:p.Gly19Glu						p.G17E	NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN			1	56	-			19			Extracellular (Potential).		A2RRF0|Q8NGR0|Q96RN3	Missense_Mutation	SNP	ENST00000277942.6	37	c.50G>A	CCDS53539.1	.	.	.	.	.	.	.	.	.	.	C	8.955	0.969096	0.18659	.	.	ENSG00000148734	ENST00000449957;ENST00000277942	T;T	0.37411	1.2;1.2	5.04	0.371	0.16168	.	0.887821	0.09539	U	0.788502	T	0.20333	0.0489	N	0.25647	0.755	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.32161	-0.9917	10	0.09843	T	0.71	.	6.2342	0.20754	0.1274:0.54:0.0:0.3326	.	19	Q9GZQ6	NPFF1_HUMAN	E	17;19	ENSP00000401171:G17E;ENSP00000277942:G19E	ENSP00000277942:G19E	G	-	2	0	NPFFR1	71696105	0.000000	0.05858	0.147000	0.22382	0.713000	0.41058	-1.241000	0.02911	0.158000	0.19367	0.313000	0.20887	GGG		0.552	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2		NM_022146		5	21	0	0	0	1	0	5	21		
CDH23	64072	broad.mit.edu	37	10	73553278	73553278	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:73553278C>A	ENST00000224721.6	+	47	6613	c.6608C>A	c.(6607-6609)gCc>gAc	p.A2203D	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2198	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 8; BAB61902). {ECO:0000305}.	calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AATATCACGGCCATTGACCAC	0.572																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(6592-6594)GCC>GAC		cadherin-like 23 isoform 1 precursor							67.0	75.0	72.0					10																	73553278		2182	4276	6458	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73553278C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6608C>A	10.37:g.73553278C>A	ENSP00000224721:p.Ala2203Asp					CDH23_uc001jsg.3_5'Flank|CDH23_uc001jsh.3_5'Flank	p.A2198D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			46	6970	+			2198	EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).		Cadherin 21.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.6593C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.126343	0.77549	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88288	0.2941	9	0.87932	D	0	.	18.4168	0.90572	0.0:1.0:0.0:0.0	.	2198	Q9H251	CAD23_HUMAN	D	2203;2198;2201	.	ENSP00000224721:A2203D	A	+	2	0	CDH23	73223284	1.000000	0.71417	0.980000	0.43619	0.516000	0.34256	7.786000	0.85741	2.346000	0.79739	0.650000	0.86243	GCC		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836		23	23	1	0	2.89027e-11	1	2.99713e-11	23	23		
OIT3	170392	broad.mit.edu	37	10	74684374	74684374	+	Missense_Mutation	SNP	G	G	A	rs139078371		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:74684374G>A	ENST00000334011.5	+	7	1557	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	447	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GATCGACGAGGTCCTGAAATA	0.552																																					Colon(7;19 345 13446 17537)	uc001jte.1		NaN																	0				ovary(2)	2						c.(1339-1341)GTC>ATC		oncoprotein-induced transcript 3 precursor		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	60.0	52.0	55.0		1339	3.3	1.0	10	dbSNP_134	55	0,8600		0,0,4300	no	missense	OIT3	NM_152635.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	447/546	74684374	1,13005	2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74684374G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1339G>A	10.37:g.74684374G>A	ENSP00000333900:p.Val447Ile					OIT3_uc009xqs.1_Intron	p.V447I	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			7	1557	+	Prostate(51;0.0198)		447			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.1339G>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	9.484	1.098935	0.20552	2.27E-4	0.0	ENSG00000138315	ENST00000334011	D	0.82344	-1.6	5.59	3.29	0.37713	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.100063	0.41938	N	0.000794	T	0.49729	0.1574	N	0.00347	-1.61	0.23293	N	0.997965	B	0.02656	0.0	B	0.04013	0.001	T	0.48375	-0.9041	10	0.23302	T	0.38	-18.3649	8.4443	0.32833	0.7726:0.0:0.2274:0.0	.	447	Q8WWZ8	OIT3_HUMAN	I	447	ENSP00000333900:V447I	ENSP00000333900:V447I	V	+	1	0	OIT3	74354380	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.199000	0.51043	0.422000	0.26005	-0.471000	0.05019	GTC		0.552	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1		NM_152635		14	34	0	0	0	1	0	14	34		
ECD	11319	broad.mit.edu	37	10	74899248	74899248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:74899248G>A	ENST00000372979.4	-	11	1446	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ECD_ENST00000454759.2_Nonsense_Mutation_p.Q371*|ECD_ENST00000430082.2_Nonsense_Mutation_p.Q447*	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	414					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCTAACCACTGGTCATCTGAA	0.428																																						uc001jtn.2		NaN																	0				pancreas(1)	1						c.(1240-1242)CAG>TAG		suppressor of S. cerevisiae gcr2 isoform 1							82.0	86.0	85.0					10																	74899248		2203	4300	6503	SO:0001587	stop_gained	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74899248G>A	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1240C>T	10.37:g.74899248G>A	ENSP00000362070:p.Gln414*					ECD_uc009xqx.2_Nonsense_Mutation_p.Q447*|ECD_uc009xqy.2_Nonsense_Mutation_p.Q371*|ECD_uc001jto.2_Nonsense_Mutation_p.Q113*	p.Q414*	NM_007265	NP_009196	O95905	SGT1_HUMAN			11	1483	-	Prostate(51;0.0119)		414					C9JX46|E9PAW8	Nonsense_Mutation	SNP	ENST00000372979.4	37	c.1240C>T	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648949	0.96714	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	.	.	.	5.2	1.01	0.19927	.	0.768607	0.12691	N	0.447164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-5.6448	7.4498	0.27231	0.0811:0.0:0.3518:0.5671	.	.	.	.	X	414;447;371	.	ENSP00000362070:Q414X	Q	-	1	0	ECD	74569254	0.705000	0.27846	0.755000	0.31263	0.981000	0.71138	1.111000	0.31159	-0.075000	0.12798	0.467000	0.42956	CAG		0.428	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1		NM_007265		37	72	0	0	0	1	0	37	72		
LRIT2	340745	broad.mit.edu	37	10	85984111	85984111	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:85984111C>T	ENST00000372113.4	-	2	875	c.870G>A	c.(868-870)ctG>ctA	p.L290L	LRIT2_ENST00000538192.1_Silent_p.L290L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	290	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCCACATACTCAGGGGATAAG	0.527																																						uc001kcy.2		NaN																	0				ovary(2)	2						c.(868-870)CTG>CTA		leucine rich repeat containing 22 precursor							79.0	62.0	68.0					10																	85984111		2203	4300	6503	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85984111C>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.870G>A	10.37:g.85984111C>T						LRIT2_uc010qmc.1_Silent_p.L290L	p.L290L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			2	878	-			290			Ig-like.		B7ZME6	Silent	SNP	ENST00000372113.4	37	c.870G>A	CCDS31234.1																																																																																				0.527	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4		XM_291697		24	21	0	0	0	1	0	24	21		
PLCE1	51196	broad.mit.edu	37	10	96012152	96012152	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:96012152C>G	ENST00000371380.3	+	8	3411	c.3176C>G	c.(3175-3177)cCc>cGc	p.P1059R	PLCE1_ENST00000371385.3_Missense_Mutation_p.P751R|PLCE1_ENST00000260766.3_Missense_Mutation_p.P1059R|PLCE1_ENST00000371375.1_Missense_Mutation_p.P751R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1059					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCGAAACCCCAGCCCCGGA	0.507																																						uc001kjk.2		NaN																	0				ovary(2)|skin(1)	3						c.(3175-3177)CCC>CGC		phospholipase C, epsilon 1 isoform 1							106.0	106.0	106.0					10																	96012152		2015	4177	6192	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96012152C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3176C>G	10.37:g.96012152C>G	ENSP00000360431:p.Pro1059Arg					PLCE1_uc010qnx.1_Missense_Mutation_p.P1059R|PLCE1_uc001kjm.2_Missense_Mutation_p.P751R	p.P1059R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			9	3810	+		Colorectal(252;0.0458)	1059					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3176C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113373	0.56398	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.87	5.87	0.94306	.	0.112768	0.40728	N	0.001038	T	0.25865	0.0630	N	0.22421	0.69	0.44711	D	0.997707	P;P;P	0.40000	0.514;0.646;0.698	B;B;B	0.37943	0.199;0.261;0.26	T	0.01608	-1.1313	10	0.35671	T	0.21	.	20.2084	0.98285	0.0:1.0:0.0:0.0	.	1059;751;1059	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	R	1059;1059;751;751	ENSP00000260766:P1059R;ENSP00000360431:P1059R;ENSP00000360438:P751R;ENSP00000360426:P751R	ENSP00000260766:P1059R	P	+	2	0	PLCE1	96002142	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	3.505000	0.53356	2.774000	0.95407	0.650000	0.86243	CCC		0.507	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		NM_016341		14	44	0	0	0	1	0	14	44		
TLX1	3195	broad.mit.edu	37	10	102894051	102894051	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:102894051G>A	ENST00000370196.6	+	2	2730	c.688G>A	c.(688-690)Gag>Aag	p.E230K	TLX1_ENST00000467928.2_Missense_Mutation_p.E230K|RP11-31L23.3_ENST00000411459.1_RNA			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	230					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGCCTCGGCCGAGCGCGCCGC	0.652			T	"""TRB@, TRD@"""	T-ALL																																	uc001ksw.2		NaN		Dom	yes		10	10q24	3195	T	""" T-cell leukemia, homeobox 1 (HOX11)"""			L	TRB@|TRD@		T-ALL		0				breast(1)	1						c.(688-690)GAG>AAG		T-cell leukemia homeobox 1							27.0	28.0	28.0					10																	102894051		2200	4299	6499	SO:0001583	missense	3195					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:102894051G>A	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"""Homeoboxes / ANTP class : NKL subclass"""	5056	protein-coding gene	gene with protein product	"""Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"""	186770	"""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"", ""T-cell leukemia, homeobox 1"""	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.688G>A	10.37:g.102894051G>A	ENSP00000359215:p.Glu230Lys						p.E230K	NM_005521	NP_005512	P31314	TLX1_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	2	926	+			230			Homeobox.		A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Missense_Mutation	SNP	ENST00000370196.6	37	c.688G>A	CCDS7510.1	.	.	.	.	.	.	.	.	.	.	G	36	5.828414	0.96996	.	.	ENSG00000107807	ENST00000370196;ENST00000467928	D;D	0.96300	-3.94;-3.97	6.04	5.12	0.69794	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98048	1.0386	10	0.54805	T	0.06	.	16.4911	0.84201	0.0:0.0:0.8679:0.1321	.	230	P31314	TLX1_HUMAN	K	230	ENSP00000359215:E230K;ENSP00000434914:E230K	ENSP00000359215:E230K	E	+	1	0	TLX1	102884041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.523000	0.49018	0.561000	0.74099	GAG		0.652	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3		NM_005521		10	9	0	0	0	1	0	10	9		
LDB1	8861	broad.mit.edu	37	10	103868831	103868831	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:103868831C>T	ENST00000425280.1	-	10	1302	c.960G>A	c.(958-960)aaG>aaA	p.K320K	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Silent_p.K284K	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	320					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGCTCTTCTTCTTGCTGTTGC	0.592																																						uc009xwz.2		NaN																	0				large_intestine(1)	1						c.(958-960)AAG>AAA		LIM domain binding 1 isoform 1							182.0	150.0	161.0					10																	103868831		2203	4300	6503	SO:0001819	synonymous_variant	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103868831C>T	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.960G>A	10.37:g.103868831C>T						LDB1_uc001kuk.3_Silent_p.K284K|LDB1_uc001kul.3_Silent_p.K284K	p.K320K	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	10	1303	-		Colorectal(252;0.122)	320					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Silent	SNP	ENST00000425280.1	37	c.960G>A	CCDS44472.1																																																																																				0.592	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113407		22	37	0	0	0	1	0	22	37		
LDB1	8861	broad.mit.edu	37	10	103869736	103869736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:103869736C>T	ENST00000425280.1	-	7	932	c.590G>A	c.(589-591)tGg>tAg	p.W197*	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Nonsense_Mutation_p.W161*	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	197					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GCTGAAGTGCCACGTCTTTAT	0.602																																						uc009xwz.2		NaN																	0				large_intestine(1)	1						c.(589-591)TGG>TAG		LIM domain binding 1 isoform 1							145.0	117.0	127.0					10																	103869736		2203	4300	6503	SO:0001587	stop_gained	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103869736C>T	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.590G>A	10.37:g.103869736C>T	ENSP00000392466:p.Trp197*					LDB1_uc001kuk.3_Nonsense_Mutation_p.W161*|LDB1_uc001kul.3_Nonsense_Mutation_p.W161*	p.W197*	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	7	933	-		Colorectal(252;0.122)	197					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Nonsense_Mutation	SNP	ENST00000425280.1	37	c.590G>A	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	38	7.207746	0.98136	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.3	4.36	0.52297	.	0.164596	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5827	13.0936	0.59178	0.0:0.9195:0.0:0.0805	.	.	.	.	X	161;197	.	ENSP00000354616:W161X	W	-	2	0	LDB1	103859726	1.000000	0.71417	0.957000	0.39632	0.981000	0.71138	7.818000	0.86416	1.169000	0.42739	0.462000	0.41574	TGG		0.602	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113407		18	38	0	0	0	1	0	18	38		
ABLIM1	3983	broad.mit.edu	37	10	116307492	116307492	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:116307492C>T	ENST00000277895.5	-	5	814	c.717G>A	c.(715-717)ctG>ctA	p.L239L	ABLIM1_ENST00000533213.2_Silent_p.L179L|ABLIM1_ENST00000369252.4_Silent_p.L179L	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	239	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAGCGCCAGCAGCGCCTGCC	0.552																																						uc010qsg.1		NaN																	0				breast(1)	1						c.(715-717)CTG>CTA		actin-binding LIM protein 1 isoform a							52.0	47.0	49.0					10																	116307492		2203	4300	6503	SO:0001819	synonymous_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116307492C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.717G>A	10.37:g.116307492C>T						ABLIM1_uc010qsh.1_Silent_p.L179L|ABLIM1_uc010qsi.1_Silent_p.L179L|ABLIM1_uc010qsk.1_Silent_p.L163L|ABLIM1_uc009xyp.2_Silent_p.L173L|ABLIM1_uc009xyo.2_Silent_p.L87L	p.L239L	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	5	816	-		Colorectal(252;0.0373)|Breast(234;0.231)	239			LIM zinc-binding 3.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	c.717G>A	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274981	0.23307	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.53	3.64	0.41730	.	.	.	.	.	T	0.61185	0.2327	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56733	-0.7930	4	.	.	.	.	10.3899	0.44162	0.0:0.6761:0.2552:0.0687	.	.	.	.	Y	148	.	.	C	-	2	0	ABLIM1	116297482	0.988000	0.35896	0.990000	0.47175	0.944000	0.59088	0.216000	0.17585	0.683000	0.31428	0.561000	0.74099	TGC		0.552	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3				12	19	0	0	0	1	0	12	19		
WDR11	55717	broad.mit.edu	37	10	122637962	122637962	+	Missense_Mutation	SNP	C	C	T	rs112914841		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:122637962C>T	ENST00000263461.6	+	12	1900	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	RP11-95I16.4_ENST00000605549.1_RNA	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACTGGTTGATCTTCCAACAGG	0.333																																						uc010qtf.1		NaN																	0					0						c.(1654-1656)CTT>TTT		bromodomain and WD repeat domain containing 2							108.0	103.0	104.0					10																	122637962		2203	4298	6501	SO:0001583	missense	55717					integral to membrane		g.chr10:122637962C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1654C>T	10.37:g.122637962C>T	ENSP00000263461:p.Leu552Phe					WDR11_uc010qte.1_Missense_Mutation_p.L154F|WDR11_uc001lfd.1_Missense_Mutation_p.L70F	p.L552F	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			12	1892	+			552					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.1654C>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073218	0.76415	.	.	ENSG00000120008	ENST00000263461	D	0.91577	-2.87	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	L	0.40543	1.245	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.994	D;D;P	0.78314	0.991;0.991;0.84	D	0.93555	0.6890	10	0.62326	D	0.03	-18.3761	20.0992	0.97865	0.0:1.0:0.0:0.0	.	552;552;81	Q9BZH6;B2RCJ6;Q659C9	WDR11_HUMAN;.;.	F	552	ENSP00000263461:L552F	ENSP00000263461:L552F	L	+	1	0	WDR11	122627952	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.339000	0.59322	2.762000	0.94881	0.467000	0.42956	CTT		0.333	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2				16	28	0	0	0	1	0	16	28		
TACC2	10579	broad.mit.edu	37	10	123846157	123846157	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:123846157C>T	ENST00000369005.1	+	4	4482	c.4142C>T	c.(4141-4143)tCc>tTc	p.S1381F	TACC2_ENST00000515603.1_Missense_Mutation_p.S1381F|TACC2_ENST00000334433.3_Missense_Mutation_p.S1381F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S1381F|TACC2_ENST00000515273.1_Missense_Mutation_p.S1381F|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1381					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGAGCCTTCCCAGGACCCA	0.612																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4141-4143)TCC>TTC		transforming, acidic coiled-coil containing							119.0	90.0	100.0					10																	123846157		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846157C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4142C>T	10.37:g.123846157C>T	ENSP00000358001:p.Ser1381Phe					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.S1381F|TACC2_uc010qtv.1_Missense_Mutation_p.S1381F	p.S1381F	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	4502	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1381					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.4142C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798400	0.50208	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.04083	3.77;3.82;3.71;3.77;3.82	4.95	4.05	0.47172	.	0.770143	0.10701	N	0.644050	T	0.05044	0.0135	N	0.24115	0.695	0.09310	N	1	P;P;P	0.38195	0.622;0.622;0.622	B;B;B	0.38106	0.265;0.265;0.265	T	0.40850	-0.9541	10	0.87932	D	0	-0.006	10.3347	0.43844	0.0:0.9074:0.0:0.0926	.	1381;1381;1381	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	1381;1381;1381;1381;1381;1371	ENSP00000358001:S1381F;ENSP00000424467:S1381F;ENSP00000427618:S1381F;ENSP00000334280:S1381F;ENSP00000395048:S1381F	ENSP00000334280:S1381F	S	+	2	0	TACC2	123836147	0.003000	0.15002	0.001000	0.08648	0.064000	0.16182	1.716000	0.37981	1.072000	0.40860	0.549000	0.68633	TCC		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				18	32	0	0	0	1	0	18	32		
PSTK	118672	broad.mit.edu	37	10	124739930	124739930	+	5'UTR	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:124739930G>A	ENST00000368887.3	+	0	375				PSTK_ENST00000405485.1_5'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase						selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GACGCTGCGCGTGCGCGCAGG	0.692											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001lgy.1		NaN																	0				liver(1)	1						c.(-67--63)GCGTG>GCATG		phosphoseryl-tRNA kinase																																				SO:0001623	5_prime_UTR_variant	118672						ATP binding|kinase activity	g.chr10:124739930G>A	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.-66G>A	10.37:g.124739930G>A			OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1536			NM_153336	NP_699167	Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	1	375	+		all_neural(114;0.169)|Glioma(114;0.222)						Q6ZSS9	Translation_Start_Site	SNP	ENST00000368887.3	37	c.-65G>A	CCDS7633.1																																																																																				0.692	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1		NM_153336		3	3	0	0	0	1	0	3	3		
UROS	7390	broad.mit.edu	37	10	127486691	127486691	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:127486691G>A	ENST00000368797.4	-	7	642	c.418C>T	c.(418-420)Cta>Tta	p.L140L	UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Silent_p.L140L	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	140					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CAGGGAAATAGAAGAGGCAGT	0.507																																						uc001liw.3		NaN																	0					0						c.(418-420)CTA>TTA		uroporphyrinogen III synthase							100.0	96.0	98.0					10																	127486691		2203	4300	6503	SO:0001819	synonymous_variant	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127486691G>A	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.418C>T	10.37:g.127486691G>A						UROS_uc001liv.3_Silent_p.F19F|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Silent_p.L140L|UROS_uc001liy.3_RNA	p.L140L	NM_000375	NP_000366	P10746	HEM4_HUMAN			6	551	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	140					B2RC13|D3DRF7|Q9H2T1	Silent	SNP	ENST00000368797.4	37	c.418C>T	CCDS7648.1																																																																																				0.507	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1		NM_000375		25	40	0	0	0	1	0	25	40		
EBF3	253738	broad.mit.edu	37	10	131760444	131760444	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:131760444C>T	ENST00000355311.5	-	4	474	c.402G>A	c.(400-402)atG>atA	p.M134I	EBF3_ENST00000368648.3_Missense_Mutation_p.M134I			Q9H4W6	COE3_HUMAN	early B-cell factor 3	134					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTGTTTGGTCATTGAATCTA	0.488																																						uc001lki.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(400-402)ATG>ATA		early B-cell factor 3							115.0	109.0	111.0					10																	131760444		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131760444C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.402G>A	10.37:g.131760444C>T	ENSP00000347463:p.Met134Ile					EBF3_uc010qur.1_3'UTR	p.M134I	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	4	461	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	134					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.402G>A		.	.	.	.	.	.	.	.	.	.	C	19.85	3.903348	0.72754	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.42900	0.97;0.96	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.38531	1.155	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.11966	-1.0566	10	0.59425	D	0.04	-21.5735	20.1672	0.98154	0.0:1.0:0.0:0.0	.	134	Q9H4W6-2	.	I	134	ENSP00000347463:M134I;ENSP00000357637:M134I	ENSP00000347463:M134I	M	-	3	0	EBF3	131650434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.026000	0.70873	2.861000	0.98227	0.655000	0.94253	ATG		0.488	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2		NM_001005463		16	35	0	0	0	1	0	16	35		
HIPK3	10114	broad.mit.edu	37	11	33308756	33308756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:33308756C>T	ENST00000303296.4	+	2	1101	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	HIPK3_ENST00000379016.3_Nonsense_Mutation_p.Q266*|HIPK3_ENST00000456517.1_Nonsense_Mutation_p.Q266*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.Q266*	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGAATGCTTTCAGCACCGTAA	0.368																																						uc001mul.1		NaN																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(796-798)CAG>TAG		homeodomain interacting protein kinase 3 isoform							89.0	93.0	92.0					11																	33308756		2202	4298	6500	SO:0001587	stop_gained	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308756C>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.796C>T	11.37:g.33308756C>T	ENSP00000304226:p.Gln266*					HIPK3_uc001mum.1_Nonsense_Mutation_p.Q266*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.Q266*	p.Q266*	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			2	1066	+			266			Protein kinase.		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Nonsense_Mutation	SNP	ENST00000303296.4	37	c.796C>T	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947702	0.92593	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7253	0.96161	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000304226:Q266X	Q	+	1	0	HIPK3	33265332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.673000	0.90976	0.585000	0.79938	CAG		0.368	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734		6	87	0	0	0	1	0	6	87		
KIAA1549L	25758	broad.mit.edu	37	11	33605015	33605015	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:33605015G>C	ENST00000321505.4	+	10	3823	c.3643G>C	c.(3643-3645)Gac>Cac	p.D1215H	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D1221H|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D1221H			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1215						integral component of membrane (GO:0016021)											CTTCAAGCCTGACACCATGAT	0.567																																						uc001mup.3		NaN																	0				ovary(2)	2						c.(3661-3663)GAC>CAC		hypothetical protein LOC25758							35.0	37.0	36.0					11																	33605015		2106	4226	6332	SO:0001583	missense	25758					integral to membrane		g.chr11:33605015G>C	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3643G>C	11.37:g.33605015G>C	ENSP00000315295:p.Asp1215His					C11orf41_uc001mun.1_Missense_Mutation_p.D1221H	p.D1221H	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			10	3785	+			1215					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3661G>C	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860903	0.91433	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.80746	2.51	0.52099	D	0.999946	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85379	0.1118	9	0.87932	D	0	-26.8402	19.5469	0.95302	0.0:0.0:1.0:0.0	.	1221;1221	E9PAT2;Q6ZVL6-2	.;.	H	1215;1221;1221;1054	.	ENSP00000265654:D1221H	D	+	1	0	C11orf41	33561591	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	9.476000	0.97823	2.619000	0.88677	0.561000	0.74099	GAC		0.567	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1		NM_012194		2	0	0	0	0	1	0	2	0		
PAMR1	25891	broad.mit.edu	37	11	35492234	35492234	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:35492234G>A	ENST00000378880.2	-	5	1072	c.627C>T	c.(625-627)agC>agT	p.S209S	PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000278360.3_Silent_p.S209S|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Silent_p.S169S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	209	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGGATCCTATGCTCTGGATAG	0.522																																						uc001mwg.2		NaN																	0				ovary(2)	2						c.(625-627)AGC>AGT		regeneration associated muscle protease isoform							126.0	108.0	114.0					11																	35492234		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35492234G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.627C>T	11.37:g.35492234G>A						PAMR1_uc001mwf.2_Silent_p.S209S|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.S169S	p.S209S	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			5	670	-			209			CUB.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.627C>T	CCDS31460.1																																																																																				0.522	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1		NM_015430		15	14	0	0	0	1	0	15	14		
TNKS1BP1	85456	broad.mit.edu	37	11	57076110	57076110	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:57076110G>A	ENST00000532437.1	-	5	4386	c.4075C>T	c.(4075-4077)Cca>Tca	p.P1359S	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1359S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1359	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTTCACTTGGAGCCCCAAAG	0.652																																						uc001njr.2		NaN																	0				skin(1)	1						c.(4075-4077)CCA>TCA		tankyrase 1-binding protein 1							66.0	75.0	72.0					11																	57076110		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076110G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4075C>T	11.37:g.57076110G>A	ENSP00000437271:p.Pro1359Ser					TNKS1BP1_uc001njs.2_Missense_Mutation_p.P1359S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P810S	p.P1359S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	4387	-		all_epithelial(135;0.21)	1359			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4075C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585381	0.28268	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.38401	1.14;1.14	4.96	4.05	0.47172	.	0.274075	0.26582	N	0.023571	T	0.45597	0.1350	L	0.58810	1.83	0.09310	N	1	D	0.61080	0.989	P	0.55923	0.787	T	0.28839	-1.0031	10	0.40728	T	0.16	-1.5034	9.3305	0.38018	0.1003:0.0:0.8997:0.0	.	1359	Q9C0C2	TB182_HUMAN	S	1359	ENSP00000350990:P1359S;ENSP00000437271:P1359S	ENSP00000350990:P1359S	P	-	1	0	TNKS1BP1	56832686	0.082000	0.21442	0.002000	0.10522	0.053000	0.15095	1.832000	0.39151	1.092000	0.41356	0.462000	0.41574	CCA		0.652	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		48	104	0	0	0	1	0	48	104		
RAB3IL1	5866	broad.mit.edu	37	11	61672126	61672126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:61672126G>A	ENST00000394836.2	-	7	948	c.791C>T	c.(790-792)tCg>tTg	p.S264L	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S238L	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	264					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TACCAGCACCGAGAGCTGTGG	0.692																																						uc001nso.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(790-792)TCG>TTG		RAB3A interacting protein (rabin3)-like 1							45.0	39.0	41.0					11																	61672126		2199	4299	6498	SO:0001583	missense	5866						protein binding	g.chr11:61672126G>A	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.791C>T	11.37:g.61672126G>A	ENSP00000378313:p.Ser264Leu					RAB3IL1_uc001nsp.2_Missense_Mutation_p.S238L	p.S264L	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			7	949	-			264					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.791C>T	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102084	0.76983	.	.	ENSG00000167994	ENST00000394836;ENST00000301773	T;T	0.42900	0.96;0.96	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.64506	0.666;0.926	T	0.69862	-0.5030	10	0.72032	D	0.01	-13.6294	18.6177	0.91308	0.0:0.0:1.0:0.0	.	238;264	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	L	264;238	ENSP00000378313:S264L;ENSP00000301773:S238L	ENSP00000301773:S238L	S	-	2	0	RAB3IL1	61428702	1.000000	0.71417	0.959000	0.39883	0.010000	0.07245	7.810000	0.86072	2.655000	0.90218	0.462000	0.41574	TCG		0.692	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1		NM_013401		3	10	0	0	0	1	0	3	10		
TUT1	64852	broad.mit.edu	37	11	62342673	62342673	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:62342673C>T	ENST00000476907.1	-	9	3209	c.2518G>A	c.(2518-2520)Gac>Aac	p.D840N	TUT1_ENST00000308436.7_Missense_Mutation_p.D878N|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000329251.4_5'Flank|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	840					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCATTCGGTCAGCCGGGGAG	0.567																																						uc001nto.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2632-2634)GAC>AAC		terminal uridylyl transferase 1, U6							85.0	78.0	80.0					11																	62342673		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62342673C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2518G>A	11.37:g.62342673C>T	ENSP00000419607:p.Asp840Asn					EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.D374N	p.D878N	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			9	2670	-			840					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.2632G>A		.	.	.	.	.	.	.	.	.	.	C	10.45	1.354926	0.24512	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.36157	1.27;1.28	4.84	4.84	0.62591	.	0.610665	0.17953	N	0.156422	T	0.21801	0.0525	N	0.08118	0	0.28482	N	0.914923	P;B	0.34522	0.455;0.403	B;B	0.36378	0.193;0.223	T	0.08513	-1.0718	10	0.19147	T	0.46	-13.3551	15.4801	0.75517	0.0:1.0:0.0:0.0	.	840;878	Q9H6E5;F5H0R1	STPAP_HUMAN;.	N	878;840	ENSP00000308000:D878N;ENSP00000419607:D840N	ENSP00000308000:D878N	D	-	1	0	TUT1	62099249	0.001000	0.12720	0.360000	0.25837	0.123000	0.20343	0.596000	0.24044	2.514000	0.84764	0.655000	0.94253	GAC		0.567	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2		NM_022830		28	46	0	0	0	1	0	28	46		
ATL3	25923	broad.mit.edu	37	11	63398817	63398817	+	Missense_Mutation	SNP	G	G	C	rs375618827		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:63398817G>C	ENST00000398868.3	-	12	1510	c.1234C>G	c.(1234-1236)Cgt>Ggt	p.R412G	ATL3_ENST00000538786.1_Missense_Mutation_p.R394G|ATL3_ENST00000332645.4_Missense_Mutation_p.R439G	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	412					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TGCTGGTAACGAAAGCTGAAA	0.463																																						uc001nxk.1		NaN																	0				pancreas(1)	1						c.(1234-1236)CGT>GGT		atlastin 3							126.0	121.0	123.0					11																	63398817		1885	4123	6008	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63398817G>C		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1234C>G	11.37:g.63398817G>C	ENSP00000381844:p.Arg412Gly					ATL3_uc010rms.1_Missense_Mutation_p.R394G|ATL3_uc010rmr.1_Missense_Mutation_p.R70G	p.R412G	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN			12	1510	-			412			Cytoplasmic.		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.1234C>G	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963604	0.53507	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.02050	4.48;4.48;4.48	5.51	5.51	0.81932	Guanylate-binding protein, C-terminal (3);	0.052312	0.85682	D	0.000000	T	0.06096	0.0158	M	0.77820	2.39	0.50813	D	0.99989	B	0.17268	0.021	B	0.24155	0.051	T	0.09840	-1.0656	10	0.52906	T	0.07	-4.8907	16.9157	0.86150	0.0:0.0:1.0:0.0	.	412	Q6DD88	ATLA3_HUMAN	G	412;439;394	ENSP00000381844:R412G;ENSP00000329034:R439G;ENSP00000437593:R394G	ENSP00000329034:R439G	R	-	1	0	ATL3	63155393	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.615000	0.67702	2.583000	0.87209	0.655000	0.94253	CGT		0.463	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1		NM_015459		39	60	0	0	0	1	0	39	60		
CCDC88B	283234	broad.mit.edu	37	11	64119604	64119604	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:64119604C>G	ENST00000356786.5	+	19	3146	c.3102C>G	c.(3100-3102)gcC>gcG	p.A1034A	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.A186A	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1034						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCCTAGGCCGAGAAGTCTG	0.667																																						uc001nzy.2		NaN																	0				ovary(3)|skin(1)	4						c.(3100-3102)GCC>GCG		coiled-coil domain containing 88							36.0	41.0	39.0					11																	64119604		2200	4297	6497	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64119604C>G	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3102C>G	11.37:g.64119604C>G						CCDC88B_uc009ypo.1_Silent_p.A1031A|CCDC88B_uc001oaa.2_Silent_p.A186A|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank	p.A1034A	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			19	3146	+			1034			Potential.		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.3102C>G	CCDS8072.2																																																																																				0.667	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1		NM_032251		16	20	0	0	0	1	0	16	20		
CARNS1	57571	broad.mit.edu	37	11	67190990	67190990	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:67190990G>C	ENST00000307823.3	+	9	1854	c.1402G>C	c.(1402-1404)Gat>Cat	p.D468H	CARNS1_ENST00000445895.2_Missense_Mutation_p.D591H|CARNS1_ENST00000423745.2_Missense_Mutation_p.D468H|CARNS1_ENST00000531040.1_Missense_Mutation_p.D565H|CARNS1_ENST00000524740.1_3'UTR	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	468					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCTCAAGCTAGATGGCTGCTT	0.627																																						uc009yrp.2		NaN																	0					0						c.(1402-1404)GAT>CAT		ATP-grasp domain containing 1							51.0	63.0	59.0					11																	67190990		2155	4253	6408	SO:0001583	missense	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67190990G>C		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1402G>C	11.37:g.67190990G>C	ENSP00000308268:p.Asp468His					PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.D607H	p.D468H	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN			9	1854	+			468					A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	c.1402G>C	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259480	0.39995	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	T;T;T;T	0.38560	1.21;1.13;1.13;1.15	5.02	5.02	0.67125	.	0.295611	0.23298	N	0.049702	T	0.50616	0.1626	L	0.29908	0.895	0.30481	N	0.772309	D;D	0.89917	1.0;1.0	D;D	0.78314	0.98;0.991	T	0.52449	-0.8574	10	0.54805	T	0.06	-21.9997	12.2299	0.54482	0.0:0.0:0.8293:0.1707	.	468;607	A5YM72;A5YM72-3	CRNS1_HUMAN;.	H	565;468;565;468;591	ENSP00000431670:D565H;ENSP00000308268:D468H;ENSP00000401519:D468H;ENSP00000389009:D591H	ENSP00000308268:D468H	D	+	1	0	CARNS1	66947566	1.000000	0.71417	0.837000	0.33122	0.594000	0.36715	5.285000	0.65633	2.328000	0.79073	0.448000	0.29417	GAT		0.627	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1		NM_020811		10	15	0	0	0	1	0	10	15		
SHANK2	22941	broad.mit.edu	37	11	70349010	70349010	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:70349010G>A	ENST00000423696.2	-	8	987	c.951C>T	c.(949-951)gtC>gtT	p.V317V	SHANK2_ENST00000449116.2_Silent_p.V108V|SHANK2_ENST00000409530.1_Silent_p.V107V|SHANK2_ENST00000338508.4_Silent_p.V697V|SHANK2_ENST00000449833.2_Silent_p.V108V|SHANK2_ENST00000409161.1_Silent_p.V107V|SHANK2_ENST00000357171.3_Silent_p.V108V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	317	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCTGTGGCCGACTTTGACAA	0.582																																						uc001oqc.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2086-2088)GTC>GTT		SH3 and multiple ankyrin repeat domains 2							154.0	135.0	142.0					11																	70349010		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70349010G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.951C>T	11.37:g.70349010G>A						SHANK2_uc010rqn.1_Silent_p.V108V|SHANK2_uc001opz.2_Silent_p.V108V|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.V108V|SHANK2_uc001opy.2_5'Flank|SHANK2_uc010rqo.1_5'Flank	p.V696V	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		15	2166	-			317			PDZ.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.2088C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.222|9.222	1.033507|1.033507	0.19590|0.19590	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000426687	.|.	.|.	.|.	4.46|4.46	-5.23|-5.23	0.02798|0.02798	.|.	.|.	.|.	.|.	.|.	T|T	0.50599|0.50599	0.1625|0.1625	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51124|0.51124	-0.8745|-0.8745	4|4	.|.	.|.	.|.	.|.	8.8651|8.8651	0.35280|0.35280	0.4951:0.371:0.1339:0.0|0.4951:0.371:0.1339:0.0	.|.	.|.	.|.	.|.	W|L	107|106	.|.	.|.	R|S	-|-	1|2	2|0	SHANK2|SHANK2	70026658|70026658	0.373000|0.373000	0.25073|0.25073	0.952000|0.952000	0.39060|0.39060	0.839000|0.839000	0.47603|0.47603	-0.297000|-0.297000	0.08276|0.08276	-1.043000|-1.043000	0.03258|0.03258	-0.379000|-0.379000	0.06801|0.06801	CGG|TCG		0.582	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		8	59	0	0	0	1	0	8	59		
DHCR7	1717	broad.mit.edu	37	11	71152464	71152464	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:71152464G>A	ENST00000355527.3	-	6	711	c.435C>T	c.(433-435)atC>atT	p.I145I	DHCR7_ENST00000407721.2_Silent_p.I145I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	145			I -> L (in SLOS). {ECO:0000269|PubMed:15954111}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GCAGGCCATTGATCTGATACT	0.552									Smith-Lemli-Opitz syndrome																													uc001oqk.2		NaN																	0				ovary(1)|liver(1)	2						c.(433-435)ATC>ATT		7-dehydrocholesterol reductase	NADH(DB00157)						125.0	99.0	108.0					11																	71152464		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152464G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.435C>T	11.37:g.71152464G>A						DHCR7_uc001oql.2_Silent_p.I145I	p.I145I	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			6	685	-			145		I -> L (in SLOS).			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.435C>T	CCDS8200.1																																																																																				0.552	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1		NM_001360		17	18	0	0	0	1	0	17	18		
MAP6	4135	broad.mit.edu	37	11	75298823	75298823	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:75298823G>A	ENST00000304771.3	-	4	2473	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	MAP6_ENST00000526740.1_Missense_Mutation_p.P246S|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	575	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGACCATAGGAGCTTGATTC	0.502																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NaN																	0					0						c.(1723-1725)CCT>TCT		microtubule-associated protein 6 isoform 1							134.0	129.0	130.0					11																	75298823		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298823G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1723C>T	11.37:g.75298823G>A	ENSP00000307093:p.Pro575Ser						p.P575S	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	1788	-	Ovarian(111;0.11)		575			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1723C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877561	0.33162	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.45276	0.9	4.71	1.73	0.24493	.	0.678176	0.13697	N	0.369095	T	0.26011	0.0634	N	0.25094	0.71	0.09310	N	1	B	0.23058	0.079	B	0.24701	0.055	T	0.19063	-1.0317	10	0.41790	T	0.15	-1.2593	5.2506	0.15519	0.2644:0.1483:0.5873:0.0	.	575	Q96JE9	MAP6_HUMAN	S	575;246;246	ENSP00000307093:P575S	ENSP00000307093:P575S	P	-	1	0	MAP6	74976471	0.034000	0.19679	0.001000	0.08648	0.850000	0.48378	0.831000	0.27476	0.251000	0.21505	0.655000	0.94253	CCT		0.502	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1		NM_033063		59	100	0	0	0	1	0	59	100		
CARD16	114769	broad.mit.edu	37	11	104912200	104912200	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:104912200T>C	ENST00000375706.2	-	3	538	c.521A>G	c.(520-522)cAt>cGt	p.H174R	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	174					regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						AGATCCTTTATGCAAGGGGAG	0.383																																						uc001pip.1		NaN																	0				skin(1)	1						c.(520-522)CAT>CGT		caspase-1 dominant-negative inhibitor pseudo-ICE							76.0	78.0	77.0					11																	104912200		2202	4299	6501	SO:0001583	missense	114769				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:104912200T>C		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.521A>G	11.37:g.104912200T>C	ENSP00000364858:p.His174Arg					CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	p.H174R	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN			3	548	-			174					Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.521A>G	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	6.567	0.472984	0.12461	.	.	ENSG00000204397	ENST00000375706	T	0.18657	2.2	1.36	0.00286	0.14052	.	0.774326	0.11927	N	0.516044	T	0.09335	0.0230	N	0.22421	0.69	0.09310	N	1	P	0.37233	0.588	B	0.24006	0.05	T	0.21381	-1.0247	10	0.87932	D	0	.	3.1998	0.06646	0.3793:0.0:0.0:0.6207	.	174	Q5EG05	CAR16_HUMAN	R	174	ENSP00000364858:H174R	ENSP00000364858:H174R	H	-	2	0	CARD16	104417410	0.002000	0.14202	0.001000	0.08648	0.045000	0.14185	0.336000	0.19823	-0.027000	0.13873	0.260000	0.18958	CAT		0.383	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1				32	53	0	0	0	1	0	32	53		
ALKBH8	91801	broad.mit.edu	37	11	107427575	107427575	+	Missense_Mutation	SNP	C	C	T	rs150490382		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:107427575C>T	ENST00000428149.2	-	3	435	c.284G>A	c.(283-285)aGa>aAa	p.R95K	ALKBH8_ENST00000429370.1_Missense_Mutation_p.R95K|ALKBH8_ENST00000389568.3_Missense_Mutation_p.R95K|ALKBH8_ENST00000417449.2_Missense_Mutation_p.R98K|ALKBH8_ENST00000530933.1_5'UTR	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	95	RRM.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AACATAGGCTCTCTTAGATTC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16575	0.0		0.0	False		,,,				2504	0.0					uc010rvr.1		NaN																	0					0						c.(283-285)AGA>AAA		alkB, alkylation repair homolog 8		C	LYS/ARG	1,4401	2.1+/-5.4	0,1,2200	124.0	115.0	118.0		284	0.6	0.8	11	dbSNP_134	118	0,8596		0,0,4298	no	missense	ALKBH8	NM_138775.2	26	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	95/665	107427575	1,12997	2201	4298	6499	SO:0001583	missense	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107427575C>T	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.284G>A	11.37:g.107427575C>T	ENSP00000415885:p.Arg95Lys					ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.R95K|ALKBH8_uc001pjl.2_RNA	p.R95K	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	3	359	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	95			RRM.		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	c.284G>A	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	5.959	0.360974	0.11296	2.27E-4	0.0	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.39406	1.08;2.64;1.08;1.08	5.77	0.653	0.17828	Nucleotide-binding, alpha-beta plait (1);	0.368592	0.32548	N	0.005943	T	0.08802	0.0218	N	0.00514	-1.41	0.24134	N	0.995756	B	0.02656	0.0	B	0.01281	0.0	T	0.37174	-0.9717	10	0.02654	T	1	-10.7629	5.0811	0.14656	0.0:0.1641:0.2903:0.5456	.	95	Q96BT7	ALKB8_HUMAN	K	95;95;95;98	ENSP00000415885:R95K;ENSP00000391225:R95K;ENSP00000374219:R95K;ENSP00000397673:R98K	ENSP00000260318:R95K	R	-	2	0	ALKBH8	106932785	0.996000	0.38824	0.797000	0.32132	0.891000	0.51852	0.465000	0.22004	0.128000	0.18479	0.655000	0.94253	AGA		0.378	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2		NM_138775		20	32	0	0	0	1	0	20	32		
C11orf65	160140	broad.mit.edu	37	11	108277655	108277655	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:108277655A>G	ENST00000529391.1	-	4	273	c.264T>C	c.(262-264)ttT>ttC	p.F88F	C11orf65_ENST00000525729.1_Silent_p.F39F|C11orf65_ENST00000393084.1_Silent_p.F88F|C11orf65_ENST00000526725.1_5'Flank			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	88										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GTCTGTGAGTAAAAATCTTAT	0.313																																						uc001pkh.2		NaN																	0				ovary(1)	1						c.(262-264)TTT>TTC		hypothetical protein LOC160140							69.0	75.0	73.0					11																	108277655		2201	4298	6499	SO:0001819	synonymous_variant	160140							g.chr11:108277655A>G	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.264T>C	11.37:g.108277655A>G						C11orf65_uc010rvx.1_Silent_p.F39F|C11orf65_uc009yxu.1_RNA	p.F88F	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	5	334	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	88					B4DZU4|Q6PCA8	Silent	SNP	ENST00000529391.1	37	c.264T>C	CCDS8340.1																																																																																				0.313	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3		NM_152587		25	32	0	0	0	1	0	25	32		
DIXDC1	85458	broad.mit.edu	37	11	111853158	111853158	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:111853158G>A	ENST00000440460.2	+	8	1159	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	DIXDC1_ENST00000315253.5_Missense_Mutation_p.E77K|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	289	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GGAACAACAAGAATATTTAGA	0.423											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pml.2		NaN																	0				ovary(1)	1						c.(865-867)GAA>AAA		DIX domain containing 1 isoform a							73.0	71.0	71.0					11																	111853158		1834	4089	5923	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111853158G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.862G>A	11.37:g.111853158G>A	ENSP00000394352:p.Glu288Lys		OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1438	DIXDC1_uc001pmm.2_Missense_Mutation_p.E78K|DIXDC1_uc001pmn.2_5'UTR	p.E289K	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	8	1162	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	289			Potential.|Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	G	21.6	4.166585	0.78339	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.71103	-0.54;0.86	6.17	6.17	0.99709	.	0.107008	0.64402	D	0.000007	T	0.72946	0.3524	.	.	.	0.48452	D	0.999652	P;P	0.52316	0.952;0.732	P;B	0.46685	0.524;0.156	T	0.71013	-0.4715	9	0.38643	T	0.18	-22.3796	19.4432	0.94831	0.0:0.0:1.0:0.0	.	77;289	E7EQ17;Q155Q3	.;DIXC1_HUMAN	K	288;77	ENSP00000394352:E288K;ENSP00000314068:E77K	ENSP00000314068:E77K	E	+	1	0	DIXDC1	111358368	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.935000	0.70145	2.941000	0.99782	0.655000	0.94253	GAA		0.423	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001037954		8	13	0	0	0	1	0	8	13		
CDON	50937	broad.mit.edu	37	11	125848278	125848278	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:125848278C>T	ENST00000392693.3	-	18	3404	c.3277G>A	c.(3277-3279)Ggt>Agt	p.G1093S	CDON_ENST00000263577.7_Splice_Site_p.G1093S|CDON_ENST00000531738.1_Splice_Site_p.G470S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1093					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATTCCACCACCCTGGACAGGA	0.443																																						uc009zbw.2		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(3277-3279)GGT>AGT		surface glycoprotein, Ig superfamily member							64.0	50.0	55.0					11																	125848278		2201	4299	6500	SO:0001630	splice_region_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125848278C>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3277-1G>A	11.37:g.125848278C>T						CDON_uc001qdb.3_Missense_Mutation_p.G470S|CDON_uc001qdc.3_Missense_Mutation_p.G1093S	p.G1093S	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	18	3405	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	1093			Cytoplasmic (Potential).		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.3277G>A	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314261	0.60414	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.73152	-0.72;-0.1;-0.7	5.82	2.4	0.29515	.	0.273862	0.26383	N	0.024696	T	0.60766	0.2294	L	0.43701	1.375	0.39582	D	0.969441	P;P;P	0.46912	0.819;0.886;0.676	B;B;B	0.41917	0.204;0.37;0.197	T	0.60702	-0.7211	10	0.39692	T	0.17	-10.3895	10.5899	0.45304	0.0:0.7465:0.1137:0.1399	.	1093;1093;470	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	S	1093;470;1093	ENSP00000376458:G1093S;ENSP00000432901:G470S;ENSP00000263577:G1093S	ENSP00000263577:G1093S	G	-	1	0	CDON	125353488	1.000000	0.71417	0.950000	0.38849	0.943000	0.58893	3.053000	0.49901	0.761000	0.33130	0.446000	0.29264	GGT		0.443	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2		NM_016952	Missense_Mutation	4	10	0	0	0	1	0	4	10		
KCNJ1	3758	broad.mit.edu	37	11	128709869	128709869	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:128709869G>A	ENST00000392664.2	-	2	443	c.327C>T	c.(325-327)ctC>ctT	p.L109L	KCNJ1_ENST00000392665.2_Silent_p.L90L|KCNJ1_ENST00000392666.1_Silent_p.L90L|KCNJ1_ENST00000324036.3_Silent_p.L90L|KCNJ1_ENST00000440599.2_Silent_p.L90L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	109					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GGAATTCCGGGAGGTCTTTGT	0.448																																						uc001qeo.1		NaN																	0				ovary(3)|breast(1)	4						c.(325-327)CTC>CTT		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						88.0	86.0	87.0					11																	128709869		2201	4297	6498	SO:0001819	synonymous_variant	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709869G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.327C>T	11.37:g.128709869G>A						KCNJ1_uc001qep.1_Silent_p.L90L|KCNJ1_uc001qeq.1_Silent_p.L90L|KCNJ1_uc001qer.1_Silent_p.L90L|KCNJ1_uc001qes.1_Silent_p.L90L	p.L109L	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	378	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	109			Extracellular (By similarity).		B2RMR4|Q6LD67	Silent	SNP	ENST00000392664.2	37	c.327C>T	CCDS8476.1																																																																																				0.448	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1		NM_000220		42	68	0	0	0	1	0	42	68		
ST14	6768	broad.mit.edu	37	11	130066285	130066285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:130066285G>T	ENST00000278742.5	+	10	1583	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	389	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTACCTGCTGGAGCCCGGCGT	0.637																																						uc001qfw.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1165-1167)GAG>TAG		matriptase	Urokinase(DB00013)						57.0	47.0	51.0					11																	130066285		2201	4296	6497	SO:0001587	stop_gained	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130066285G>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1165G>T	11.37:g.130066285G>T	ENSP00000278742:p.Glu389*					ST14_uc010sca.1_Nonsense_Mutation_p.E199*	p.E389*	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	10	1358	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	389			CUB 2.|Extracellular (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Nonsense_Mutation	SNP	ENST00000278742.5	37	c.1165G>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	40	7.982497	0.98594	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	.	.	.	4.62	4.62	0.57501	.	0.193325	0.25011	N	0.033840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.2455	0.73504	0.0:0.0:1.0:0.0	.	.	.	.	X	389;291	.	ENSP00000278742:E389X	E	+	1	0	ST14	129571495	1.000000	0.71417	0.540000	0.28089	0.870000	0.49936	6.409000	0.73289	2.129000	0.65627	0.655000	0.94253	GAG		0.637	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1				4	11	1	0	1.23904e-05	1	1.25394e-05	4	11		
NRIP2	83714	broad.mit.edu	37	12	2944131	2944131	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:2944131G>C	ENST00000337508.4	-	1	59	c.19C>G	c.(19-21)Ctt>Gtt	p.L7V		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	7					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGAGGGAAAGAGGAAAAATA	0.562																																						uc001qlc.2		NaN																	0				ovary(1)	1						c.(19-21)CTT>GTT		nuclear receptor interacting protein 2							37.0	34.0	35.0					12																	2944131		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2944131G>C	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.19C>G	12.37:g.2944131G>C	ENSP00000337501:p.Leu7Val					NRIP2_uc010sed.1_Missense_Mutation_p.L7V|uc009zdz.1_5'Flank	p.L7V	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	91	-			7					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.19C>G	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028629	0.08054	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	.	.	.	3.35	0.284	0.15701	.	1.449860	0.05214	N	0.507261	T	0.28797	0.0714	L	0.40543	1.245	0.09310	N	1	B	0.28026	0.198	B	0.19391	0.025	T	0.12344	-1.0551	9	0.17832	T	0.49	2.345	3.5398	0.07807	0.2566:0.2098:0.5336:0.0	.	7	Q9BQI9	NRIP2_HUMAN	V	7	.	ENSP00000337501:L7V	L	-	1	0	NRIP2	2814392	0.000000	0.05858	0.007000	0.13788	0.211000	0.24417	-0.054000	0.11826	-0.172000	0.10779	0.484000	0.47621	CTT		0.562	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4		NM_031474		15	23	0	0	0	1	0	15	23		
VWF	7450	broad.mit.edu	37	12	6161924	6161924	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:6161924C>T	ENST00000261405.5	-	16	2225	c.1971G>A	c.(1969-1971)gtG>gtA	p.V657V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	657	TIL 2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACTGCAGGTACACCTGGCCTT	0.597																																						uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(1969-1971)GTG>GTA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						33.0	33.0	33.0					12																	6161924		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6161924C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1971G>A	12.37:g.6161924C>T						VWF_uc010set.1_Silent_p.V657V	p.V657V	NM_000552	NP_000543	P04275	VWF_HUMAN			16	2221	-			657			TIL 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1971G>A	CCDS8539.1																																																																																				0.597	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		11	26	0	0	0	1	0	11	26		
C1RL	51279	broad.mit.edu	37	12	7254567	7254567	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:7254567G>A	ENST00000266542.4	-	3	509	c.417C>T	c.(415-417)ttC>ttT	p.F139F	C1RL_ENST00000545337.1_Silent_p.F139F|C1RL_ENST00000544702.1_Silent_p.F139F|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	139	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTGTGTGCGGAAGGTCAGCC	0.627																																						uc001qsn.2		NaN																	0				pancreas(1)	1						c.(415-417)TTC>TTT		complement component 1, r subcomponent-like							117.0	108.0	111.0					12																	7254567		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254567G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.417C>T	12.37:g.7254567G>A						C1RL_uc009zft.2_Silent_p.F139F|C1RL_uc001qso.1_Silent_p.F139F	p.F139F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN			3	434	-			139			CUB.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.417C>T	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	G	8.725	0.915370	0.17907	.	.	ENSG00000139178	ENST00000534950	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	T	0.61540	0.2355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59177	-0.7503	4	.	.	.	.	11.3881	0.49798	0.0:0.0:1.0:0.0	.	.	.	.	S	39	.	.	P	-	1	0	C1RL	7145843	0.995000	0.38212	0.933000	0.37362	0.386000	0.30323	2.702000	0.47102	2.384000	0.81235	0.462000	0.41574	CCG		0.627	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1		NM_016546		50	76	0	0	0	1	0	50	76		
DUSP16	80824	broad.mit.edu	37	12	12630261	12630261	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:12630261G>C	ENST00000228862.2	-	7	2135	c.1504C>G	c.(1504-1506)Cca>Gca	p.P502A	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	502					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CGATGCAGTGGAGATAAAAGG	0.587																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NaN																	0					0						c.(1504-1506)CCA>GCA		dual specificity phosphatase 16							65.0	65.0	65.0					12																	12630261		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630261G>C	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1504C>G	12.37:g.12630261G>C	ENSP00000228862:p.Pro502Ala					DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.P354A	p.P502A	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	2136	-		Prostate(47;0.0687)	502					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1504C>G	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	7.376	0.627835	0.14257	.	.	ENSG00000111266	ENST00000228862	T	0.01821	4.62	5.21	5.21	0.72293	.	0.318948	0.26903	N	0.021906	T	0.03178	0.0093	L	0.55481	1.735	0.80722	D	1	B;B	0.27229	0.172;0.172	B;B	0.16289	0.015;0.015	T	0.51965	-0.8638	10	0.46703	T	0.11	.	18.9488	0.92632	0.0:0.0:1.0:0.0	.	502;502	Q9BY84;Q96N49	DUS16_HUMAN;.	A	502	ENSP00000228862:P502A	ENSP00000228862:P502A	P	-	1	0	DUSP16	12521528	1.000000	0.71417	0.238000	0.24106	0.025000	0.11179	3.967000	0.56802	2.700000	0.92200	0.655000	0.94253	CCA		0.587	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1		NM_030640		37	58	0	0	0	1	0	37	58		
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																						uc001reh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(823-825)CTG>CTA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20523043G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A							p.L275L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			1	847	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	275					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.825G>A	CCDS31754.1																																																																																				0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				17	29	0	0	0	1	0	17	29		
OVCH1	341350	broad.mit.edu	37	12	29639199	29639199	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:29639199T>G	ENST00000318184.5	-	8	974	c.975A>C	c.(973-975)ggA>ggC	p.G325G	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	325	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTCTCTGGCTTCCATTCACTT	0.443																																						uc001rix.1		NaN																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(973-975)GGA>GGC		ovochymase 1 precursor							103.0	97.0	99.0					12																	29639199		1837	4094	5931	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29639199T>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.975A>C	12.37:g.29639199T>G							p.G325G	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			8	975	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		325			CUB 1.			Silent	SNP	ENST00000318184.5	37	c.975A>C																																																																																					0.443	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		NM_183378		21	31	0	0	0	1	0	21	31		
CAPRIN2	65981	broad.mit.edu	37	12	30881858	30881858	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:30881858C>T	ENST00000395805.2	-	8	2053	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	CAPRIN2_ENST00000251071.5_Silent_p.Q502Q|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Silent_p.Q502Q|CAPRIN2_ENST00000298892.5_Silent_p.Q502Q|CAPRIN2_ENST00000308433.5_Silent_p.Q169Q	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTGTTCTTTCTGCAGCTGAA	0.473																																						uc001rji.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1504-1506)CAG>CAA		C1q domain containing 1 isoform 1							151.0	140.0	143.0					12																	30881858		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881858C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1506G>A	12.37:g.30881858C>T						CAPRIN2_uc001rjf.1_Silent_p.Q299Q|CAPRIN2_uc001rjg.1_Silent_p.Q169Q|CAPRIN2_uc001rjh.1_Silent_p.Q502Q|CAPRIN2_uc001rjj.1_Silent_p.Q169Q|CAPRIN2_uc001rjk.3_Silent_p.Q502Q|CAPRIN2_uc001rjl.3_Silent_p.Q502Q|CAPRIN2_uc001rjm.1_Silent_p.Q169Q|CAPRIN2_uc001rjn.1_Silent_p.Q169Q	p.Q502Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			8	2257	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		502						Silent	SNP	ENST00000395805.2	37	c.1506G>A	CCDS55816.1																																																																																				0.473	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2		NM_023925		55	75	0	0	0	1	0	55	75		
ARID2	196528	broad.mit.edu	37	12	46244139	46244139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:46244139C>T	ENST00000334344.6	+	15	2405	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q596*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q355*|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	745					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTGTTCAGAATCATAG	0.443			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(2233-2235)CAG>TAG		AT rich interactive domain 2 (ARID, RFX-like)							84.0	83.0	83.0					12																	46244139		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244139C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2233C>T	12.37:g.46244139C>T	ENSP00000335044:p.Gln745*					ARID2_uc001ror.2_Nonsense_Mutation_p.Q745*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q201*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q372*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q79*	p.Q745*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2233	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	745					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.2233C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	40	8.243108	0.98722	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.97	5.97	0.96955	.	0.461885	0.25598	N	0.029579	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-0.4323	20.428	0.99075	0.0:1.0:0.0:0.0	.	.	.	.	X	745;596;355	.	ENSP00000335044:Q745X	Q	+	1	0	ARID2	44530406	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.036000	0.70948	2.837000	0.97791	0.655000	0.94253	CAG		0.443	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		41	51	0	0	0	1	0	41	51		
RND1	27289	broad.mit.edu	37	12	49255809	49255809	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:49255809C>T	ENST00000309739.5	-	3	431	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	101					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						AGTGCGCTGTCCACTGTCTCT	0.478																																						uc001rsn.2		NaN																	0				ovary(1)	1						c.(301-303)GAC>AAC		GTP-binding protein RHO6 precursor							144.0	120.0	128.0					12																	49255809		2203	4300	6503	SO:0001583	missense	27289				actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding	g.chr12:49255809C>T	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.301G>A	12.37:g.49255809C>T	ENSP00000308461:p.Asp101Asn						p.D101N	NM_014470	NP_055285	Q92730	RND1_HUMAN			3	404	-			101					A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	c.301G>A	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375190	0.82682	.	.	ENSG00000172602	ENST00000309739	T	0.76578	-1.03	5.12	5.12	0.69794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83151	0.5192	L	0.37630	1.12	0.80722	D	1	D	0.57899	0.981	D	0.68765	0.96	D	0.84520	0.0627	10	0.87932	D	0	-28.1192	17.8627	0.88786	0.0:1.0:0.0:0.0	.	101	Q92730	RND1_HUMAN	N	101	ENSP00000308461:D101N	ENSP00000308461:D101N	D	-	1	0	RND1	47542076	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	GAC		0.478	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1		NM_014470		24	28	0	0	0	1	0	24	28		
PRPF40B	25766	broad.mit.edu	37	12	50036434	50036434	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:50036434C>T	ENST00000380281.1	+	20	2092	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	PRPF40B_ENST00000548825.2_Silent_p.F698F|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Silent_p.F663F			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	676	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCCGGCTCTTCCGGGAGTTCC	0.567																																						uc001rur.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(2026-2028)TTC>TTT		Huntingtin interacting protein C isoform 1							84.0	74.0	77.0					12																	50036434		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036434C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2028C>T	12.37:g.50036434C>T						FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.F698F|PRPF40B_uc001ruq.1_Silent_p.F663F|PRPF40B_uc001rus.1_Silent_p.F619F|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.F676F	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			20	2092	+			676					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.2028C>T																																																																																					0.567	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1		NM_012272		16	22	0	0	0	1	0	16	22		
RARG	5916	broad.mit.edu	37	12	53607432	53607432	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:53607432G>A	ENST00000425354.2	-	8	1353	c.866C>T	c.(865-867)tCc>tTc	p.S289F	RARG_ENST00000327550.3_Missense_Mutation_p.S217F|RARG_ENST00000543726.1_Missense_Mutation_p.S267F|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.S278F|RARG_ENST00000394426.1_Missense_Mutation_p.S289F	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	289	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGCCCGTCGGAGAAGGTCAT	0.622											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(865-867)TCC>TTC		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						105.0	92.0	96.0					12																	53607432		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607432G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.866C>T	12.37:g.53607432G>A	ENSP00000388510:p.Ser289Phe		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Missense_Mutation_p.S278F|RARG_uc010sob.1_Missense_Mutation_p.S267F|RARG_uc001scf.2_Missense_Mutation_p.S289F|RARG_uc001scg.2_Missense_Mutation_p.S217F|RARG_uc010soc.1_Missense_Mutation_p.S168F|RARG_uc010sod.1_Missense_Mutation_p.S326F	p.S289F	NM_000966	NP_000957	P13631	RARG_HUMAN			8	1351	-			289			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.866C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086231	0.76642	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.998;0.999;0.997	D	0.98476	1.0603	10	0.87932	D	0	.	17.3465	0.87311	0.0:0.0:1.0:0.0	.	326;267;289;278	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	F	289;289;51;217;278;267;326	ENSP00000388510:S289F;ENSP00000377947:S289F;ENSP00000332695:S217F;ENSP00000343698:S278F;ENSP00000444335:S267F	ENSP00000332695:S217F	S	-	2	0	RARG	51893699	1.000000	0.71417	0.954000	0.39281	0.680000	0.39746	9.808000	0.99193	2.466000	0.83321	0.313000	0.20887	TCC		0.622	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		15	38	0	0	0	1	0	15	38		
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:53607867G>C	ENST00000425354.2	-	7	1276	c.789C>G	c.(787-789)ctC>ctG	p.L263L	RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000394426.1_Silent_p.L263L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(787-789)CTC>CTG		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						205.0	201.0	203.0					12																	53607867		2203	4300	6503	SO:0001819	synonymous_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607867G>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.789C>G	12.37:g.53607867G>C			OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Silent_p.L252L|RARG_uc010sob.1_Silent_p.L241L|RARG_uc001scf.2_Silent_p.L263L|RARG_uc001scg.2_Silent_p.L191L|RARG_uc010soc.1_Silent_p.L142L|RARG_uc010sod.1_Silent_p.L300L	p.L263L	NM_000966	NP_000957	P13631	RARG_HUMAN			7	1274	-			263			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.789C>G	CCDS8850.1																																																																																				0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		66	136	0	0	0	1	0	66	136		
SMUG1	23583	broad.mit.edu	37	12	54576210	54576210	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:54576210G>C	ENST00000508394.2	-	3	545	c.483C>G	c.(481-483)gtC>gtG	p.V161V	SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000337581.3_Silent_p.V161V|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Silent_p.V161V|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	161				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						ATAGATTGTGGACAAAACAGT	0.562								Base excision repair (BER), DNA glycosylases																														uc001sff.1		NaN																	0					0						c.(481-483)GTC>GTG	BER_DNA_glycosylases	single-strand-selective monofunctional							86.0	86.0	86.0					12																	54576210		2203	4300	6503	SO:0001819	synonymous_variant	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576210G>C	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.483C>G	12.37:g.54576210G>C						SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Silent_p.V161V|SMUG1_uc009znf.1_Silent_p.V161V|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	p.V161V	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN			4	612	-			161	Missing (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Silent	SNP	ENST00000508394.2	37	c.483C>G	CCDS8874.1																																																																																				0.562	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3		NM_014311		34	74	0	0	0	1	0	34	74		
ERBB3	2065	broad.mit.edu	37	12	56490853	56490853	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:56490853G>A	ENST00000267101.3	+	20	2739	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.D8N|ERBB3_ENST00000415288.2_Missense_Mutation_p.D708N|ERBB3_ENST00000450146.2_Missense_Mutation_p.D124N	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGCAGCCTGGACCATGCCCA	0.512																																						uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(2299-2301)GAC>AAC		erbB-3 isoform 1 precursor							101.0	82.0	89.0					12																	56490853		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490853G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2299G>A	12.37:g.56490853G>A	ENSP00000267101:p.Asp767Asn					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.D124N|ERBB3_uc010sqc.1_Missense_Mutation_p.D708N|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_Missense_Mutation_p.D8N	p.D767N	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2492	+			767			Cytoplasmic (Potential).|Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2299G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274734	0.95459	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.52677	0.1749	N	0.11255	0.115	0.80722	D	1	P	0.48640	0.913	P	0.51415	0.669	T	0.59836	-0.7379	10	0.59425	D	0.04	.	18.7303	0.91733	0.0:0.0:1.0:0.0	.	767	P21860	ERBB3_HUMAN	N	767;124;708;8	ENSP00000267101:D767N;ENSP00000399178:D124N;ENSP00000408340:D708N;ENSP00000449129:D8N	ENSP00000267101:D767N	D	+	1	0	ERBB3	54777120	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.697000	0.84279	2.793000	0.96121	0.561000	0.74099	GAC		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				29	35	0	0	0	1	0	29	35		
ANKRD52	283373	broad.mit.edu	37	12	56637606	56637606	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:56637606C>T	ENST00000267116.7	-	27	3064	c.2943G>A	c.(2941-2943)ctG>ctA	p.L981L	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	981										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCCCATGACTCAGCAGGGCCT	0.567																																						uc001skm.3		NaN																	0				ovary(2)	2						c.(2941-2943)CTG>CTA		ankyrin repeat domain 52							25.0	24.0	25.0					12																	56637606		1920	4131	6051	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56637606C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2943G>A	12.37:g.56637606C>T							p.L981L	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			27	3033	-			981			ANK 28.		A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.2943G>A	CCDS44920.1																																																																																				0.567	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1		NM_173595		4	0	0	0	0	1	0	4	0		
STAC3	246329	broad.mit.edu	37	12	57637672	57637672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:57637672C>T	ENST00000332782.2	-	12	1219	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	STAC3_ENST00000546246.2_Missense_Mutation_p.E154K|STAC3_ENST00000554578.1_Missense_Mutation_p.E301K	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	340	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CCGCCCGCTTCGTCTCCTTTC	0.562											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snp.2		NaN																	0				ovary(2)|skin(1)	3						c.(1018-1020)GAA>AAA		SH3 and cysteine rich domain 3							31.0	32.0	31.0					12																	57637672		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57637672C>T	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.1018G>A	12.37:g.57637672C>T	ENSP00000329200:p.Glu340Lys		OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024	STAC3_uc009zpl.2_Missense_Mutation_p.R57Q|STAC3_uc001snq.2_Missense_Mutation_p.E301K|STAC3_uc010srm.1_Missense_Mutation_p.E154K	p.E340K	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			12	1213	-			340			SH3 2.		B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.1018G>A	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263699	0.95399	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	T;T;T	0.09163	3.01;3.01;3.01	4.65	4.65	0.58169	Src homology-3 domain (2);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	T	0.00726	-1.1592	10	0.36615	T	0.2	-17.993	16.8234	0.85924	0.0:1.0:0.0:0.0	.	340	Q96MF2	STAC3_HUMAN	K	301;340;154	ENSP00000452068:E301K;ENSP00000329200:E340K;ENSP00000441515:E154K	ENSP00000329200:E340K	E	-	1	0	STAC3	55923939	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	5.655000	0.67981	2.582000	0.87167	0.655000	0.94253	GAA		0.562	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2		NM_145064		4	16	0	0	0	1	0	4	16		
ARHGAP9	64333	broad.mit.edu	37	12	57870952	57870952	+	Missense_Mutation	SNP	G	G	A	rs375759169		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:57870952G>A	ENST00000356411.2	-	5	995	c.857C>T	c.(856-858)cCg>cTg	p.P286L	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P365L|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P357L|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P286L|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P286L|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P102L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	286					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGGGTCAAGCGGTTCTGGGGT	0.522																																						uc001sod.2		NaN																	0				lung(1)	1						c.(1069-1071)CCG>CTG		Rho GTPase activating protein 9 isoform 1		G	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	158.0	127.0	138.0		305,857,857	-0.7	0.0	12		138	0,8600		0,0,4300	no	missense,missense,missense	ARHGAP9	NM_001080156.1,NM_001080157.1,NM_032496.2	98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	102/548,286/641,286/732	57870952	1,13005	2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57870952G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.857C>T	12.37:g.57870952G>A	ENSP00000348782:p.Pro286Leu					ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.P102L|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.P286L|ARHGAP9_uc001soc.2_Missense_Mutation_p.P286L|ARHGAP9_uc001soe.1_Missense_Mutation_p.P365L|ARHGAP9_uc010sro.1_Missense_Mutation_p.P286L	p.P357L	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		8	1263	-			286					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1070C>T		.	.	.	.	.	.	.	.	.	.	G	0.065	-1.213967	0.01555	2.27E-4	0.0	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066	T;T;T;T;T;T	0.40225	3.26;3.27;1.93;3.29;3.16;1.04	3.51	-0.659	0.11424	.	0.472607	0.18769	N	0.131673	T	0.14960	0.0361	N	0.05124	-0.11	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.25641	-1.0126	10	0.09338	T	0.73	.	5.1414	0.14961	0.3561:0.5169:0.1271:0.0	.	286;365;286;286;286;102	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	L	286;286;286;357;335;102;102;102;139;102	ENSP00000377380:P286L;ENSP00000348782:P286L;ENSP00000394307:P286L;ENSP00000377386:P357L;ENSP00000397950:P102L;ENSP00000449829:P102L	ENSP00000344852:P335L	P	-	2	0	ARHGAP9	56157219	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.326000	0.19646	-0.120000	0.11809	-0.302000	0.09304	CCG		0.522	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_032496		21	41	0	0	0	1	0	21	41		
GNS	2799	broad.mit.edu	37	12	65130795	65130795	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:65130795G>C	ENST00000258145.3	-	9	1257	c.1087C>G	c.(1087-1089)Cag>Gag	p.Q363E	GNS_ENST00000542058.1_Missense_Mutation_p.Q343E|GNS_ENST00000418919.2_Missense_Mutation_p.Q307E|GNS_ENST00000543646.1_Missense_Mutation_p.Q395E	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	363					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TTGCTTGTCTGATTTGGTTTG	0.453																																						uc001ssg.3		NaN																	0				central_nervous_system(1)	1						c.(1087-1089)CAG>GAG		glucosamine (N-acetyl)-6-sulfatase precursor							132.0	124.0	127.0					12																	65130795		2203	4300	6503	SO:0001583	missense	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65130795G>C		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1087C>G	12.37:g.65130795G>C	ENSP00000258145:p.Gln363Glu					GNS_uc001ssf.2_Missense_Mutation_p.Q307E|GNS_uc010ssq.1_Missense_Mutation_p.Q395E|GNS_uc010ssr.1_Missense_Mutation_p.Q343E	p.Q363E	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	9	1257	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		363					B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	c.1087C>G	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.123044|4.123044	0.77436|0.77436	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471|ENST00000540196	D;D;D;D|.	0.98531|.	-4.98;-4.98;-4.98;-4.98|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.053633|.	0.85682|.	D|.	0.000000|.	T|.	0.67581|.	0.2908|.	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	P;P;B;P|.	0.49358|.	0.797;0.923;0.078;0.906|.	P;P;B;P|.	0.54026|.	0.492;0.74;0.115;0.523|.	T|.	0.61836|.	-0.6981|.	9|.	.|.	.|.	.|.	-9.5548|-9.5548	19.7895|19.7895	0.96452|0.96452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	343;395;363;307|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	E|X	307;363;395;343;280;300|182	ENSP00000413130:Q307E;ENSP00000258145:Q363E;ENSP00000438497:Q395E;ENSP00000444819:Q343E|.	.|.	Q|S	-|-	1|2	0|0	GNS|GNS	63417062|63417062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	9.645000|9.645000	0.98471|0.98471	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.453	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2				14	27	0	0	0	1	0	14	27		
ZFC3H1	196441	broad.mit.edu	37	12	72024481	72024481	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:72024481G>C	ENST00000378743.3	-	18	3981	c.3623C>G	c.(3622-3624)aCa>aGa	p.T1208R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1208					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGGCTAAGTGTATAGTCTTG	0.318																																						uc001swo.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(3622-3624)ACA>AGA		proline/serine-rich coiled-coil 2							76.0	71.0	72.0					12																	72024481		1816	4081	5897	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72024481G>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3623C>G	12.37:g.72024481G>C	ENSP00000368017:p.Thr1208Arg						p.T1208R	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			18	3982	-			1208					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.3623C>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837156	0.71373	.	.	ENSG00000133858	ENST00000378743	T	0.35421	1.31	4.97	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	L	0.29908	0.895	0.80722	D	1	D	0.59357	0.985	D	0.66196	0.942	T	0.41395	-0.9511	10	0.62326	D	0.03	.	13.0702	0.59057	0.0784:0.0:0.9216:0.0	.	1208	O60293	ZC3H1_HUMAN	R	1208	ENSP00000368017:T1208R	ENSP00000368017:T1208R	T	-	2	0	ZFC3H1	70310748	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	4.840000	0.62817	2.474000	0.83562	0.557000	0.71058	ACA		0.318	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982		14	30	0	0	0	1	0	14	30		
METTL25	84190	broad.mit.edu	37	12	82752565	82752565	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:82752565C>T	ENST00000248306.3	+	1	290	c.221C>T	c.(220-222)tCa>tTa	p.S74L	CCDC59_ENST00000548126.1_5'UTR|METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	74							methyltransferase activity (GO:0008168)										GCCCTGCCCTCAGAGACGCGC	0.662											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001szq.2		NaN																	0					0						c.(220-222)TCA>TTA		hypothetical protein LOC84190							36.0	36.0	36.0					12																	82752565		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82752565C>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.221C>T	12.37:g.82752565C>T	ENSP00000248306:p.Ser74Leu		OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1216	CCDC59_uc001szp.3_5'Flank	p.S74L	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			1	242	+			74					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.221C>T	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495186	0.26774	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.31247	1.5	5.49	1.33	0.21861	.	1.276660	0.05156	N	0.496918	T	0.25938	0.0632	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30090	-0.9990	10	0.13853	T	0.58	13.4458	12.0696	0.53609	0.1084:0.4834:0.4082:0.0	.	74	Q8N6Q8	CL026_HUMAN	L	74	ENSP00000248306:S74L	ENSP00000248306:S74L	S	+	2	0	C12orf26	81276696	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.240000	0.08952	0.258000	0.21686	0.650000	0.86243	TCA		0.662	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1		NM_032230		23	38	0	0	0	1	0	23	38		
UHRF1BP1L	23074	broad.mit.edu	37	12	100452766	100452766	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:100452766C>T	ENST00000279907.7	-	14	2501	c.2289G>A	c.(2287-2289)ttG>ttA	p.L763L	UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	763										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTTCCGCTTCAATCGGCCAG	0.403																																						uc001tgq.2		NaN																	0				ovary(2)	2						c.(2287-2289)TTG>TTA		UHRF1 (ICBP90) binding protein 1-like isoform a							93.0	98.0	97.0					12																	100452766		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100452766C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2289G>A	12.37:g.100452766C>T						UHRF1BP1L_uc001tgp.2_Silent_p.L413L	p.L763L	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2518	-			763					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2289G>A	CCDS31882.1																																																																																				0.403	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947		47	59	0	0	0	1	0	47	59		
CHPT1	56994	broad.mit.edu	37	12	102107962	102107962	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:102107962C>T	ENST00000229266.3	+	2	603	c.368C>T	c.(367-369)tCt>tTt	p.S123F	CHPT1_ENST00000549872.1_Missense_Mutation_p.S123F|CHPT1_ENST00000550385.1_3'UTR	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	123					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGAACAAACTCTTGTTCCCCT	0.378																																						uc001tin.2		NaN																	0					0						c.(367-369)TCT>TTT		choline phosphotransferase 1							145.0	155.0	151.0					12																	102107962		2203	4300	6503	SO:0001583	missense	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102107962C>T		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.368C>T	12.37:g.102107962C>T	ENSP00000229266:p.Ser123Phe					CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.S123F	p.S123F	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN			2	591	+			123					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	c.368C>T	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517163	0.64634	.	.	ENSG00000111666	ENST00000229266;ENST00000549872	T;T	0.45668	0.89;0.89	5.8	3.82	0.43975	.	0.082609	0.85682	D	0.000000	T	0.71022	0.3291	M	0.92122	3.275	0.58432	D	0.999995	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.987	T	0.79001	-0.1981	10	0.87932	D	0	2.3719	15.0965	0.72238	0.0:0.6743:0.3257:0.0	.	123;123	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	F	123	ENSP00000229266:S123F;ENSP00000448766:S123F	ENSP00000229266:S123F	S	+	2	0	CHPT1	100632093	1.000000	0.71417	0.997000	0.53966	0.425000	0.31504	5.520000	0.67080	2.735000	0.93741	0.655000	0.94253	TCT		0.378	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1		NM_020244		37	95	0	0	0	1	0	37	95		
CKAP4	10970	broad.mit.edu	37	12	106633728	106633728	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:106633728C>T	ENST00000378026.4	-	2	1019	c.883G>A	c.(883-885)Gag>Aag	p.E295K	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GTCTGTATCTCCTTCACAGCT	0.517																																						uc001tlk.2		NaN																	0					0						c.(883-885)GAG>AAG		cytoskeleton-associated protein 4							150.0	151.0	151.0					12																	106633728		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633728C>T	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.883G>A	12.37:g.106633728C>T	ENSP00000367265:p.Glu295Lys						p.E295K	NM_006825	NP_006816	Q07065	CKAP4_HUMAN			2	967	-			295			Potential.		Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.883G>A	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538218	0.65085	.	.	ENSG00000136026	ENST00000378026	T	0.81163	-1.46	5.54	4.65	0.58169	.	0.267058	0.41823	D	0.000806	T	0.80042	0.4551	M	0.75264	2.295	0.46678	D	0.999155	B	0.32203	0.36	B	0.32022	0.139	T	0.78959	-0.1998	10	0.44086	T	0.13	-5.3382	14.215	0.65788	0.0:0.9286:0.0:0.0714	.	295	Q07065	CKAP4_HUMAN	K	295	ENSP00000367265:E295K	ENSP00000367265:E295K	E	-	1	0	CKAP4	105157858	1.000000	0.71417	0.855000	0.33649	0.842000	0.47809	5.219000	0.65262	1.344000	0.45657	0.563000	0.77884	GAG		0.517	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1				35	86	0	0	0	1	0	35	86		
ALKBH2	121642	broad.mit.edu	37	12	109530580	109530580	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:109530580G>A	ENST00000429722.2	-	2	375	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ALKBH2_ENST00000440112.2_Silent_p.F4F|ALKBH2_ENST00000343075.3_Silent_p.F4F	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	4					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CTTTCACCAGGAATCTGTCCA	0.522								Direct reversal of damage																														uc001tnx.2		NaN																	0					0						c.(10-12)TTC>TTT	Direct_reversal_of_damage	AlkB homolog 2	Vitamin C(DB00126)						93.0	101.0	99.0					12																	109530580		2203	4300	6503	SO:0001819	synonymous_variant	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109530580G>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.12C>T	12.37:g.109530580G>A						ALKBH2_uc001tny.2_Silent_p.F4F|ALKBH2_uc010sxj.1_Silent_p.F4F|ALKBH2_uc009zvd.2_Silent_p.F4F|ALKBH2_uc010sxk.1_Silent_p.F4F	p.F4F	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN			2	405	-			4					A4PET2|Q5XLE3	Silent	SNP	ENST00000429722.2	37	c.12C>T	CCDS31897.1																																																																																				0.522	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2		NM_001001655		39	83	0	0	0	1	0	39	83		
ATXN2	6311	broad.mit.edu	37	12	111951193	111951193	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:111951193G>A	ENST00000377617.3	-	11	2167	c.2006C>T	c.(2005-2007)tCg>tTg	p.S669L	ATXN2_ENST00000608853.1_Missense_Mutation_p.S509L|ATXN2_ENST00000535949.1_Missense_Mutation_p.S380L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S404L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S404L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S669L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	669	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTCCCCCCGAGGGACTGGT	0.512																																						uc001tsj.2		NaN																	0				ovary(1)|breast(1)	2						c.(2005-2007)TCG>TTG		ataxin 2							109.0	94.0	99.0					12																	111951193		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111951193G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2006C>T	12.37:g.111951193G>A	ENSP00000366843:p.Ser669Leu					ATXN2_uc001tsh.2_Missense_Mutation_p.S404L|ATXN2_uc001tsi.2_Missense_Mutation_p.S380L|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S404L	p.S669L	NM_002973	NP_002964	Q99700	ATX2_HUMAN			11	2168	-			669			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2006C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132798	0.77662	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467;ENST00000550236	T;T	0.72051	-0.49;-0.62	5.34	5.34	0.76211	.	0.101452	0.64402	D	0.000001	T	0.56352	0.1979	N	0.24115	0.695	0.58432	D	0.999999	B;B;D;B	0.53619	0.342;0.269;0.961;0.447	B;B;B;B	0.36845	0.045;0.025;0.234;0.094	T	0.60063	-0.7336	10	0.33940	T	0.23	-5.2151	19.3922	0.94587	0.0:0.0:1.0:0.0	.	404;669;380;404	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	L	404;669;669;404;380;59;84	ENSP00000366843:S669L;ENSP00000446576:S669L	ENSP00000366843:S669L	S	-	2	0	ATXN2	110435576	1.000000	0.71417	0.765000	0.31456	0.999000	0.98932	9.296000	0.96104	2.650000	0.89964	0.650000	0.86243	TCG		0.512	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3		NM_002973		19	32	0	0	0	1	0	19	32		
DTX1	1840	broad.mit.edu	37	12	113515257	113515257	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:113515257C>T	ENST00000257600.3	+	2	791	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	96	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCGCAACTTCTACGACCCGT	0.672																																						uc001tuk.1		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(286-288)TTC>TTT		deltex homolog 1							43.0	43.0	43.0					12																	113515257		2202	4300	6502	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515257C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.288C>T	12.37:g.113515257C>T							p.F96F	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			2	624	+			96			WWE 2.		O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.288C>T	CCDS9164.1																																																																																				0.672	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2				13	26	0	0	0	1	0	13	26		
VPS37B	79720	broad.mit.edu	37	12	123353041	123353041	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:123353041C>G	ENST00000267202.2	-	3	733	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	118	Interaction with IST1.|VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTGTCTTCCTCAATCTTGGCC	0.557																																						uc001udl.2		NaN																	0					0						c.(352-354)GAG>CAG		vacuolar protein sorting 37B							100.0	78.0	86.0					12																	123353041		2203	4300	6503	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123353041C>G	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.352G>C	12.37:g.123353041C>G	ENSP00000267202:p.Glu118Gln						p.E118Q	NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	3	455	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		118			VPS37 C-terminal.|Interaction with IST1.			Missense_Mutation	SNP	ENST00000267202.2	37	c.352G>C	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.872667	0.91587	.	.	ENSG00000139722	ENST00000267202;ENST00000535765;ENST00000371248	D;D;D	0.82433	-1.61;-1.61;-1.61	5.19	5.19	0.71726	Modifier of rudimentary, Modr (2);	0.000000	0.85682	D	0.000000	D	0.92711	0.7683	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93883	0.7173	10	0.72032	D	0.01	-31.5294	18.7319	0.91738	0.0:1.0:0.0:0.0	.	118	Q9H9H4	VP37B_HUMAN	Q	118;116;116	ENSP00000267202:E118Q;ENSP00000446075:E116Q;ENSP00000360294:E116Q	ENSP00000267202:E118Q	E	-	1	0	VPS37B	121918994	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.365000	0.79537	2.413000	0.81919	0.580000	0.79431	GAG		0.557	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1		NM_024667		4	14	0	0	0	1	0	4	14		
PIWIL1	9271	broad.mit.edu	37	12	130839176	130839176	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:130839176C>G	ENST00000245255.3	+	10	1411	c.1139C>G	c.(1138-1140)gCc>gGc	p.A380G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	380	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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)		CCAGGGCCTGCCATGCTCATT	0.537																																						uc001uik.2		NaN																	0				ovary(2)	2						c.(1138-1140)GCC>GGC		piwi-like 1							64.0	71.0	68.0					12																	130839176		2203	4300	6503	SO:0001583	missense	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.chr12:130839176C>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.1139C>G	12.37:g.130839176C>G	ENSP00000245255:p.Ala380Gly					PIWIL1_uc001uij.1_Missense_Mutation_p.A380G	p.A380G	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)	10	1229	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		380			PAZ.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1139C>G	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773072	0.69992	.	.	ENSG00000125207	ENST00000245255	T	0.10288	2.89	5.37	5.37	0.77165	Argonaute/Dicer protein, PAZ (4);	0.222050	0.47093	D	0.000256	T	0.19927	0.0479	M	0.66939	2.045	0.42193	D	0.991738	B;B	0.27932	0.137;0.194	B;B	0.42692	0.395;0.314	T	0.05566	-1.0877	10	0.87932	D	0	-5.3168	7.9016	0.29738	0.0:0.8246:0.0:0.1754	.	380;380	Q96J94;Q96J94-2	PIWL1_HUMAN;.	G	380	ENSP00000245255:A380G	ENSP00000245255:A380G	A	+	2	0	PIWIL1	129405129	0.993000	0.37304	0.039000	0.18376	0.925000	0.55904	2.932000	0.48940	2.512000	0.84698	0.558000	0.71614	GCC		0.537	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1				36	79	0	0	0	1	0	36	79		
THSD1	55901	broad.mit.edu	37	13	52952424	52952424	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:52952424C>G	ENST00000258613.4	-	5	1859	c.1681G>C	c.(1681-1683)Gac>Cac	p.D561H	THSD1_ENST00000349258.4_Missense_Mutation_p.D508H|THSD1_ENST00000544466.1_Missense_Mutation_p.D182H	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	561					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATGGCAGTGTCTGTCAGGGGA	0.522																																						uc001vgo.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1681-1683)GAC>CAC		thrombospondin type I domain-containing 1							96.0	101.0	99.0					13																	52952424		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952424C>G	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1681G>C	13.37:g.52952424C>G	ENSP00000258613:p.Asp561His					THSD1_uc001vgp.2_Missense_Mutation_p.D508H|THSD1_uc010tgz.1_Missense_Mutation_p.D182H|THSD1_uc010aea.2_Missense_Mutation_p.D22H	p.D561H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2226	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	561			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1681G>C	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568141	0.65651	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.48836	1.48;0.8;1.68	5.37	5.37	0.77165	.	0.111140	0.56097	D	0.000022	T	0.69342	0.3100	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.72544	-0.4261	10	0.87932	D	0	-28.7992	18.1045	0.89516	0.0:1.0:0.0:0.0	.	508;561	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	H	508;182;561	ENSP00000340650:D508H;ENSP00000438512:D182H;ENSP00000258613:D561H	ENSP00000258613:D561H	D	-	1	0	THSD1	51850425	1.000000	0.71417	0.976000	0.42696	0.473000	0.32948	7.014000	0.76380	2.513000	0.84729	0.650000	0.86243	GAC		0.522	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3				72	30	0	0	0	1	0	72	30		
SLITRK5	26050	broad.mit.edu	37	13	88328436	88328436	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:88328436G>A	ENST00000325089.6	+	2	1012	c.793G>A	c.(793-795)Gag>Aag	p.E265K	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	265	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGTAGTTTGTGAGACCCCCTT	0.512																																						uc001vln.2		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(793-795)GAG>AAG		SLIT and NTRK-like family, member 5 precursor							92.0	93.0	93.0					13																	88328436		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328436G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.793G>A	13.37:g.88328436G>A	ENSP00000366283:p.Glu265Lys					SLITRK5_uc010tic.1_Intron	p.E265K	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1012	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		265			LRRCT 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.793G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927336	0.73327	.	.	ENSG00000165300	ENST00000325089	T	0.47869	0.83	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.055965	0.64402	D	0.000002	T	0.66127	0.2758	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.63373	-0.6652	9	.	.	.	-19.7588	17.464	0.87627	0.0:0.0:1.0:0.0	.	265	O94991	SLIK5_HUMAN	K	265	ENSP00000366283:E265K	.	E	+	1	0	SLITRK5	87126437	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.641000	0.83368	2.724000	0.93272	0.491000	0.48974	GAG		0.512	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3				38	61	0	0	0	1	0	38	61		
GPC5	2262	broad.mit.edu	37	13	92345823	92345823	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:92345823C>G	ENST00000377067.3	+	3	1080	c.708C>G	c.(706-708)atC>atG	p.I236M		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	236					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGAAGTCATCAACACCACAG	0.532																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(706-708)ATC>ATG		glypican 5 precursor							56.0	49.0	51.0					13																	92345823		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345823C>G	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.708C>G	13.37:g.92345823C>G	ENSP00000366267:p.Ile236Met						p.I236M	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1074	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	236					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.708C>G	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923143	0.52653	.	.	ENSG00000179399	ENST00000377067	T	0.56103	0.48	5.49	4.65	0.58169	.	0.049580	0.85682	D	0.000000	T	0.60011	0.2236	L	0.61387	1.9	0.39118	D	0.961608	P	0.42649	0.786	P	0.52031	0.688	T	0.65142	-0.6240	10	0.87932	D	0	.	8.5619	0.33516	0.1509:0.772:0.0:0.0771	.	236	P78333	GPC5_HUMAN	M	236	ENSP00000366267:I236M	ENSP00000366267:I236M	I	+	3	3	GPC5	91143824	0.991000	0.36638	1.000000	0.80357	0.965000	0.64279	0.367000	0.20382	1.311000	0.45024	0.591000	0.81541	ATC		0.532	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		24	40	0	0	0	1	0	24	40		
DOCK9	23348	broad.mit.edu	37	13	99532219	99532219	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:99532219G>A	ENST00000376460.1	-	27	2956	c.2876C>T	c.(2875-2877)tCa>tTa	p.S959L	DOCK9_ENST00000339416.2_Missense_Mutation_p.S960L|DOCK9_ENST00000442173.1_Missense_Mutation_p.S959L|DOCK9_ENST00000448493.2_Missense_Mutation_p.S971L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	960					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAAACCATGAGTACTAAAA	0.363																																						uc001vnt.2		NaN																	0				central_nervous_system(1)	1						c.(2878-2880)TCA>TTA		dedicator of cytokinesis 9 isoform a							83.0	76.0	78.0					13																	99532219		1867	4095	5962	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99532219G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2876C>T	13.37:g.99532219G>A	ENSP00000365643:p.Ser959Leu					DOCK9_uc001vnw.2_Missense_Mutation_p.S959L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.S960L|DOCK9_uc010tis.1_Missense_Mutation_p.S959L|DOCK9_uc010tit.1_Missense_Mutation_p.S960L|DOCK9_uc010afu.1_Missense_Mutation_p.S806L	p.S960L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			27	2934	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		960					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.2879C>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041934	0.93685	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.36	5.36	0.76844	.	0.059268	0.64402	D	0.000001	T	0.52773	0.1755	M	0.83223	2.63	0.80722	D	1	D;D;P;D;D	0.89917	0.989;1.0;0.887;0.979;0.999	P;D;P;P;D	0.91635	0.893;0.999;0.638;0.882;0.985	T	0.56637	-0.7946	10	0.62326	D	0.03	-13.5376	19.4661	0.94943	0.0:0.0:1.0:0.0	.	960;959;959;959;960	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	L	959;960;960;960;959;960;971;959	ENSP00000365643:S959L;ENSP00000341086:S960L;ENSP00000401958:S971L;ENSP00000406883:S959L	ENSP00000341086:S960L	S	-	2	0	DOCK9	98330220	1.000000	0.71417	0.992000	0.48379	0.925000	0.55904	9.406000	0.97321	2.672000	0.90937	0.555000	0.69702	TCA		0.363	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1		NM_015296		15	29	0	0	0	1	0	15	29		
BIVM	54841	broad.mit.edu	37	13	103468829	103468829	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:103468829G>A	ENST00000257336.1	+	4	1209	c.530G>A	c.(529-531)aGa>aAa	p.R177K	BIVM-ERCC5_ENST00000602836.1_Silent_p.K148K|BIVM_ENST00000419638.1_Missense_Mutation_p.R177K|BIVM_ENST00000448849.2_5'UTR	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	177						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAAAGGGAAGATATCAGAAG	0.328																																						uc001vpu.1		NaN								Mis|N|F						skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(529-531)AGA>AAA	Direct_reversal_of_damage|NER	XPG-complementing protein							104.0	102.0	103.0					13																	103468829		2203	4297	6500	SO:0001583	missense	2073	Xeroderma_Pigmentosum			negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103468829G>A	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.530G>A	13.37:g.103468829G>A	ENSP00000257336:p.Arg177Lys					BIVM_uc001vps.2_Missense_Mutation_p.R177K|BIVM_uc010agc.2_5'UTR|BIVM_uc001vpt.2_Missense_Mutation_p.R177K	p.R177K	NM_000123	NP_000114	P28715	ERCC5_HUMAN			2	652	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Error:Variant_position_missing_in_P28715_after_alignment					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.530G>A	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777371	0.31411	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	3.91	0.45181	.	0.185760	0.45126	N	0.000395	T	0.24431	0.0592	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.002	T	0.07635	-1.0762	9	0.11794	T	0.64	.	4.2781	0.10818	0.4451:0.0:0.5549:0.0	.	148;177	Q59FZ7;Q86UB2	.;BIVM_HUMAN	K	177;177;148	.	ENSP00000257336:R177K	R	+	2	0	ERCC5;BIVM	102266830	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.671000	0.46842	1.485000	0.48380	0.650000	0.86243	AGA		0.328	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2				21	30	0	0	0	1	0	21	30		
MYO16	23026	broad.mit.edu	37	13	109507866	109507866	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:109507866G>A	ENST00000357550.2	+	10	1299	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	MYO16_ENST00000251041.5_Missense_Mutation_p.E420K|MYO16_ENST00000356711.2_Missense_Mutation_p.E420K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCTCTATGAGATTCAGAA	0.478																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1258-1260)GAG>AAG		myosin heavy chain Myr 8							93.0	78.0	83.0					13																	109507866		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109507866G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1258G>A	13.37:g.109507866G>A	ENSP00000350160:p.Glu420Lys					MYO16_uc010agk.1_Missense_Mutation_p.E442K|MYO16_uc001vqu.1_Missense_Mutation_p.E220K	p.E420K	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		11	1384	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		420			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.1258G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324556	0.95708	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.87179	-2.22;-2.22;-2.22	5.84	5.84	0.93424	Myosin head, motor domain (2);	0.000000	0.41001	U	0.000965	D	0.94066	0.8098	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.93719	0.7031	9	.	.	.	.	18.7092	0.91649	0.0:0.0:1.0:0.0	.	420;420	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	K	420;420;420;420;208	ENSP00000349145:E420K;ENSP00000350160:E420K;ENSP00000251041:E420K	.	E	+	1	0	MYO16	108305867	1.000000	0.71417	0.990000	0.47175	0.840000	0.47671	8.646000	0.91053	2.748000	0.94277	0.650000	0.86243	GAG		0.478	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		14	13	0	0	0	1	0	14	13		
CARS2	79587	broad.mit.edu	37	13	111357910	111357910	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:111357910C>T	ENST00000257347.4	-	2	296	c.233G>A	c.(232-234)tGt>tAt	p.C78Y	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	78					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AGTTGGTCCACAGCTATACCT	0.353																																						uc001vrd.2		NaN																	0					0						c.(232-234)TGT>TAT		cysteinyl-tRNA synthetase 2, mitochondrial	L-Cysteine(DB00151)						89.0	83.0	85.0					13																	111357910		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111357910C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.233G>A	13.37:g.111357910C>T	ENSP00000257347:p.Cys78Tyr					CARS2_uc010tjm.1_Intron	p.C78Y	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		2	273	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		78				Zinc (By similarity).	Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.233G>A	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227554	0.79576	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.62105	0.05	4.94	4.94	0.65067	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93816	0.7114	10	0.87932	D	0	-3.961	16.95	0.86242	0.0:1.0:0.0:0.0	.	78	Q9HA77	SYCM_HUMAN	Y	78;69	ENSP00000257347:C78Y	ENSP00000257347:C78Y	C	-	2	0	CARS2	110155911	1.000000	0.71417	0.964000	0.40570	0.627000	0.37826	6.424000	0.73366	2.281000	0.76405	0.455000	0.32223	TGT		0.353	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3		NM_024537		12	29	0	0	0	1	0	12	29		
HEATR5A	25938	broad.mit.edu	37	14	31782285	31782285	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:31782285C>T	ENST00000389961.3	-	27	4311	c.4312G>A	c.(4312-4314)Gac>Aac	p.D1438N	HEATR5A_ENST00000439348.1_Missense_Mutation_p.D1438N|HEATR5A_ENST00000543095.2_Missense_Mutation_p.D1444N|AL136418.1_ENST00000582500.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D1151N			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1438										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGACTAAGTCAAGCAGTCCA	0.428																																						uc001wrf.3		NaN																	0				ovary(1)	1						c.(3451-3453)GAC>AAC		HEAT repeat containing 5A							233.0	227.0	229.0					14																	31782285		2007	4184	6191	SO:0001583	missense	25938						binding	g.chr14:31782285C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4312G>A	14.37:g.31782285C>T	ENSP00000374611:p.Asp1438Asn					HEATR5A_uc010ami.2_Missense_Mutation_p.D1049N	p.D1151N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	22	3528	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1438					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3451G>A		.	.	.	.	.	.	.	.	.	.	C	13.08	2.129675	0.37630	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.81	4.81	0.61882	.	0.509754	0.22293	N	0.061972	T	0.33702	0.0872	L	0.51422	1.61	0.80722	D	1	B	0.17268	0.021	B	0.15484	0.013	T	0.10042	-1.0647	10	0.15066	T	0.55	.	9.9624	0.41704	0.1545:0.696:0.1494:0.0	.	1438	Q86XA9-2	.	N	1438;1438;1151;1444	ENSP00000374611:D1438N;ENSP00000405407:D1438N;ENSP00000408681:D1151N;ENSP00000437968:D1444N	ENSP00000374611:D1438N	D	-	1	0	HEATR5A	30852036	1.000000	0.71417	0.994000	0.49952	0.743000	0.42351	3.267000	0.51577	2.380000	0.81148	0.655000	0.94253	GAC		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015473		37	30	0	0	0	1	0	37	30		
ARHGAP5	394	broad.mit.edu	37	14	32624002	32624002	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:32624002G>A	ENST00000345122.3	+	7	4672	c.4357G>A	c.(4357-4359)Gaa>Aaa	p.E1453K	ARHGAP5_ENST00000396582.2_Missense_Mutation_p.E188K|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.E192K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E1453K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E1452K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E1452K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1453					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTACAATGGAGAAATTGTAGA	0.418																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(4357-4359)GAA>AAA		Rho GTPase activating protein 5 isoform b							64.0	59.0	61.0					14																	32624002		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32624002G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4357G>A	14.37:g.32624002G>A	ENSP00000371897:p.Glu1453Lys					ARHGAP5_uc001wrm.2_Missense_Mutation_p.E1452K|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E1453K|ARHGAP5_uc001wro.2_Missense_Mutation_p.E192K|ARHGAP5_uc001wrp.2_Missense_Mutation_p.E188K	p.E1453K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	7	4596	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1453					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.4357G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162836	0.38217	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497	T;T;T;T;T;T	0.09630	2.99;3.0;3.47;3.0;2.99;2.96	4.87	3.97	0.46021	.	0.111959	0.64402	D	0.000012	T	0.17534	0.0421	L	0.29908	0.895	0.53688	D	0.999975	P;B;B	0.38148	0.62;0.364;0.249	P;B;B	0.52957	0.714;0.31;0.164	T	0.05131	-1.0904	10	0.33940	T	0.23	.	14.7805	0.69764	0.0:0.0:0.8542:0.1458	.	188;1452;1453	Q13017-3;Q13017-2;Q13017	.;.;RHG05_HUMAN	K	1452;1453;188;1453;1452;192	ENSP00000452222:E1452K;ENSP00000441692:E1453K;ENSP00000379827:E188K;ENSP00000371897:E1453K;ENSP00000393307:E1452K;ENSP00000407395:E192K	ENSP00000371897:E1453K	E	+	1	0	ARHGAP5	31693753	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.645000	0.83430	1.180000	0.42898	-0.194000	0.12790	GAA		0.418	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		26	11	0	0	0	1	0	26	11		
PCNXL4	64430	broad.mit.edu	37	14	60591527	60591527	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:60591527C>G	ENST00000406854.1	+	9	3192	c.2638C>G	c.(2638-2640)Cta>Gta	p.L880V	PCNXL4_ENST00000535349.1_Missense_Mutation_p.L87V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L880V|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L646V|PCNXL4_ENST00000406949.1_Missense_Mutation_p.L646V			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	880						integral component of membrane (GO:0016021)											CAAAGCAGTTCTATTAGGATA	0.408																																						uc001xer.3		NaN																	0				ovary(2)	2						c.(1936-1938)CTA>GTA		hepatitis C virus F protein-binding protein 2							120.0	128.0	126.0					14																	60591527		2203	4292	6495	SO:0001583	missense	64430					integral to membrane		g.chr14:60591527C>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2638C>G	14.37:g.60591527C>G	ENSP00000384801:p.Leu880Val					C14orf135_uc001xeq.2_Missense_Mutation_p.L646V|C14orf135_uc010apm.2_RNA	p.L646V	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	8	2458	+		Myeloproliferative disorder(585;0.163)	880					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.1936C>G		.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909567	0.00508	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.28454	2.03;2.03;2.02;2.03;1.61	5.13	-2.07	0.07276	.	1.008970	0.07929	N	0.977197	T	0.07728	0.0194	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32561	-0.9902	10	0.11794	T	0.64	.	1.7864	0.03042	0.1704:0.3401:0.3272:0.1623	.	880;646	Q63HM2;B5MC47	CN135_HUMAN;.	V	646;880;646;880;87	ENSP00000317396:L646V;ENSP00000384801:L880V;ENSP00000385201:L646V;ENSP00000385713:L880V;ENSP00000445644:L87V	ENSP00000317396:L646V	L	+	1	2	C14orf135	59661280	0.010000	0.17322	0.001000	0.08648	0.396000	0.30629	0.109000	0.15417	-0.184000	0.10567	-1.546000	0.00904	CTA		0.408	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1		NM_022495		67	52	0	0	0	1	0	67	52		
HIF1A	3091	broad.mit.edu	37	14	62200933	62200933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:62200933C>T	ENST00000337138.4	+	8	1223	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	HIF1A_ENST00000323441.6_Nonsense_Mutation_p.Q320*|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Nonsense_Mutation_p.Q261*|HIF1A_ENST00000394997.1_Nonsense_Mutation_p.Q321*|HIF1A_ENST00000539097.1_Nonsense_Mutation_p.Q344*|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	320	Interaction with TSGA10. {ECO:0000250}.|PAC.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GGTTGAAACTCAAGCAACTGT	0.383																																						uc001xfq.2		NaN																	0				kidney(3)|lung(1)	4						c.(958-960)CAA>TAA		hypoxia-inducible factor 1, alpha subunit							118.0	105.0	109.0					14																	62200933		2203	4300	6503	SO:0001587	stop_gained	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62200933C>T	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.958C>T	14.37:g.62200933C>T	ENSP00000338018:p.Gln320*					HIF1A_uc001xfr.2_Nonsense_Mutation_p.Q320*|HIF1A_uc001xfs.2_Nonsense_Mutation_p.Q321*	p.Q320*	NM_001530	NP_001521	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	8	1362	+			320			Interaction with TSGA10 (By similarity).|PAC.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Nonsense_Mutation	SNP	ENST00000337138.4	37	c.958C>T	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	C	42	9.248765	0.99113	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	.	.	.	X	71;261;320;321;320;261;344	.	ENSP00000323326:Q320X	Q	+	1	0	HIF1A	61270686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.707000	0.92482	0.557000	0.71058	CAA		0.383	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2		NM_001530		19	5	0	0	0	1	0	19	5		
SYNE2	23224	broad.mit.edu	37	14	64453240	64453240	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:64453240G>A	ENST00000344113.4	+	19	2430	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	SYNE2_ENST00000358025.3_Missense_Mutation_p.E740K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E740K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	740					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAAGATGTTGAAAAACTCAT	0.388																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(2218-2220)GAA>AAA		spectrin repeat containing, nuclear envelope 2							121.0	116.0	118.0					14																	64453240		1877	4104	5981	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64453240G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2218G>A	14.37:g.64453240G>A	ENSP00000341781:p.Glu740Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.E740K	p.E740K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	19	2448	+			740			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.2218G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943394	0.53079	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58358	0.69;0.7;0.34	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000024	T	0.65749	0.2721	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.57740	-0.7759	10	0.17369	T	0.5	.	16.505	0.84270	0.0:0.0:1.0:0.0	.	740;740	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	740	ENSP00000350719:E740K;ENSP00000341781:E740K;ENSP00000452570:E740K	ENSP00000261678:E740K	E	+	1	0	SYNE2	63522993	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.948000	0.49066	2.672000	0.90937	0.563000	0.77884	GAA		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		14	24	0	0	0	1	0	14	24		
ZFYVE26	23503	broad.mit.edu	37	14	68238913	68238913	+	Missense_Mutation	SNP	G	G	A	rs376671127		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:68238913G>A	ENST00000347230.4	-	28	5473	c.5335C>T	c.(5335-5337)Cat>Tat	p.H1779Y	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H1779Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1779					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTAGGGGAATGTATACTGGAG	0.498																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(5335-5337)CAT>TAT		zinc finger, FYVE domain containing 26		G	TYR/HIS	0,4406		0,0,2203	27.0	29.0	28.0		5335	2.0	0.0	14		28	1,8599		0,1,4299	no	missense	ZFYVE26	NM_015346.3	83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1779/2540	68238913	1,13005	2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68238913G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5335C>T	14.37:g.68238913G>A	ENSP00000251119:p.His1779Tyr					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H1779Y	p.H1779Y	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	28	5474	-			1779					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5335C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.591237	0.00864	0.0	1.16E-4	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27890	1.78;1.64	5.89	1.98	0.26296	.	1.005170	0.07990	N	0.986933	T	0.21022	0.0506	L	0.44542	1.39	0.09310	N	1	P;B	0.34757	0.467;0.242	B;B	0.35353	0.201;0.021	T	0.18493	-1.0335	10	0.02654	T	1	3.5159	4.9524	0.14021	0.2291:0.0:0.6218:0.1491	.	1779;1779	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Y	1779;1758;1779	ENSP00000251119:H1779Y;ENSP00000450603:H1779Y	ENSP00000251119:H1779Y	H	-	1	0	ZFYVE26	67308666	1.000000	0.71417	0.004000	0.12327	0.300000	0.27592	2.614000	0.46359	0.089000	0.17243	0.655000	0.94253	CAT		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		8	3	0	0	0	1	0	8	3		
ZFYVE1	53349	broad.mit.edu	37	14	73444931	73444931	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:73444931C>T	ENST00000556143.1	-	7	2151	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	ZFYVE1_ENST00000318876.5_Silent_p.E477E|ZFYVE1_ENST00000554145.1_Intron|ZFYVE1_ENST00000394207.2_Silent_p.E62E|ZFYVE1_ENST00000555072.1_Silent_p.E62E|ZFYVE1_ENST00000553891.1_Silent_p.E477E	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	477					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCTCGCCTCTCTCATAGCAGG	0.463																																						uc001xnm.2		NaN																	0				skin(1)	1						c.(1429-1431)GAG>GAA		zinc finger, FYVE domain containing 1 isoform 1							85.0	83.0	83.0					14																	73444931		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73444931C>T	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1431G>A	14.37:g.73444931C>T						ZFYVE1_uc001xnl.2_Silent_p.E62E|ZFYVE1_uc010arj.2_Silent_p.E477E	p.E477E	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	7	2071	-		all_lung(585;1.33e-09)	477					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1431G>A	CCDS9811.1																																																																																				0.463	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1		NM_021260		22	18	0	0	0	1	0	22	18		
FOS	2353	broad.mit.edu	37	14	75747770	75747770	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:75747770G>T	ENST00000303562.4	+	4	995	c.786G>T	c.(784-786)atG>atT	p.M262I	FOS_ENST00000555347.1_Missense_Mutation_p.M114I|FOS_ENST00000535987.1_Missense_Mutation_p.M226I|FOS_ENST00000555686.1_Missense_Mutation_p.M148I	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	262					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	TCAGCAGCATGGAGCTGAAGA	0.597																																						uc001xrn.2		NaN																	0				lung(2)|ovary(1)	3						c.(784-786)ATG>ATT		v-fos FBJ murine osteosarcoma viral oncogene							71.0	67.0	68.0					14																	75747770		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747770G>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.786G>T	14.37:g.75747770G>T	ENSP00000306245:p.Met262Ile					FOS_uc010tva.1_Missense_Mutation_p.M226I|FOS_uc010asi.2_Missense_Mutation_p.M148I|FOS_uc001xro.2_Missense_Mutation_p.M114I	p.M262I	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	4	991	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	262					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.786G>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	9.364	1.068846	0.20147	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T	0.62498	0.62;1.05;0.02	5.22	5.22	0.72569	.	0.448816	0.26183	N	0.025859	T	0.49864	0.1582	N	0.19112	0.55	0.32960	D	0.520939	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52895	-0.8514	10	0.31617	T	0.26	-10.9838	18.7653	0.91869	0.0:0.0:1.0:0.0	.	226;262	B4DQ65;P01100	.;FOS_HUMAN	I	262;226;148;112;114	ENSP00000306245:M262I;ENSP00000442268:M226I;ENSP00000452590:M148I	ENSP00000306245:M262I	M	+	3	0	FOS	74817523	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	2.391000	0.44424	2.609000	0.88269	0.563000	0.77884	ATG		0.597	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1		NM_005252		37	28	1	0	3.62531e-18	1	3.80625e-18	37	28		
FLVCR2	55640	broad.mit.edu	37	14	76107307	76107307	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:76107307G>A	ENST00000238667.4	+	7	1601	c.1245G>A	c.(1243-1245)atG>atA	p.M415I	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.M130I|FLVCR2_ENST00000539311.1_Missense_Mutation_p.M210I	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	415					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCTTCTTTATGACTGGCTATC	0.522																																						uc001xrs.2		NaN																	0					0						c.(1243-1245)ATG>ATA		feline leukemia virus subgroup C cellular							103.0	96.0	99.0					14																	76107307		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76107307G>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1245G>A	14.37:g.76107307G>A	ENSP00000238667:p.Met415Ile					FLVCR2_uc010tvd.1_Missense_Mutation_p.M210I	p.M415I	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	7	1621	+			415			Helical; (Potential).		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.1245G>A	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744455	0.69418	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000554580;ENST00000555027	T;T;T;T;T	0.57907	0.43;0.43;0.37;0.37;0.37	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.034949	0.85682	D	0.000000	T	0.66167	0.2762	M	0.82433	2.59	0.80722	D	1	B;B	0.23540	0.078;0.087	B;B	0.40940	0.344;0.158	T	0.62539	-0.6833	10	0.18710	T	0.47	-12.5534	18.0368	0.89307	0.0:0.0:1.0:0.0	.	210;415	B7Z485;Q9UPI3	.;FLVC2_HUMAN	I	415;210;116;115;130	ENSP00000238667:M415I;ENSP00000443439:M210I;ENSP00000452584:M116I;ENSP00000451781:M115I;ENSP00000452453:M130I	ENSP00000238667:M415I	M	+	3	0	AC007182.1	75177060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	2.554000	0.86153	0.655000	0.94253	ATG		0.522	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1		NM_017791		14	20	0	0	0	1	0	14	20		
ADCK1	57143	broad.mit.edu	37	14	78325484	78325484	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:78325484G>A	ENST00000238561.5	+	4	384	c.285G>A	c.(283-285)aaG>aaA	p.K95K	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	102						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCTTCATCAAGGTGGGCCAGC	0.617																																						uc001xui.2		NaN																	0				stomach(2)|ovary(1)	3						c.(283-285)AAG>AAA		aarF domain containing kinase 1 isoform a							79.0	78.0	78.0					14																	78325484		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78325484G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.285G>A	14.37:g.78325484G>A						ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR	p.K95K	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	4	384	+			102					B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.285G>A	CCDS9869.1																																																																																				0.617	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1		NM_020421		28	27	0	0	0	1	0	28	27		
PTPN21	11099	broad.mit.edu	37	14	88974366	88974366	+	Splice_Site	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:88974366T>C	ENST00000556564.1	-	4	635		c.e4-2		PTPN21_ENST00000554628.1_Splice_Site|PTPN21_ENST00000328736.3_Splice_Site|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TACTGATACCTATAAAAAATG	0.338																																						uc001xwv.3		NaN																	0				ovary(3)|skin(1)	4						c.e4-1		protein tyrosine phosphatase, non-receptor type							64.0	62.0	62.0					14																	88974366		2201	4299	6500	SO:0001630	splice_region_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88974366T>C	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.351-2A>G	14.37:g.88974366T>C						PTPN21_uc010twc.1_Splice_Site|PTPN21_uc010atf.1_Splice_Site_p.R117_splice	p.R117_splice	NM_007039	NP_008970	Q16825	PTN21_HUMAN			4	682	-									Splice_Site	SNP	ENST00000556564.1	37	c.351_splice	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818587	0.71028	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3574	0.74437	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN21	88044119	1.000000	0.71417	0.957000	0.39632	0.866000	0.49608	8.040000	0.89188	2.022000	0.59522	0.482000	0.46254	.		0.338	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			Intron	10	6	0	0	0	1	0	10	6		
CCDC88C	440193	broad.mit.edu	37	14	91806270	91806270	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:91806270G>A	ENST00000389857.6	-	7	668	c.582C>T	c.(580-582)ctC>ctT	p.L194L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	194					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCGCAGGTGGAGCACCATGC	0.662																																						uc010aty.2		NaN																	0				ovary(3)	3						c.(580-582)CTC>CTT		DVL-binding protein DAPLE							13.0	17.0	16.0					14																	91806270		2038	4175	6213	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91806270G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.582C>T	14.37:g.91806270G>A						CCDC88C_uc010twk.1_Silent_p.L158L	p.L194L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			7	681	-		all_cancers(154;0.0468)	194					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.582C>T	CCDS45151.1																																																																																				0.662	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1		XM_029353		6	2	0	0	0	1	0	6	2		
EXD1	161829	broad.mit.edu	37	15	41482260	41482260	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:41482260C>T	ENST00000314992.5	-	9	947	c.757G>A	c.(757-759)Gct>Act	p.A253T	EXD1_ENST00000458580.2_Missense_Mutation_p.A311T|RN7SL497P_ENST00000476341.2_RNA	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	253							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AGGTAGGTAGCTTCCAGGGCC	0.463																																						uc001znk.2		NaN																	0				ovary(1)	1						c.(757-759)GCT>ACT		exonuclease 3'-5' domain containing 1							142.0	139.0	140.0					15																	41482260		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41482260C>T	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.757G>A	15.37:g.41482260C>T	ENSP00000321029:p.Ala253Thr					EXD1_uc001znj.2_Missense_Mutation_p.A51T|EXD1_uc010ucv.1_Missense_Mutation_p.A311T	p.A253T	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			9	948	-			253					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.757G>A	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135483	0.37728	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.44083	0.93;0.93	6.17	0.504	0.16946	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.663319	0.14974	N	0.287660	T	0.17152	0.0412	N	0.11255	0.115	0.25690	N	0.985707	B;B;B	0.31193	0.028;0.022;0.312	B;B;B	0.25884	0.052;0.038;0.064	T	0.26883	-1.0090	10	0.02654	T	1	-2.8519	10.4768	0.44670	0.0:0.5496:0.0:0.4504	.	311;253;51	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	T	253;311	ENSP00000321029:A253T;ENSP00000415056:A311T	ENSP00000321029:A253T	A	-	1	0	EXD1	39269552	0.883000	0.30277	0.997000	0.53966	0.984000	0.73092	0.357000	0.20199	0.174000	0.19809	-0.136000	0.14681	GCT		0.463	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2		NM_152596		37	12	0	0	0	1	0	37	12		
PLA2G4F	255189	broad.mit.edu	37	15	42434263	42434263	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:42434263G>A	ENST00000382396.4	-	20	2555	c.2469C>T	c.(2467-2469)gtC>gtT	p.V823V	PLA2G4F_ENST00000397272.3_Silent_p.V825V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	823	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CGTTGTTCAGGACGTTGTATC	0.597																																						uc001zoz.2		NaN																	0				ovary(4)	4						c.(2467-2469)GTC>GTT		phospholipase A2, group IVF							80.0	74.0	76.0					15																	42434263		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434263G>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2469C>T	15.37:g.42434263G>A						PLA2G4F_uc010bcq.2_Silent_p.V120V|PLA2G4F_uc001zoy.2_Silent_p.V455V|PLA2G4F_uc010bcr.2_Silent_p.V574V|PLA2G4F_uc001zpa.2_Silent_p.V574V|PLA2G4F_uc010bcs.2_Silent_p.V610V	p.V823V	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	20	2532	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	823			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.2469C>T	CCDS32204.1																																																																																				0.597	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1		NM_213600		25	13	0	0	0	1	0	25	13		
SPG11	80208	broad.mit.edu	37	15	44876484	44876484	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:44876484C>G	ENST00000261866.7	-	30	5410	c.5394G>C	c.(5392-5394)gaG>gaC	p.E1798D	SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000535302.2_Missense_Mutation_p.E1798D|SPG11_ENST00000558319.1_Missense_Mutation_p.E1798D|SPG11_ENST00000427534.2_Missense_Mutation_p.E1798D	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1798					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGATCTGCTTCTCCAGCTCCT	0.567																																						uc001ztx.2		NaN																	0				ovary(4)|skin(1)	5						c.(5392-5394)GAG>GAC		spatacsin isoform 1							69.0	66.0	67.0					15																	44876484		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876484C>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5394G>C	15.37:g.44876484C>G	ENSP00000261866:p.Glu1798Asp					SPG11_uc010bdw.2_Missense_Mutation_p.E87D|SPG11_uc010ueh.1_Missense_Mutation_p.E1798D|SPG11_uc010uei.1_Missense_Mutation_p.E1798D|SPG11_uc001zty.1_Missense_Mutation_p.E527D	p.E1798D	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5425	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1798			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5394G>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789086	0.70337	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;D;T	0.83591	-1.74;-1.5;-1.47	5.8	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.89836	0.6830	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.998	D	0.89874	0.4025	10	0.66056	D	0.02	.	12.5878	0.56426	0.0:0.866:0.0:0.134	.	1798;1798;1798;1798	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	D	1798	ENSP00000261866:E1798D;ENSP00000445278:E1798D;ENSP00000396110:E1798D	ENSP00000261866:E1798D	E	-	3	2	SPG11	42663776	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.539000	0.45718	0.820000	0.34516	-0.222000	0.12452	GAG		0.567	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1				16	18	0	0	0	1	0	16	18		
SNX22	79856	broad.mit.edu	37	15	64445876	64445876	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:64445876G>A	ENST00000325881.4	+	5	444	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	129					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						CCTGCCTGGCGACAGCAGGCA	0.647											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002anc.1		NaN																	0					0						c.(385-387)GAC>AAC		sorting nexin 22							42.0	43.0	43.0					15																	64445876		2203	4300	6503	SO:0001583	missense	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64445876G>A	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.385G>A	15.37:g.64445876G>A	ENSP00000323435:p.Asp129Asn		OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	SNX22_uc002amz.1_Missense_Mutation_p.D101N|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	p.D129N	NM_024798	NP_079074	Q96L94	SNX22_HUMAN			5	444	+			129					Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	c.385G>A	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928608	0.34002	.	.	ENSG00000157734	ENST00000380278;ENST00000325881	T	0.79033	-1.23	5.4	-1.2	0.09554	.	0.976717	0.08467	N	0.941606	T	0.66684	0.2814	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.47674	-0.9099	10	0.27082	T	0.32	-10.932	4.6362	0.12525	0.4769:0.3229:0.2001:0.0	.	129;101	Q96L94;Q6ZTF9	SNX22_HUMAN;.	N	101;129	ENSP00000323435:D129N	ENSP00000323435:D129N	D	+	1	0	SNX22	62232929	0.000000	0.05858	0.010000	0.14722	0.617000	0.37484	0.005000	0.13129	-0.439000	0.07222	0.491000	0.48974	GAC		0.647	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2		NM_024798		21	16	0	0	0	1	0	21	16		
DPP8	54878	broad.mit.edu	37	15	65759415	65759415	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:65759415G>A	ENST00000341861.5	-	13	3311	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	DPP8_ENST00000300141.6_Silent_p.I561I|DPP8_ENST00000559233.1_Silent_p.I577I|DPP8_ENST00000321147.6_Silent_p.I577I|DPP8_ENST00000358939.4_Silent_p.I561I|DPP8_ENST00000321118.7_Silent_p.I577I|DPP8_ENST00000339244.5_Silent_p.I404I	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	577					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATACCTGACTGATGCAGCAAG	0.408																																						uc002aov.2		NaN																	0				ovary(1)	1						c.(1729-1731)ATC>ATT		dipeptidyl peptidase 8 isoform 1							91.0	80.0	84.0					15																	65759415		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65759415G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1731C>T	15.37:g.65759415G>A						DPP8_uc002aow.2_Silent_p.I577I|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.I561I|DPP8_uc002aoy.2_Silent_p.I577I|DPP8_uc002aoz.2_Silent_p.I561I|DPP8_uc010bhj.2_Silent_p.I577I|DPP8_uc002apa.2_Silent_p.I474I|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Silent_p.I146I	p.I577I	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			13	3309	-			577					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.1731C>T	CCDS10207.1																																																																																				0.408	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1		NM_017743		12	11	0	0	0	1	0	12	11		
MYO9A	4649	broad.mit.edu	37	15	72186109	72186109	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:72186109C>T	ENST00000356056.5	-	26	5525	c.5053G>A	c.(5053-5055)Gaa>Aaa	p.E1685K	MYO9A_ENST00000424560.1_Missense_Mutation_p.E1685K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1666K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1685K|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1685	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTAAGGCTTCTTTGCTGACA	0.378																																						uc002atl.3		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5053-5055)GAA>AAA		myosin IXA							101.0	95.0	97.0					15																	72186109		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72186109C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5053G>A	15.37:g.72186109C>T	ENSP00000348349:p.Glu1685Lys					MYO9A_uc002atn.1_Missense_Mutation_p.E1666K|MYO9A_uc002atk.2_Missense_Mutation_p.E409K|MYO9A_uc002atm.1_Missense_Mutation_p.E409K	p.E1685K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			26	5526	-			1685			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.5053G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999653	0.74818	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85861	-2.02;-2.04;-2.02	5.25	5.25	0.73442	.	.	.	.	.	D	0.87505	0.6194	L	0.27053	0.805	0.42333	D	0.992307	D;P	0.76494	0.999;0.816	D;B	0.83275	0.996;0.175	D	0.86794	0.1987	9	0.33940	T	0.23	.	17.0245	0.86442	0.0:1.0:0.0:0.0	.	1685;1685	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	K	1685;1685;1666	ENSP00000348349:E1685K;ENSP00000399162:E1685K;ENSP00000398250:E1666K	ENSP00000348349:E1685K	E	-	1	0	MYO9A	69973163	0.996000	0.38824	0.979000	0.43373	0.946000	0.59487	3.122000	0.50446	2.433000	0.82419	0.650000	0.86243	GAA		0.378	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		11	10	0	0	0	1	0	11	10		
CSK	1445	broad.mit.edu	37	15	75091647	75091647	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:75091647G>A	ENST00000220003.9	+	5	1006	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CSK_ENST00000567571.1_Missense_Mutation_p.E93K|CSK_ENST00000439220.2_Missense_Mutation_p.E93K|CSK_ENST00000309470.9_Missense_Mutation_p.E93K	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	93	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						GGAGCAGGCTGAGCGGCTTCT	0.632																																						uc010bkb.1		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(277-279)GAG>AAG		c-src tyrosine kinase							53.0	51.0	52.0					15																	75091647		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75091647G>A		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.277G>A	15.37:g.75091647G>A	ENSP00000220003:p.Glu93Lys					CSK_uc002ays.2_Missense_Mutation_p.E93K|CSK_uc010bkc.1_5'UTR	p.E93K	NM_001127190	NP_001120662	P41240	CSK_HUMAN			6	460	+			93			SH2.		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.277G>A	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393567	0.96009	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	T;T;T	0.36157	1.27;1.27;1.27	4.63	4.63	0.57726	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77645	-0.2510	10	0.87932	D	0	-32.0548	17.2555	0.87055	0.0:0.0:1.0:0.0	.	93	P41240	CSK_HUMAN	K	93	ENSP00000220003:E93K;ENSP00000414764:E93K;ENSP00000438808:E93K	ENSP00000220003:E93K	E	+	1	0	CSK	72878700	1.000000	0.71417	0.977000	0.42913	0.798000	0.45092	9.105000	0.94246	2.410000	0.81850	0.491000	0.48974	GAG		0.632	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2		NM_004383		11	16	0	0	0	1	0	11	16		
ADAMTS7	11173	broad.mit.edu	37	15	79063930	79063930	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:79063930G>A	ENST00000388820.4	-	15	2583	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	791	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGCACCTGGATCCAGACAG	0.687																																						uc002bej.3		NaN																	0					0						c.(2371-2373)ATC>ATT		ADAM metallopeptidase with thrombospondin type 1							13.0	15.0	14.0					15																	79063930		2159	4186	6345	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79063930G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2373C>T	15.37:g.79063930G>A						ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.I791I	p.I791I	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			15	2584	-			791			Spacer.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.2373C>T	CCDS32303.1																																																																																				0.687	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1		NM_014272		7	4	0	0	0	1	0	7	4		
ACAN	176	broad.mit.edu	37	15	89386642	89386642	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:89386642G>A	ENST00000561243.1	+	5	814	c.814G>A	c.(814-816)Gag>Aag	p.E272K	ACAN_ENST00000352105.7_Missense_Mutation_p.E272K|ACAN_ENST00000558207.1_Missense_Mutation_p.E272K|ACAN_ENST00000439576.2_Missense_Mutation_p.E272K|ACAN_ENST00000559004.1_Missense_Mutation_p.E272K			P16112	PGCA_HUMAN	aggrecan	272	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCAGCCAATGAGTGCCGGCG	0.642																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(814-816)GAG>AAG		aggrecan isoform 2 precursor							20.0	23.0	22.0					15																	89386642		1926	4145	6071	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386642G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.814G>A	15.37:g.89386642G>A	ENSP00000453342:p.Glu272Lys					ACAN_uc002bmx.2_Missense_Mutation_p.E272K|ACAN_uc010upp.1_Missense_Mutation_p.E272K|ACAN_uc002bna.2_RNA	p.E272K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1188	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		272					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.814G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948575	0.53186	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09350	2.99;2.99	5.56	5.56	0.83823	.	0.000000	0.33057	N	0.005326	T	0.05914	0.0154	N	0.12746	0.255	0.33180	D	0.549457	P;P;B	0.43788	0.817;0.817;0.008	B;B;B	0.40534	0.332;0.332;0.026	T	0.22626	-1.0211	10	0.24483	T	0.36	-21.9171	7.5865	0.27995	0.0899:0.1688:0.7412:0.0	.	272;272;272	E7ENV9;E7EX88;Q6PID9	.;.;.	K	272	ENSP00000387356:E272K;ENSP00000341615:E272K	ENSP00000268134:E272K	E	+	1	0	ACAN	87187646	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	3.470000	0.53100	2.626000	0.88956	0.650000	0.86243	GAG		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		12	11	0	0	0	1	0	12	11		
TICRR	90381	broad.mit.edu	37	15	90119460	90119460	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:90119460G>A	ENST00000268138.7	+	1	748	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TICRR_ENST00000560985.1_Missense_Mutation_p.E215K|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	215					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGATACCACCGAATGGTCTAA	0.542																																						uc002boe.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(643-645)GAA>AAA		leucine-rich repeat kinase 1							26.0	27.0	27.0					15																	90119460		2057	4197	6254	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90119460G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.643G>A	15.37:g.90119460G>A	ENSP00000268138:p.Glu215Lys						p.E215K	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		1	643	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		215					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.643G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959864	0.53400	.	.	ENSG00000140534	ENST00000268138	T	0.21361	2.01	3.94	3.94	0.45596	.	0.238543	0.34386	N	0.004015	T	0.38348	0.1037	L	0.56769	1.78	0.29473	N	0.856917	D	0.69078	0.997	P	0.60789	0.879	T	0.23511	-1.0186	10	0.39692	T	0.17	-13.8188	16.1716	0.81820	0.0:0.0:1.0:0.0	.	215	Q7Z2Z1	TICRR_HUMAN	K	215	ENSP00000268138:E215K	ENSP00000268138:E215K	E	+	1	0	C15orf42	87920464	1.000000	0.71417	0.962000	0.40283	0.297000	0.27493	4.521000	0.60532	2.014000	0.59158	0.467000	0.42956	GAA		0.542	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259		10	11	0	0	0	1	0	10	11		
CIB1	10519	broad.mit.edu	37	15	90774617	90774617	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:90774617G>A	ENST00000328649.6	-	4	479	c.318C>T	c.(316-318)atC>atT	p.I106I	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	106	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.		I -> T (in dbSNP:rs11551250).		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AATGGGACTTGATGTCTGGCG	0.572																																						uc002bpb.3		NaN																	0					0						c.(316-318)ATC>ATT		calcium and integrin binding 1							109.0	90.0	96.0					15																	90774617		2199	4298	6497	SO:0001819	synonymous_variant	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774617G>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.318C>T	15.37:g.90774617G>A						C15orf58_uc002bpc.2_5'Flank	p.I106I	NM_006384	NP_006375	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	480	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		106			EF-hand 1.		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Silent	SNP	ENST00000328649.6	37	c.318C>T	CCDS10360.1																																																																																				0.572	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1				14	12	0	0	0	1	0	14	12		
LINS	55180	broad.mit.edu	37	15	101109805	101109805	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:101109805C>G	ENST00000314742.8	-	7	2134	c.1912G>C	c.(1912-1914)Gaa>Caa	p.E638Q	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	638										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTGTGGATTCCACGTCAGAA	0.493																																						uc002bwe.2		NaN																	0					0						c.(1912-1914)GAA>CAA		lines homolog 1							102.0	100.0	101.0					15																	101109805		2203	4300	6503	SO:0001583	missense	55180							g.chr15:101109805C>G	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1912G>C	15.37:g.101109805C>G	ENSP00000318423:p.Glu638Gln					LINS1_uc002bwd.2_Missense_Mutation_p.E225Q|LINS1_uc002bwf.2_Missense_Mutation_p.E638Q|LINS1_uc002bwg.2_Missense_Mutation_p.E638Q|LINS1_uc002bwh.2_Missense_Mutation_p.E638Q	p.E638Q	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	2203	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		638					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.1912G>C	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094145	0.56075	.	.	ENSG00000140471	ENST00000314742	T	0.26373	1.74	5.48	5.48	0.80851	.	0.146529	0.46442	D	0.000281	T	0.50274	0.1606	M	0.68952	2.095	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	T	0.50004	-0.8878	10	0.66056	D	0.02	-7.4459	19.3667	0.94466	0.0:1.0:0.0:0.0	.	638	Q8NG48	LINES_HUMAN	Q	638	ENSP00000318423:E638Q	ENSP00000318423:E638Q	E	-	1	0	LINS	98927328	0.999000	0.42202	0.033000	0.17914	0.175000	0.22909	5.610000	0.67668	2.578000	0.87016	0.591000	0.81541	GAA		0.493	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1		NM_018148		40	24	0	0	0	1	0	40	24		
SRRM2	23524	broad.mit.edu	37	16	2812478	2812478	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:2812478G>A	ENST00000301740.8	+	11	2498	c.1949G>A	c.(1948-1950)aGa>aAa	p.R650K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	650	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACGCTCTAGAACCCCAGCT	0.612																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1948-1950)AGA>AAA		splicing coactivator subunit SRm300							82.0	83.0	82.0					16																	2812478		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812478G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1949G>A	16.37:g.2812478G>A	ENSP00000301740:p.Arg650Lys					SRRM2_uc002crj.1_Missense_Mutation_p.R554K|SRRM2_uc002crl.1_Missense_Mutation_p.R650K|SRRM2_uc010bsu.1_Missense_Mutation_p.R554K	p.R650K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2498	+			650			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1949G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274200	0.40194	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.26067	1.76	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.38026	0.1025	L	0.27053	0.805	0.37768	D	0.926563	D	0.58970	0.984	D	0.68192	0.956	T	0.12016	-1.0564	10	0.32370	T	0.25	-11.8354	17.4882	0.87694	0.0:0.0:1.0:0.0	.	650	Q9UQ35	SRRM2_HUMAN	K	650;650;615	ENSP00000301740:R650K	ENSP00000301740:R650K	R	+	2	0	SRRM2	2752479	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.911000	0.48774	2.733000	0.93635	0.563000	0.77884	AGA		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				34	51	0	0	0	1	0	34	51		
ZNF263	10127	broad.mit.edu	37	16	3340089	3340089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:3340089C>T	ENST00000219069.5	+	6	2459	c.1583C>T	c.(1582-1584)tCt>tTt	p.S528F	ZNF263_ENST00000538765.1_Missense_Mutation_p.S176F	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	528					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAAAGTTTCTCTCGGAGTTCA	0.507																																						uc002cuq.2		NaN																	0				skin(3)|ovary(1)	4						c.(1582-1584)TCT>TTT		zinc finger protein 263							44.0	43.0	43.0					16																	3340089		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3340089C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1583C>T	16.37:g.3340089C>T	ENSP00000219069:p.Ser528Phe					ZNF263_uc010uww.1_Missense_Mutation_p.S176F|ZNF263_uc002cur.2_Missense_Mutation_p.S176F	p.S528F	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1915	+			528			C2H2-type 5.		B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1583C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314338	0.60414	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.20200	2.09;2.09	5.85	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000028	T	0.46795	0.1411	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.41980	-0.9478	10	0.66056	D	0.02	.	14.5115	0.67791	0.0:0.8524:0.1476:0.0	.	528	O14978	ZN263_HUMAN	F	176;528	ENSP00000444497:S176F;ENSP00000219069:S528F	ENSP00000219069:S528F	S	+	2	0	ZNF263	3280090	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.174000	0.09839	2.941000	0.99782	0.655000	0.94253	TCT		0.507	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2				10	34	0	0	0	1	0	10	34		
ERCC4	2072	broad.mit.edu	37	16	14042169	14042169	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:14042169G>C	ENST00000311895.7	+	11	2725	c.2716G>C	c.(2716-2718)Gca>Cca	p.A906P		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	906					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CACCTCTTTTGCAGAAGTCGT	0.448			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2		NaN	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2716-2718)GCA>CCA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							94.0	95.0	94.0					16																	14042169		2196	4299	6495	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14042169G>C	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2716G>C	16.37:g.14042169G>C	ENSP00000310520:p.Ala906Pro					ERCC4_uc010uyz.1_Missense_Mutation_p.A456P	p.A906P	NM_005236	NP_005227	Q92889	XPF_HUMAN			11	2725	+			906			Interaction with EME1 and ERCC1.		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.2716G>C	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925186	0.52759	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.14391	2.51	6.16	3.13	0.36017	RuvA domain 2-like (1);	0.292008	0.39146	N	0.001447	T	0.07638	0.0192	N	0.25144	0.715	0.09310	N	0.999999	P	0.43169	0.8	B	0.38562	0.276	T	0.25606	-1.0127	10	0.27082	T	0.32	-14.2295	5.9114	0.19031	0.2761:0.1305:0.5935:0.0	.	906	Q92889	XPF_HUMAN	P	906;894	ENSP00000310520:A906P	ENSP00000310520:A906P	A	+	1	0	ERCC4	13949670	0.003000	0.15002	0.008000	0.14137	0.057000	0.15508	1.128000	0.31369	0.462000	0.27095	0.650000	0.86243	GCA		0.448	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2		NM_005236		35	58	0	0	0	1	0	35	58		
BFAR	51283	broad.mit.edu	37	16	14738279	14738279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:14738279C>T	ENST00000261658.2	+	2	353	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	BFAR_ENST00000563971.1_Nonsense_Mutation_p.Q26*|RNU7-125P_ENST00000458760.1_RNA|BFAR_ENST00000426842.2_5'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	26					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CACCGGCCCTCAGATTTCTGT	0.493																																						uc002dco.2		NaN																	0				ovary(1)|skin(1)	2						c.(76-78)CAG>TAG		bifunctional apoptosis regulator							131.0	130.0	131.0					16																	14738279		2197	4300	6497	SO:0001587	stop_gained	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14738279C>T	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.76C>T	16.37:g.14738279C>T	ENSP00000261658:p.Gln26*					BFAR_uc002dcm.2_Nonsense_Mutation_p.Q26*|BFAR_uc002dcn.2_Nonsense_Mutation_p.Q26*|BFAR_uc002dcp.2_Nonsense_Mutation_p.Q26*|BFAR_uc010uzh.1_5'UTR	p.Q26*	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN			2	357	+			26			Cytoplasmic (Potential).		A8K4Z9|B4DUT0|D3DUG8	Nonsense_Mutation	SNP	ENST00000261658.2	37	c.76C>T	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543737	0.96474	.	.	ENSG00000103429	ENST00000261658	.	.	.	5.91	5.91	0.95273	.	0.452632	0.25848	N	0.027911	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	14.1466	0.65355	0.1499:0.8501:0.0:0.0	.	.	.	.	X	26	.	ENSP00000261658:Q26X	Q	+	1	0	BFAR	14645780	0.882000	0.30256	1.000000	0.80357	0.899000	0.52679	1.274000	0.33132	2.797000	0.96272	0.655000	0.94253	CAG		0.493	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1		NM_016561		40	63	0	0	0	1	0	40	63		
C16orf62	57020	broad.mit.edu	37	16	19619564	19619564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:19619564G>C	ENST00000251143.5	+	10	861	c.849G>C	c.(847-849)aaG>aaC	p.K283N	C16orf62_ENST00000448695.1_Missense_Mutation_p.K133N|C16orf62_ENST00000543152.1_Missense_Mutation_p.K32N|C16orf62_ENST00000417362.2_Missense_Mutation_p.K283N|C16orf62_ENST00000542263.1_Missense_Mutation_p.K372N|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000438132.3_Missense_Mutation_p.K372N			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	283						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGTTTTTCAAGATTGCCTCCA	0.353																																						uc002dgn.1		NaN																	0				ovary(1)	1						c.(847-849)AAG>AAC		hypothetical protein LOC57020							151.0	141.0	144.0					16																	19619564		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19619564G>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.849G>C	16.37:g.19619564G>C	ENSP00000251143:p.Lys283Asn					C16orf62_uc002dgo.1_Missense_Mutation_p.K283N|C16orf62_uc002dgp.1_Missense_Mutation_p.K32N|C16orf62_uc010vas.1_Missense_Mutation_p.K157N|C16orf62_uc002dgm.1_Missense_Mutation_p.K283N	p.K283N	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			10	861	+			283					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.849G>C		.	.	.	.	.	.	.	.	.	.	G	23.0	4.357995	0.82243	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	M	0.87269	2.87	0.80722	D	1	D;P;D;D	0.89917	0.995;0.827;1.0;1.0	D;B;D;D	0.91635	0.951;0.429;0.996;0.999	D	0.89992	0.4108	10	0.87932	D	0	-31.0602	19.3423	0.94349	0.0:0.0:1.0:0.0	.	283;372;283;372	B3KT69;F5H7K1;Q7Z3J2;E7EWW0	.;.;CP062_HUMAN;.	N	372;372;283;283;133	ENSP00000400815:K372N;ENSP00000442468:K372N;ENSP00000251143:K283N;ENSP00000395973:K283N;ENSP00000398009:K133N	ENSP00000251143:K283N	K	+	3	2	C16orf62	19527065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.203000	0.65174	2.668000	0.90789	0.655000	0.94253	AAG		0.353	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_020314		23	52	0	0	0	1	0	23	52		
LOC81691	81691	broad.mit.edu	37	16	20837242	20837242	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:20837242G>A	ENST00000261377.6	+	8	1002	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.E265K|AC004381.6_ENST00000564274.1_Missense_Mutation_p.E265K	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GGTCAAACCTGAAAACAAGAT	0.473																																						uc002dhv.2		NaN																	0				ovary(1)|kidney(1)	2						c.(793-795)GAA>AAA		exonuclease NEF-sp isoform 1							199.0	161.0	174.0					16																	20837242		2201	4300	6501	SO:0001583	missense	81691					nucleolus	exonuclease activity|nucleotide binding|RNA binding	g.chr16:20837242G>A																												ENST00000261377.6:c.793G>A	16.37:g.20837242G>A	ENSP00000261377:p.Glu265Lys					ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.E265K|LOC81691_uc002dhw.2_Missense_Mutation_p.E8K|LOC81691_uc002dhy.3_Missense_Mutation_p.E265K	p.E265K	NM_030941	NP_112203	Q96IC2	REXON_HUMAN			8	1056	+			265			Exonuclease.			Missense_Mutation	SNP	ENST00000261377.6	37	c.793G>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541795	0.65198	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.31510	1.49;1.49	5.41	5.41	0.78517	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.325996	0.37012	N	0.002300	T	0.22589	0.0545	N	0.21545	0.675	0.33337	D	0.569348	B;B	0.20459	0.045;0.01	B;B	0.24155	0.019;0.051	T	0.20672	-1.0268	10	0.42905	T	0.14	-13.7863	12.1482	0.54036	0.0825:0.0:0.9175:0.0	.	265;265	Q96IC2-2;Q96IC2	.;REXON_HUMAN	K	265	ENSP00000261378:E265K;ENSP00000261377:E265K	ENSP00000261377:E265K	E	+	1	0	AC004381.6	20744743	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	4.215000	0.58534	2.524000	0.85096	0.655000	0.94253	GAA		0.473	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2				5	13	0	0	0	1	0	5	13		
CRYM	1428	broad.mit.edu	37	16	21272618	21272618	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:21272618C>T	ENST00000219599.3	-	9	1102	c.837G>A	c.(835-837)gtG>gtA	p.V279V	CRYM_ENST00000396023.2_Silent_p.V279V|CRYM_ENST00000415987.2_Silent_p.V237V|CRYM_ENST00000543948.1_Silent_p.V279V	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	279					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		GGGCTGGTTTCACTCCCTTAA	0.517																																						uc002dik.2		NaN																	0					0						c.(835-837)GTG>GTA		crystallin, mu isoform 1	Levothyroxine(DB00451)						151.0	123.0	132.0					16																	21272618		2199	4300	6499	SO:0001819	synonymous_variant	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21272618C>T		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.837G>A	16.37:g.21272618C>T						CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.V237V|CRYM_uc002dim.2_Silent_p.V279V	p.V279V	NM_001888	NP_001879	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	7	922	-			279					D5MNX0|Q5HYB7	Silent	SNP	ENST00000219599.3	37	c.837G>A	CCDS10597.1																																																																																				0.517	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1				14	26	0	0	0	1	0	14	26		
OTOA	146183	broad.mit.edu	37	16	21721355	21721355	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:21721355C>T	ENST00000286149.4	+	12	1294	c.1293C>T	c.(1291-1293)ctC>ctT	p.L431L	OTOA_ENST00000388957.3_Silent_p.L93L|OTOA_ENST00000388956.4_Silent_p.L338L|OTOA_ENST00000388958.3_Silent_p.L417L			Q7RTW8	OTOAN_HUMAN	otoancorin	431					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCTCCACCCTCAACCAGGTCT	0.517																																						uc002djh.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1249-1251)CTC>CTT		otoancorin isoform 1							73.0	60.0	64.0					16																	21721355		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21721355C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1293C>T	16.37:g.21721355C>T						uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.L338L|OTOA_uc002dji.2_Silent_p.L93L|OTOA_uc010vbk.1_Silent_p.L65L	p.L417L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1252	+			431					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.1251C>T																																																																																					0.517	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1				13	23	0	0	0	1	0	13	23		
HS3ST2	9956	broad.mit.edu	37	16	22826363	22826363	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:22826363C>T	ENST00000261374.3	+	1	866	c.432C>T	c.(430-432)ggC>ggT	p.G144G		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	144					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGCCTTGGGCACGGAACCCC	0.647																																						uc002dli.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(430-432)GGC>GGT		heparan sulfate D-glucosaminyl							20.0	24.0	23.0					16																	22826363		2161	4237	6398	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826363C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.432C>T	16.37:g.22826363C>T						HS3ST2_uc002dlj.2_RNA	p.G144G	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	504	+			144			Lumenal (Potential).		Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.432C>T	CCDS10606.1																																																																																				0.647	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1		NM_006043		10	16	0	0	0	1	0	10	16		
COG7	91949	broad.mit.edu	37	16	23400346	23400346	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:23400346G>A	ENST00000307149.5	-	17	2393	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	736					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTAGCGTCACGATGTGCTGGA	0.617																																						uc002dlo.2		NaN																	0					0						c.(2206-2208)ATC>ATT		component of oligomeric golgi complex 7							87.0	69.0	75.0					16																	23400346		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23400346G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2208C>T	16.37:g.23400346G>A							p.I736I	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2396	-			736					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.2208C>T	CCDS10610.1																																																																																				0.617	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1				16	17	0	0	0	1	0	16	17		
KIAA0556	23247	broad.mit.edu	37	16	27751476	27751476	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:27751476G>A	ENST00000261588.4	+	15	1877	c.1858G>A	c.(1858-1860)Gac>Aac	p.D620N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	620						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CATCCTGGTTGACCAGAAGAA	0.527																																						uc002dow.2		NaN																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1858-1860)GAC>AAC		hypothetical protein LOC23247							92.0	89.0	90.0					16																	27751476		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751476G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1858G>A	16.37:g.27751476G>A	ENSP00000261588:p.Asp620Asn						p.D620N	NM_015202	NP_056017	O60303	K0556_HUMAN			15	1882	+			620			Potential.		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1858G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090371	0.36855	.	.	ENSG00000047578	ENST00000261588	T	0.12672	2.66	5.39	-0.124	0.13523	.	0.754759	0.12616	N	0.453480	T	0.09555	0.0235	L	0.38838	1.175	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30446	-0.9978	10	0.37606	T	0.19	-3.7566	5.7715	0.18255	0.2748:0.2432:0.482:0.0	.	620	O60303	K0556_HUMAN	N	620	ENSP00000261588:D620N	ENSP00000261588:D620N	D	+	1	0	KIAA0556	27658977	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.944000	0.29043	-0.009000	0.14296	-0.140000	0.14226	GAC		0.527	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1		NM_015202		27	66	0	0	0	1	0	27	66		
SH2B1	25970	broad.mit.edu	37	16	28857543	28857543	+	5'Flank	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:28857543G>A	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Silent_p.F16F			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACTCACCGCTGAAGTGGGGCG	0.687																																						uc002drh.2		NaN																	0				ovary(1)	1						c.(46-48)TTC>TTT		Tu translation elongation factor, mitochondrial							15.0	17.0	17.0					16																	28857543		2159	4255	6414	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28857543G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28857543G>A	Exception_encountered					uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	p.F16F	NM_003321	NP_003312	P49411	EFTU_HUMAN			1	187	-			13					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.48C>T	CCDS53996.1																																																																																				0.687	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503		3	6	0	0	0	1	0	3	6		
INO80E	283899	broad.mit.edu	37	16	30012320	30012320	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:30012320C>T	ENST00000563197.1	+	5	1372	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	INO80E_ENST00000567705.1_Missense_Mutation_p.P119S|INO80E_ENST00000567254.1_Missense_Mutation_p.P119S|INO80E_ENST00000304516.7_Missense_Mutation_p.P119S	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	119	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						AACAGGGTTTCCCCTTCAGGC	0.637																																						uc002dvg.1		NaN																	0				skin(1)	1						c.(355-357)CCC>TCC		INO80 complex subunit E							38.0	41.0	40.0					16																	30012320		2197	4300	6497	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30012320C>T	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.355C>T	16.37:g.30012320C>T	ENSP00000457016:p.Pro119Ser					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.P119S|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Missense_Mutation_p.P119S	p.P119S	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN			5	456	+			119			Pro-rich.		Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.355C>T	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884634	0.51908	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.58	5.58	0.84498	.	0.133231	0.52532	D	0.000076	T	0.52435	0.1734	L	0.40543	1.245	0.40418	D	0.979819	B;B;D	0.54964	0.034;0.376;0.969	B;B;P	0.51945	0.008;0.071;0.685	T	0.52335	-0.8589	9	0.42905	T	0.14	-16.1183	10.4944	0.44768	0.0:0.9118:0.0:0.0882	.	143;119;119	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	S	119;143;119	.	ENSP00000303977:P119S	P	+	1	0	INO80E	29919821	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.473000	0.35387	2.636000	0.89361	0.313000	0.20887	CCC		0.637	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2		NM_173618		10	21	0	0	0	1	0	10	21		
DCTPP1	79077	broad.mit.edu	37	16	30440456	30440456	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:30440456C>T	ENST00000319285.4	-	2	228	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	ZNF771_ENST00000566625.1_3'UTR|DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000567983.1_Intron|DCTPP1_ENST00000565758.1_5'UTR	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	45					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						TTCCCAGTCTCGTTCCGCAGC	0.567																																						uc002dyf.2		NaN																	0					0						c.(133-135)CGA>CAA		dCTP pyrophosphatase 1							99.0	88.0	92.0					16																	30440456		2197	4300	6497	SO:0001583	missense	79077				nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding	g.chr16:30440456C>T	BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"""XTP3-transactivated protein A"""	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.134G>A	16.37:g.30440456C>T	ENSP00000322524:p.Arg45Gln					ZNF771_uc010bzx.2_RNA	p.R45Q	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN			2	206	-			45			EAR.			Missense_Mutation	SNP	ENST00000319285.4	37	c.134G>A	CCDS10680.1	.	.	.	.	.	.	.	.	.	.	C	37	6.216426	0.97385	.	.	ENSG00000179958	ENST00000319285	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84488	0.5483	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86138	0.1579	9	0.87932	D	0	-34.8597	18.8472	0.92212	0.0:1.0:0.0:0.0	.	45	Q9H773	DCTP1_HUMAN	Q	45	.	ENSP00000322524:R45Q	R	-	2	0	DCTPP1	30347957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.288000	0.72679	2.763000	0.94921	0.650000	0.86243	CGA		0.567	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2		NM_024096		21	53	0	0	0	1	0	21	53		
ADCY7	113	broad.mit.edu	37	16	50335123	50335123	+	Missense_Mutation	SNP	C	C	T	rs538515875		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:50335123C>T	ENST00000394697.2	+	10	1706	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000538642.1_Missense_Mutation_p.R456W|ADCY7_ENST00000566433.2_Missense_Mutation_p.R456W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R456W			P51828	ADCY7_HUMAN	adenylate cyclase 7	456					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CATCGACCCCCGGGTACGAGG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		16593	0.0		0.0	False		,,,				2504	0.001					uc002egd.1		NaN																	0				skin(1)	1						c.(1366-1368)CGG>TGG		adenylate cyclase 7	Bromocriptine(DB01200)						35.0	30.0	32.0					16																	50335123		2185	4296	6481	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50335123C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1366C>T	16.37:g.50335123C>T	ENSP00000378187:p.Arg456Trp					ADCY7_uc002egb.1_Missense_Mutation_p.R456W|ADCY7_uc002egc.1_Missense_Mutation_p.R456W	p.R456W	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	9	1634	+		all_cancers(37;0.0127)	456			Cytoplasmic (Potential).		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1366C>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191686	0.58017	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.82344	-1.09;-1.6;-1.6	5.26	3.16	0.36331	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.40222	U	0.001147	T	0.77811	0.4186	L	0.32530	0.975	0.80722	D	1	P;P	0.46142	0.652;0.873	B;P	0.46076	0.099;0.503	T	0.78964	-0.1996	10	0.59425	D	0.04	.	11.8547	0.52431	0.5356:0.4644:0.0:0.0	.	456;456	P51828;F5H4D1	ADCY7_HUMAN;.	W	456	ENSP00000445046:R456W;ENSP00000378187:R456W;ENSP00000254235:R456W	ENSP00000254235:R456W	R	+	1	2	ADCY7	48892624	0.416000	0.25424	1.000000	0.80357	0.971000	0.66376	1.042000	0.30303	1.188000	0.43014	0.491000	0.48974	CGG		0.682	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3				4	5	0	0	0	1	0	4	5		
CHD9	80205	broad.mit.edu	37	16	53301296	53301296	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:53301296G>A	ENST00000398510.3	+	20	4498	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	CHD9_ENST00000566029.1_Missense_Mutation_p.E1471K|CHD9_ENST00000447540.1_Missense_Mutation_p.E1471K|CHD9_ENST00000564845.1_Missense_Mutation_p.E1471K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1471					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCTGAAGCTGAAAGTGAAGG	0.413																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(4411-4413)GAA>AAA		chromodomain helicase DNA binding protein 9							121.0	116.0	117.0					16																	53301296		1859	4108	5967	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53301296G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4411G>A	16.37:g.53301296G>A	ENSP00000381522:p.Glu1471Lys					CHD9_uc002egy.2_Missense_Mutation_p.E1471K|CHD9_uc002ehc.2_Missense_Mutation_p.E1471K|CHD9_uc002ehf.2_Missense_Mutation_p.E585K|CHD9_uc010cbw.2_5'UTR|CHD9_uc002ehd.2_Missense_Mutation_p.E997K	p.E1471K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			20	4575	+		all_cancers(37;0.0212)	1471					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4411G>A		.	.	.	.	.	.	.	.	.	.	G	30	5.057503	0.93846	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.83755	-1.76;-1.76	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000023	D	0.91054	0.7185	M	0.80616	2.505	0.80722	D	1	P;D;P;P	0.58970	0.588;0.984;0.888;0.932	B;D;P;P	0.65874	0.206;0.939;0.453;0.655	D	0.90948	0.4803	10	0.46703	T	0.11	-21.1215	18.8871	0.92383	0.0:0.0:1.0:0.0	.	997;1471;1471;1471	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	1471;1471;997	ENSP00000396345:E1471K;ENSP00000381522:E1471K	ENSP00000219084:E997K	E	+	1	0	CHD9	51858797	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.897000	0.87356	2.529000	0.85273	0.650000	0.86243	GAA		0.413	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		27	34	0	0	0	1	0	27	34		
CNOT1	23019	broad.mit.edu	37	16	58621779	58621779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:58621779G>A	ENST00000317147.5	-	4	546	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q72*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q72*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	72					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAGAAACTGAGTCTTTAAA	0.353																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(214-216)CAG>TAG		CCR4-NOT transcription complex, subunit 1							64.0	64.0	64.0					16																	58621779		2198	4300	6498	SO:0001587	stop_gained	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621779G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.214C>T	16.37:g.58621779G>A	ENSP00000320949:p.Gln72*					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q72*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q72*|CNOT1_uc002enz.1_5'UTR	p.Q72*	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	4	507	-			72					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	ENST00000317147.5	37	c.214C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	38	6.930721	0.97944	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.879	0.96888	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	.	Q	-	1	0	CNOT1	57179280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.695000	0.91970	0.655000	0.94253	CAG		0.353	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		20	35	0	0	0	1	0	20	35		
SLC9A5	6553	broad.mit.edu	37	16	67291253	67291253	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67291253G>C	ENST00000299798.11	+	8	1406	c.1341G>C	c.(1339-1341)ttG>ttC	p.L447F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	447					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CATAGGGCTTGACCATCAAGC	0.542																																						uc002esm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1339-1341)TTG>TTC		solute carrier family 9 (sodium/hydrogen							92.0	99.0	97.0					16																	67291253		2128	4266	6394	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67291253G>C		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1341G>C	16.37:g.67291253G>C	ENSP00000299798:p.Leu447Phe					SLC9A5_uc010cee.2_Missense_Mutation_p.L152F|SLC9A5_uc010vji.1_5'UTR	p.L447F	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	8	1404	+		Ovarian(137;0.0563)	447			Helical; (Potential).		A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1341G>C	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008478	0.54361	.	.	ENSG00000135740	ENST00000299798	T	0.17054	2.3	5.76	3.73	0.42828	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000002	T	0.33118	0.0852	L	0.60455	1.87	0.49687	D	0.999815	D	0.89917	1.0	D	0.75484	0.986	T	0.04153	-1.0973	10	0.66056	D	0.02	.	7.9931	0.30252	0.1598:0.1388:0.7014:0.0	.	447	Q14940	SL9A5_HUMAN	F	447	ENSP00000299798:L447F	ENSP00000299798:L447F	L	+	3	2	SLC9A5	65848754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.572000	0.45999	1.373000	0.46208	0.609000	0.83330	TTG		0.542	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1				16	54	0	0	0	1	0	16	54		
ACD	65057	broad.mit.edu	37	16	67694244	67694244	+	Silent	SNP	A	A	G	rs2303761		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67694244A>G	ENST00000393919.4	-	1	402	c.138T>C	c.(136-138)cgT>cgC	p.R46R	ACD_ENST00000219251.8_Silent_p.R46R|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	46					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCCCGCCCACGTACACCCC	0.736																																						uc002etq.3		NaN																	0				pancreas(1)	1						c.(136-138)CGT>CGC		adrenocortical dysplasia homolog isoform 1							10.0	13.0	12.0					16																	67694244		2112	4232	6344	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694244A>G	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.138T>C	16.37:g.67694244A>G						ACD_uc002etp.3_Silent_p.R46R|ACD_uc002etr.3_Silent_p.R46R|ACD_uc010vjt.1_Silent_p.R36R|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.R46R	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	475	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	46					Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.138T>C	CCDS42181.1																																																																																				0.736	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		NM_022914		6	12	0	0	0	1	0	6	12		
C16orf86	388284	broad.mit.edu	37	16	67702120	67702120	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67702120C>T	ENST00000403458.4	+	4	726	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCAGCGCCTGCGGCCGCTGTA	0.657											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ety.2		NaN																	0					0						c.(571-573)CGG>TGG		hypothetical protein LOC388284							14.0	15.0	15.0					16																	67702120		2191	4290	6481	SO:0001583	missense	388284							g.chr16:67702120C>T		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.571C>T	16.37:g.67702120C>T	ENSP00000384117:p.Arg191Trp		OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101	C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.2_RNA	p.R191W	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	4	728	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	191					B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	c.571C>T	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197080	0.79015	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	1.34	0.21922	.	.	.	.	.	T	0.60143	0.2246	L	0.29908	0.895	0.33386	D	0.575471	D	0.89917	1.0	D	0.97110	1.0	T	0.71421	-0.4598	8	0.87932	D	0	-14.3871	14.2752	0.66175	0.4914:0.5086:0.0:0.0	.	191	Q6ZW13	CP086_HUMAN	W	191	.	ENSP00000384117:R191W	R	+	1	2	C16orf86	66259621	0.975000	0.34042	0.991000	0.47740	0.957000	0.61999	0.292000	0.19011	0.823000	0.34589	0.563000	0.77884	CGG		0.657	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2		NM_001012984		9	10	0	0	0	1	0	9	10		
TERF2	7014	broad.mit.edu	37	16	69419340	69419340	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69419340C>T	ENST00000254942.3	-	2	445	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TERF2_ENST00000603068.1_Silent_p.L101L|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Silent_p.L143L	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	143	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCATAACCCGCAGCAATCGGG	0.532																																					Ovarian(13;63 524 30420 31710 34037)	uc002exd.2		NaN																	0				lung(1)	1						c.(301-303)CTG>CTA		telomeric repeat binding factor 2							142.0	144.0	143.0					16																	69419340		2198	4300	6498	SO:0001819	synonymous_variant	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69419340C>T		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.429G>A	16.37:g.69419340C>T						TERF2_uc002exe.2_Silent_p.L101L	p.L101L	NM_005652	NP_005643	Q15554	TERF2_HUMAN			2	428	-		Ovarian(137;0.101)	101			TRFH dimerization.			Silent	SNP	ENST00000254942.3	37	c.303G>A																																																																																					0.532	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2				20	42	0	0	0	1	0	20	42		
CYB5B	80777	broad.mit.edu	37	16	69458758	69458758	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69458758G>A	ENST00000512062.1	+	1	331	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CYB5B_ENST00000515314.1_Missense_Mutation_p.E54K|CYB5B_ENST00000561792.1_Missense_Mutation_p.E54K|CYB5B_ENST00000307892.8_Missense_Mutation_p.E58K			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	54	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CTTCCTCAACGAGGTGGGGCC	0.602																																						uc002exg.1		NaN																	0					0						c.(172-174)GAG>AAG		cytochrome b5 outer mitochondrial membrane							43.0	43.0	43.0					16																	69458758		2024	4180	6204	SO:0001583	missense	80777				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding	g.chr16:69458758G>A		CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.160G>A	16.37:g.69458758G>A	ENSP00000423679:p.Glu54Lys					CYB5B_uc002exf.2_Missense_Mutation_p.E58K|CYB5B_uc010cfl.1_Missense_Mutation_p.E58K	p.E58K	NM_030579	NP_085056	O43169	CYB5B_HUMAN			1	261	+		Ovarian(137;0.101)	54			Cytochrome b5 heme-binding.		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	ENST00000512062.1	37	c.172G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.545345	0.96488	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	T;T;T	0.80304	-1.36;-1.36;-1.36	5.79	5.79	0.91817	Cytochrome b5 (5);	0.139348	0.64402	D	0.000004	D	0.90017	0.6883	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.99;0.998;0.958	D	0.90648	0.4580	10	0.87932	D	0	3.406	17.7937	0.88562	0.0:0.0:1.0:0.0	.	54;54;54	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	K	54;58;54	ENSP00000423679:E54K;ENSP00000308430:E58K;ENSP00000421492:E54K	ENSP00000308430:E58K	E	+	1	0	CYB5B	68016259	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.157000	0.64911	2.731000	0.93534	0.591000	0.81541	GAG		0.602	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2		NM_030579		15	29	0	0	0	1	0	15	29		
NFAT5	10725	broad.mit.edu	37	16	69687308	69687308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69687308C>T	ENST00000354436.2	+	4	1246	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q328*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q234*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q234*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q328*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q234*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	310	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGATAGAACACAGCAAGGCTT	0.398																																						uc002exm.1		NaN																	0					0						c.(928-930)CAG>TAG		nuclear factor of activated T-cells 5 isoform c							80.0	78.0	78.0					16																	69687308		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69687308C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.928C>T	16.37:g.69687308C>T	ENSP00000346420:p.Gln310*					NFAT5_uc002exh.1_Nonsense_Mutation_p.Q104*|NFAT5_uc002exi.2_Nonsense_Mutation_p.Q234*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q234*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q234*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q328*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q328*	p.Q310*	NM_006599	NP_006590	O94916	NFAT5_HUMAN			4	2136	+			310			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.928C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	40	8.450316	0.98817	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.8492	18.5541	0.91077	0.0:1.0:0.0:0.0	.	.	.	.	X	328;328;234;310;234	.	ENSP00000338806:Q234X	Q	+	1	0	NFAT5	68244809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.754000	0.85163	2.467000	0.83353	0.460000	0.39030	CAG		0.398	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714		14	37	0	0	0	1	0	14	37		
IST1	9798	broad.mit.edu	37	16	71961660	71961660	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:71961660G>C	ENST00000378799.6	+	10	1401	c.1045G>C	c.(1045-1047)Gac>Cac	p.D349H	RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000535424.1_Missense_Mutation_p.D362H|IST1_ENST00000541571.2_Missense_Mutation_p.D349H|RP11-498D10.6_ENST00000573861.1_RNA|IST1_ENST00000606369.1_Missense_Mutation_p.D201H|IST1_ENST00000378798.5_Missense_Mutation_p.D318H|PKD1L3_ENST00000534738.1_RNA|IST1_ENST00000544564.1_Missense_Mutation_p.D349H|IST1_ENST00000538850.1_Missense_Mutation_p.D201H|IST1_ENST00000329908.8_Missense_Mutation_p.K347N|IST1_ENST00000538565.1_3'UTR			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	347	Interaction with VPS4A, VTA1, MITD1 STAMBP and USP8.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										AGCATCTGAAGACATTGACTT	0.458																																						uc002fbj.1		NaN																	0				ovary(1)	1						c.(1084-1086)GAC>CAC		SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;							190.0	195.0	194.0					16																	71961660		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71961660G>C	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.1045G>C	16.37:g.71961660G>C	ENSP00000368076:p.Asp349His					KIAA0174_uc010cgh.1_Missense_Mutation_p.D362H|KIAA0174_uc002fbk.1_Missense_Mutation_p.K347N|KIAA0174_uc002fbm.1_Missense_Mutation_p.D349H|KIAA0174_uc002fbl.1_Missense_Mutation_p.D318H|KIAA0174_uc002fbn.1_Missense_Mutation_p.D201H|KIAA0174_uc010cgi.1_Missense_Mutation_p.D120H|KIAA0174_uc010cgj.1_Missense_Mutation_p.D266H|KIAA0174_uc010vml.1_RNA	p.D362H			P53990	IST1_HUMAN			12	1367	+			347			Interaction with VTA1.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.1084G>C	CCDS59272.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.4|24.4|24.4	4.525415|4.525415|4.525415	0.85600|0.85600|0.85600	.|.|.	.|.|.	ENSG00000182149|ENSG00000182149|ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000538850;ENST00000378798;ENST00000456820|ENST00000329908|ENST00000541848	.|.|.	.|.|.	.|.|.	5.44|5.44|5.44	5.44|5.44|5.44	0.79542|0.79542|0.79542	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75443|0.75443|0.75443	0.3850|0.3850|0.3850	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|B|.	0.89917|0.24043|.	1.0;1.0;1.0|0.096|.	D;D;D|B|.	0.76575|0.30105|.	0.972;0.988;0.98|0.111|.	T|T|T	0.73206|0.73206|0.73206	-0.4056|-0.4056|-0.4056	8|7|4	0.72032|0.87932|.	D|D|.	0.01|0|.	-19.8485|-19.8485|-19.8485	19.6271|19.6271|19.6271	0.95682|0.95682|0.95682	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	347;318;362|347|.	P53990;P53990-2;A8KAH5|P53990-3|.	IST1_HUMAN;.;.|.|.	H|N|T	362;349;338;201;318;272|347|203	.|.|.	ENSP00000368075:D318H|ENSP00000330408:K347N|.	D|K|R	+|+|+	1|3|2	0|2|0	KIAA0174|KIAA0174|KIAA0174	70519161|70519161|70519161	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.369000|9.369000|9.369000	0.97156|0.97156|0.97156	2.712000|2.712000|2.712000	0.92718|0.92718|0.92718	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAC|AAG|AGA		0.458	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2		NM_014761		67	125	0	0	0	1	0	67	125		
RFWD3	55159	broad.mit.edu	37	16	74685896	74685896	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:74685896C>T	ENST00000361070.4	-	3	740	c.643G>A	c.(643-645)Gat>Aat	p.D215N	RFWD3_ENST00000571750.1_Missense_Mutation_p.D215N	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	215					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTCAGAATCAGAACTACTA	0.478																																						uc002fda.2		NaN																	0				lung(2)|breast(1)	3						c.(643-645)GAT>AAT		ring finger and WD repeat domain 3							114.0	107.0	110.0					16																	74685896		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74685896C>T	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.643G>A	16.37:g.74685896C>T	ENSP00000354361:p.Asp215Asn					RFWD3_uc010cgq.2_Missense_Mutation_p.D215N	p.D215N	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			3	741	-			215					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.643G>A	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112501	0.37242	.	.	ENSG00000168411	ENST00000361070	T	0.18810	2.19	5.4	1.26	0.21427	.	0.916518	0.09226	N	0.831201	T	0.20577	0.0495	M	0.61703	1.905	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.31641	-0.9936	10	0.32370	T	0.25	-22.3726	5.7837	0.18320	0.0:0.6339:0.1387:0.2275	.	215	Q6PCD5	RFWD3_HUMAN	N	215	ENSP00000354361:D215N	ENSP00000354361:D215N	D	-	1	0	RFWD3	73243397	0.380000	0.25131	0.043000	0.18650	0.973000	0.67179	0.698000	0.25571	0.117000	0.18138	-0.142000	0.14014	GAT		0.478	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2		NM_018124		34	61	0	0	0	1	0	34	61		
CMIP	80790	broad.mit.edu	37	16	81739167	81739167	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:81739167T>C	ENST00000537098.3	+	19	2227	c.2155T>C	c.(2155-2157)Tgc>Cgc	p.C719R	CMIP_ENST00000398040.4_Missense_Mutation_p.C566R|CMIP_ENST00000539778.2_Missense_Mutation_p.C625R|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	719						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GCTGAACCTGTGCGAGACCCC	0.637																																						uc002fgp.2		NaN																	0					0						c.(2155-2157)TGC>CGC		c-Maf-inducing protein isoform C-mip							41.0	45.0	43.0					16																	81739167		2004	4161	6165	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81739167T>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2155T>C	16.37:g.81739167T>C	ENSP00000446100:p.Cys719Arg					CMIP_uc002fgq.1_Missense_Mutation_p.C625R|CMIP_uc010vnq.1_Missense_Mutation_p.C532R|CMIP_uc002fgr.1_Missense_Mutation_p.C566R	p.C719R	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			19	2227	+			685			LRR 3.		Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.2155T>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360643	0.82353	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.50813	0.73;0.73	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	N	0.25144	0.715	0.80722	D	1	D;D;D	0.71674	0.988;0.988;0.998	D;D;D	0.74348	0.983;0.983;0.982	T	0.59563	-0.7431	10	0.59425	D	0.04	.	14.922	0.70847	0.0:0.0:0.0:1.0	.	566;625;719	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	R	719;625;625;532	ENSP00000446100:C719R;ENSP00000440401:C625R	ENSP00000381120:C625R	C	+	1	0	CMIP	80296668	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.638000	0.83328	1.944000	0.56390	0.375000	0.23000	TGC		0.637	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2		NM_030629		6	9	0	0	0	1	0	6	9		
CDH15	1013	broad.mit.edu	37	16	89261279	89261279	+	Missense_Mutation	SNP	G	G	A	rs372201468		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:89261279G>A	ENST00000289746.2	+	14	2226	c.2161G>A	c.(2161-2163)Gct>Act	p.A721T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	721					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTTGGAGGCTGCAGATAG	0.637																																						uc002fmt.2		NaN																	0				skin(1)	1						c.(2161-2163)GCT>ACT		cadherin 15 preproprotein		G	THR/ALA	0,4358		0,0,2179	29.0	27.0	28.0		2161	4.9	1.0	16		28	1,8579		0,1,4289	no	missense	CDH15	NM_004933.2	58	0,1,6468	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	721/815	89261279	1,12937	2179	4290	6469	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261279G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2161G>A	16.37:g.89261279G>A	ENSP00000289746:p.Ala721Thr						p.A721T	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2238	+			721			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.2161G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670530	0.67814	0.0	1.17E-4	ENSG00000129910	ENST00000289746	T	0.76968	-1.06	4.93	4.93	0.64822	Cadherin, cytoplasmic domain (1);	0.244071	0.26638	N	0.023278	T	0.81297	0.4793	M	0.63428	1.95	0.44899	D	0.997917	B	0.25850	0.136	B	0.39738	0.308	T	0.80910	-0.1171	10	0.56958	D	0.05	.	16.9044	0.86122	0.0:0.0:1.0:0.0	.	721	P55291	CAD15_HUMAN	T	721	ENSP00000289746:A721T	ENSP00000289746:A721T	A	+	1	0	CDH15	87788780	1.000000	0.71417	0.996000	0.52242	0.781000	0.44180	6.274000	0.72587	2.279000	0.76181	0.561000	0.74099	GCT		0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1		NM_004933		3	8	0	0	0	1	0	3	8		
CLUH	23277	broad.mit.edu	37	17	2604800	2604800	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:2604800C>T	ENST00000570628.2	-	6	750	c.645G>A	c.(643-645)ctG>ctA	p.L215L	CLUH_ENST00000435359.1_Silent_p.L215L|CLUH_ENST00000538975.1_Silent_p.L215L			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	215					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGAGTACTTTCAGGCACTGCA	0.662																																						uc002fuy.1		NaN																	0				breast(2)	2						c.(643-645)CTG>CTA		hypothetical protein LOC23277							30.0	35.0	34.0					17																	2604800		1962	4139	6101	SO:0001819	synonymous_variant	23277						binding	g.chr17:2604800C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.645G>A	17.37:g.2604800C>T						KIAA0664_uc002fux.1_Silent_p.L147L	p.L215L	NM_015229	NP_056044	O75153	K0664_HUMAN			6	731	-			215					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.645G>A	CCDS45572.1																																																																																				0.662	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229		10	7	0	0	0	1	0	10	7		
INCA1	388324	broad.mit.edu	37	17	4892128	4892128	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:4892128C>G	ENST00000574617.1	-	7	862	c.507G>C	c.(505-507)gaG>gaC	p.E169D	RP5-1050D4.5_ENST00000574260.1_RNA|INCA1_ENST00000396829.2_Missense_Mutation_p.E169D|INCA1_ENST00000355025.3_Missense_Mutation_p.E154D|INCA1_ENST00000575780.1_Missense_Mutation_p.E154D|CAMTA2_ENST00000358183.4_5'Flank|INCA1_ENST00000576820.1_Missense_Mutation_p.E169D|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000572543.1_5'Flank|CAMTA2_ENST00000381311.5_5'Flank|CAMTA2_ENST00000348066.3_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000414043.3_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	169					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						AGGTTGCTCTCTCCTCTTCCA	0.582																																						uc002gaj.2		NaN																	0					0						c.(505-507)GAG>GAC		inhibitor of CDK, cyclin A1 interacting protein							145.0	111.0	122.0					17																	4892128		2203	4300	6503	SO:0001583	missense	388324					nucleus		g.chr17:4892128C>G	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.507G>C	17.37:g.4892128C>G	ENSP00000458316:p.Glu169Asp					CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.E169D|INCA1_uc002gal.2_Missense_Mutation_p.E154D|INCA1_uc002gam.2_Missense_Mutation_p.E154D	p.E169D	NM_213726	NP_998891	Q0VD86	INCA1_HUMAN			7	959	-			169					Q6J273|Q6PKN9	Missense_Mutation	SNP	ENST00000574617.1	37	c.507G>C	CCDS54074.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822586	0.71028	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.34	3.37	0.38596	.	0.384489	0.22476	N	0.059546	T	0.37625	0.1010	L	0.36672	1.1	0.19300	N	0.999979	P;P	0.50156	0.932;0.93	P;P	0.52823	0.52;0.71	T	0.12091	-1.0561	9	0.87932	D	0	-7.899	8.4903	0.33095	0.0:0.8953:0.0:0.1047	.	154;169	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	D	169;154	.	ENSP00000347129:E154D	E	-	3	2	INCA1	4832852	0.538000	0.26394	0.386000	0.26170	0.660000	0.38997	0.936000	0.28938	1.420000	0.47138	-0.150000	0.13652	GAG		0.582	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1		NM_213726		19	10	0	0	0	1	0	19	10		
DHX33	56919	broad.mit.edu	37	17	5372147	5372147	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:5372147C>T	ENST00000225296.3	-	1	233	c.33G>A	c.(31-33)aaG>aaA	p.K11K	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_Silent_p.K11K	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	11					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGGAATCTCTTGGCCGGCG	0.721																																						uc002gca.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(31-33)AAG>AAA		DEAH (Asp-Glu-Ala-His) box polypeptide 33							4.0	5.0	5.0					17																	5372147		2088	4126	6214	SO:0001819	synonymous_variant	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5372147C>T	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.33G>A	17.37:g.5372147C>T						DHX33_uc002gcb.2_5'UTR|DHX33_uc010clf.2_Silent_p.K11K	p.K11K	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			1	35	-			11					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	c.33G>A	CCDS11072.1																																																																																				0.721	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2		NM_020162		2	0	0	0	0	1	0	2	0		
NLRP1	22861	broad.mit.edu	37	17	5440230	5440230	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:5440230C>A	ENST00000572272.1	-	8	2900	c.2901G>T	c.(2899-2901)atG>atT	p.M967I	NLRP1_ENST00000269280.4_Missense_Mutation_p.M967I|NLRP1_ENST00000345221.3_Missense_Mutation_p.M967I|NLRP1_ENST00000262467.5_Missense_Mutation_p.M967I|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	967					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTCCTGCCTCATCTCATCAC	0.622																																						uc002gci.2		NaN																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(2899-2901)ATG>ATT		NLR family, pyrin domain containing 1 isoform 1							68.0	58.0	62.0					17																	5440230		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5440230C>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2901G>T	17.37:g.5440230C>A	ENSP00000460475:p.Met967Ile					NLRP1_uc002gcg.1_Missense_Mutation_p.M967I|NLRP1_uc002gck.2_Missense_Mutation_p.M967I|NLRP1_uc002gcj.2_Intron|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Missense_Mutation_p.M967I|NLRP1_uc010clh.2_Missense_Mutation_p.M967I	p.M967I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			8	3456	-		Colorectal(1115;3.48e-05)	967			LRR 6.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2901G>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	8.192	0.796269	0.16327	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000345221;ENST00000537069	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.37	1.23	0.21249	.	0.819359	0.09939	N	0.736166	T	0.28896	0.0717	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.24186	0.099;0.001;0.049;0.002	B;B;B;B	0.22753	0.041;0.002;0.012;0.004	T	0.24297	-1.0164	10	0.59425	D	0.04	.	6.4749	0.22031	0.2074:0.5914:0.2012:0.0	.	233;967;967;967	F5H042;Q9C000;Q9C000-2;E9PE50	.;NALP1_HUMAN;.;.	I	967;967;967;967;233	ENSP00000442029:M967I;ENSP00000262467:M967I;ENSP00000269280:M967I;ENSP00000324366:M967I	ENSP00000262467:M967I	M	-	3	0	NLRP1	5380954	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.110000	0.15437	0.211000	0.20683	-1.045000	0.02358	ATG		0.622	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1		NM_033004		12	12	1	0	5.50884e-06	1	5.59432e-06	12	12		
USP43	124739	broad.mit.edu	37	17	9580108	9580108	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:9580108C>T	ENST00000285199.7	+	5	975	c.879C>T	c.(877-879)ttC>ttT	p.F293F	USP43_ENST00000570475.1_Silent_p.F293F|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	293	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCCAGCGGTTCCTGCGGGTTG	0.557																																						uc010cod.2		NaN																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(877-879)TTC>TTT		ubiquitin specific protease 43							86.0	88.0	88.0					17																	9580108		2028	4176	6204	SO:0001819	synonymous_variant	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9580108C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.879C>T	17.37:g.9580108C>T						USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Silent_p.F293F|USP43_uc010coe.2_Silent_p.F90F	p.F293F	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN			5	879	+			293					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	c.879C>T	CCDS45610.1																																																																																				0.557	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3		NM_153210		8	4	0	0	0	1	0	8	4		
ARHGAP44	9912	broad.mit.edu	37	17	12860053	12860053	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:12860053C>T	ENST00000379672.5	+	15	1632	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	ARHGAP44_ENST00000262444.9_Silent_p.F444F|ARHGAP44_ENST00000340825.3_Silent_p.F444F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	444	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAGACTGGTTCTTCCCTGGGG	0.522																																						uc002gnr.3		NaN																	0					0						c.(1330-1332)TTC>TTT		Rho GTPase-activating protein RICH2							72.0	73.0	72.0					17																	12860053		2077	4231	6308	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12860053C>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1332C>T	17.37:g.12860053C>T						RICH2_uc010vvk.1_Silent_p.F444F|RICH2_uc010vvl.1_Silent_p.F444F|RICH2_uc002gns.3_Silent_p.F244F|RICH2_uc010vvm.1_Silent_p.F444F|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Silent_p.F167F	p.F444F	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			15	1659	+			444			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.1332C>T	CCDS45616.1																																																																																				0.522	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1		NM_014859		8	12	0	0	0	1	0	8	12		
FAM83G	644815	broad.mit.edu	37	17	18874745	18874745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:18874745G>A	ENST00000388995.6	-	6	2622	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.T800M|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.T800M|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	800					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTACCGCCCGTCCTGGCCTT	0.637																																						uc002guw.2		NaN																	0		p.T800T(1)		ovary(1)|central_nervous_system(1)	2						c.(2398-2400)ACG>ATG		hypothetical protein LOC644815							59.0	73.0	68.0					17																	18874745		2089	4186	6275	SO:0001583	missense	644815							g.chr17:18874745G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2399C>T	17.37:g.18874745G>A	ENSP00000373647:p.Thr800Met					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.T800M	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			6	2566	-			800					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2399C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	6.681	0.494216	0.12702	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.10960	2.82;2.82	5.54	3.51	0.40186	.	0.663319	0.14343	N	0.325591	T	0.08670	0.0215	L	0.33137	0.985	0.09310	N	1	B	0.24882	0.113	B	0.14023	0.01	T	0.19976	-1.0289	10	0.72032	D	0.01	-5.1536	8.22	0.31537	0.296:0.0:0.704:0.0	.	800	A6ND36	FA83G_HUMAN	M	800	ENSP00000373647:T800M;ENSP00000343279:T800M	ENSP00000343279:T800M	T	-	2	0	FAM83G	18815470	0.846000	0.29590	0.384000	0.26145	0.026000	0.11368	1.597000	0.36729	1.470000	0.48102	0.561000	0.74099	ACG		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4				42	34	0	0	0	1	0	42	34		
STAC2	342667	broad.mit.edu	37	17	37381683	37381683	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37381683C>T	ENST00000333461.5	-	1	442	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	25					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCCTGGAGGGCGGAGACGGTC	0.716																																						uc002hrs.2		NaN																	0				pancreas(1)	1						c.(73-75)GCC>ACC		SH3 and cysteine rich domain 2							52.0	45.0	47.0					17																	37381683		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37381683C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.73G>A	17.37:g.37381683C>T	ENSP00000327509:p.Ala25Thr					STAC2_uc010cvt.2_5'UTR	p.A25T	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN			1	292	-			25					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.73G>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	11.02	1.516412	0.27123	.	.	ENSG00000141750	ENST00000333461	T	0.79352	-1.26	5.42	1.99	0.26369	.	1.078000	0.07173	N	0.852753	T	0.43765	0.1262	N	0.00841	-1.15	0.20489	N	0.999892	B	0.02656	0.0	B	0.01281	0.0	T	0.42515	-0.9447	10	0.07990	T	0.79	-25.8179	5.1778	0.15145	0.0:0.5663:0.0:0.4337	.	25	Q6ZMT1	STAC2_HUMAN	T	25	ENSP00000327509:A25T	ENSP00000327509:A25T	A	-	1	0	STAC2	34635209	0.210000	0.23517	0.971000	0.41717	0.986000	0.74619	0.044000	0.13992	0.656000	0.30886	0.455000	0.32223	GCC		0.716	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2		NM_198993		11	10	0	0	0	1	0	11	10		
CDK12	51755	broad.mit.edu	37	17	37619354	37619354	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37619354C>T	ENST00000447079.4	+	1	1063	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	CDK12_ENST00000430627.2_Missense_Mutation_p.R344W	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	344					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTCTCTGAGTCGGAGTCCACT	0.552			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NaN		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(1030-1032)CGG>TGG		Cdc2-related kinase, arginine/serine-rich							69.0	66.0	67.0					17																	37619354		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37619354C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1030C>T	17.37:g.37619354C>T	ENSP00000398880:p.Arg344Trp	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.R344W|CDK12_uc002hrw.3_Missense_Mutation_p.R344W	p.R344W	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			1	1616	+			344					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1030C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244222	0.39697	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.48522	0.81;1.55	5.3	4.32	0.51571	.	0.000000	0.42294	D	0.000740	T	0.47967	0.1474	N	0.08118	0	0.43145	D	0.994903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.928;0.928;0.967	T	0.57225	-0.7848	10	0.48119	T	0.1	-9.108	15.1594	0.72771	0.1424:0.8576:0.0:0.0	.	344;344;344	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	W	344	ENSP00000407720:R344W;ENSP00000398880:R344W	ENSP00000407720:R344W	R	+	1	2	CDK12	34872880	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.232000	0.32636	1.208000	0.43306	0.655000	0.94253	CGG		0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507		18	15	0	0	0	1	0	18	15		
ERBB2	2064	broad.mit.edu	37	17	37864656	37864656	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37864656G>A	ENST00000269571.5	+	3	467	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	ERBB2_ENST00000584450.1_Missense_Mutation_p.R103Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000406381.2_Missense_Mutation_p.R73Q|ERBB2_ENST00000540042.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R88Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	103					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGGATTGTGCGAGGCACCCAG	0.612		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(307-309)CGA>CAA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						94.0	92.0	92.0					17																	37864656		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37864656G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.308G>A	17.37:g.37864656G>A	ENSP00000269571:p.Arg103Gln	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.R73Q|ERBB2_uc010cwa.2_Missense_Mutation_p.R88Q|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.R103Q|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.R73Q|ERBB2_uc002hsn.1_Missense_Mutation_p.R103Q	p.R103Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	3	546	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	103			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.308G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930400	0.73327	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.21	5.21	0.72293	EGF receptor, L domain (1);	.	.	.	.	D	0.92599	0.7649	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.93893	0.7181	9	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	73;88;103;103	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	Q	73;88;103;73;73	ENSP00000385185:R73Q;ENSP00000446466:R88Q;ENSP00000269571:R103Q;ENSP00000443562:R73Q;ENSP00000446382:R73Q	ENSP00000269571:R103Q	R	+	2	0	ERBB2	35118182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.448000	0.97600	2.873000	0.98535	0.561000	0.74099	CGA		0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				28	27	0	0	0	1	0	28	27		
PTRF	284119	broad.mit.edu	37	17	40557078	40557078	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:40557078C>T	ENST00000357037.5	-	2	1219	c.800G>A	c.(799-801)cGg>cAg	p.R267Q		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CAGGGTGTGCCGCGTCTTCTC	0.607																																						uc002hzo.2		NaN																	0				breast(1)	1						c.(799-801)CGG>CAG		polymerase I and transcript release factor							123.0	109.0	114.0					17																	40557078		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557078C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.800G>A	17.37:g.40557078C>T	ENSP00000349541:p.Arg267Gln					PTRF_uc010wgi.1_Missense_Mutation_p.R249Q	p.R267Q	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	959	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	267			Potential.			Missense_Mutation	SNP	ENST00000357037.5	37	c.800G>A	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859770	0.71834	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.65549	-0.16	5.81	5.81	0.92471	.	0.150034	0.41823	D	0.000818	T	0.63522	0.2518	L	0.61218	1.895	0.34107	D	0.66257	D;D	0.56287	0.975;0.975	P;P	0.45474	0.482;0.482	T	0.77230	-0.2664	10	0.72032	D	0.01	-14.7881	13.3073	0.60359	0.0:0.9278:0.0:0.0722	.	249;267	B4DNU9;Q6NZI2	.;PTRF_HUMAN	Q	267;222	ENSP00000349541:R267Q	ENSP00000349541:R267Q	R	-	2	0	PTRF	37810604	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	3.216000	0.51176	2.755000	0.94549	0.544000	0.68410	CGG		0.607	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1		NM_012232		21	12	0	0	0	1	0	21	12		
HOXB1	3211	broad.mit.edu	37	17	46607197	46607197	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:46607197G>A	ENST00000239174.6	-	2	710	c.618C>T	c.(616-618)ctC>ctT	p.L206L	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	206					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTTGGTGCGGAGGCCACTGG	0.607																																						uc002ink.1		NaN																	0				ovary(1)	1						c.(616-618)CTC>CTT		homeobox B1							92.0	96.0	94.0					17																	46607197		2203	4300	6503	SO:0001819	synonymous_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607197G>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.618C>T	17.37:g.46607197G>A							p.L206L	NM_002144	NP_002135	P14653	HXB1_HUMAN			2	624	-			206			Homeobox.		Q4VB03	Silent	SNP	ENST00000239174.6	37	c.618C>T	CCDS32675.1																																																																																				0.607	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3				48	33	0	0	0	1	0	48	33		
SCPEP1	59342	broad.mit.edu	37	17	55083551	55083551	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:55083551G>A	ENST00000262288.3	+	13	1369	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	438					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					CTGACCAAGGGGACATGGCTC	0.522																																						uc002iuv.3		NaN																	0				skin(1)	1						c.(1312-1314)GGG>GGA		serine carboxypeptidase 1 precursor							245.0	216.0	226.0					17																	55083551		2203	4300	6503	SO:0001819	synonymous_variant	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55083551G>A	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.1314G>A	17.37:g.55083551G>A						SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.G388G	p.G438G	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			13	1367	+	Breast(9;2.86e-08)		438					Q96A94|Q9H3F0	Silent	SNP	ENST00000262288.3	37	c.1314G>A	CCDS11593.1																																																																																				0.522	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1		NM_021626		25	56	0	0	0	1	0	25	56		
BZRAP1	9256	broad.mit.edu	37	17	56386419	56386419	+	Missense_Mutation	SNP	C	C	T	rs372248342		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:56386419C>T	ENST00000343736.4	-	22	4377	c.4214G>A	c.(4213-4215)cGg>cAg	p.R1405Q	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1345Q|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1405Q			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1405						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCTCCTCCGGCTGCTTCC	0.642																																						uc002ivx.3		NaN																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(4213-4215)CGG>CAG		peripheral benzodiazepine receptor-associated		C	GLN/ARG,GLN/ARG	1,4403		0,1,2201	58.0	67.0	64.0		4214,4034	4.3	0.9	17		64	0,8598		0,0,4299	no	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	43,43	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1405/1858,1345/1798	56386419	1,13001	2202	4299	6501	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386419C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4214G>A	17.37:g.56386419C>T	ENSP00000345824:p.Arg1405Gln					BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.R1345Q|BZRAP1_uc010wnt.1_Missense_Mutation_p.R1405Q	p.R1405Q	NM_004758	NP_004749	O95153	RIMB1_HUMAN			22	5085	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1405					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4214G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613052	0.66672	2.27E-4	0.0	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04454	3.63;3.62;3.63	5.31	4.33	0.51752	.	0.630667	0.15855	N	0.241281	T	0.07007	0.0178	L	0.29908	0.895	0.27816	N	0.941964	B;D;D	0.67145	0.037;0.996;0.993	B;P;P	0.54174	0.011;0.744;0.559	T	0.28554	-1.0040	10	0.23891	T	0.37	.	7.7183	0.28717	0.0:0.8003:0.0:0.1997	.	1405;1345;1405	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	1405;1405;1345	ENSP00000347929:R1405Q;ENSP00000345824:R1405Q;ENSP00000268893:R1345Q	ENSP00000268893:R1345Q	R	-	2	0	BZRAP1	53741418	0.988000	0.35896	0.891000	0.34965	0.877000	0.50540	1.980000	0.40618	1.229000	0.43630	0.563000	0.77884	CGG		0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1		NM_004758		47	58	0	0	0	1	0	47	58		
RAD51C	5889	broad.mit.edu	37	17	56774148	56774148	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:56774148G>A	ENST00000337432.4	+	3	570	c.499G>A	c.(499-501)Gat>Aat	p.D167N	RAD51C_ENST00000583539.1_Missense_Mutation_p.D167N|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	167					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTATGGTTGATAGAGTGGT	0.413								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NaN																	0					0						c.(499-501)GAT>AAT	Homologous_recombination	RAD51 homolog C isoform 1							217.0	195.0	203.0					17																	56774148		2203	4300	6503	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56774148G>A	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.499G>A	17.37:g.56774148G>A	ENSP00000336701:p.Asp167Asn					RAD51C_uc010woa.1_Missense_Mutation_p.D167N|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA	p.D167N	NM_058216	NP_478123	O43502	RA51C_HUMAN			3	541	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		167					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.499G>A	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562249	0.65538	.	.	ENSG00000108384	ENST00000337432;ENST00000425173	T;T	0.38887	1.11;1.11	5.65	5.65	0.86999	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.150382	0.64402	D	0.000010	T	0.42108	0.1188	L	0.45744	1.44	0.80722	D	1	B;B	0.17038	0.006;0.02	B;B	0.21151	0.033;0.03	T	0.24083	-1.0170	10	0.59425	D	0.04	-11.7967	18.3036	0.90172	0.0:0.0:1.0:0.0	.	158;167	B4E0G0;O43502	.;RA51C_HUMAN	N	167;99	ENSP00000336701:D167N;ENSP00000407282:D99N	ENSP00000336701:D167N	D	+	1	0	RAD51C	54129147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.350000	0.73017	2.660000	0.90430	0.655000	0.94253	GAT		0.413	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2		NM_058216		29	47	0	0	0	1	0	29	47		
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:63010911T>C	ENST00000439174.2	-	4	843	c.598A>G	c.(598-600)Aga>Gga	p.R200G	GNA13_ENST00000541118.1_Missense_Mutation_p.R105G	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	200					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTGGGTCTTCTGGCAAGCAGA	0.353																																						uc002jfc.2		NaN																	0					0						c.(598-600)AGA>GGA		guanine nucleotide binding protein (G protein),							64.0	64.0	64.0					17																	63010911		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010911T>C	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.598A>G	17.37:g.63010911T>C	ENSP00000400717:p.Arg200Gly					GNA13_uc010wqh.1_Missense_Mutation_p.R105G	p.R200G	NM_006572	NP_006563	Q14344	GNA13_HUMAN			4	807	-			200			GTP (By similarity).		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.598A>G	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492304	0.64074	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.92099	-2.97;-2.97	5.99	3.73	0.42828	G protein alpha subunit, helical insertion (1);	0.045670	0.85682	D	0.000000	D	0.95576	0.8562	H	0.95745	3.715	0.54753	D	0.999987	P	0.52577	0.954	P	0.50934	0.654	D	0.95920	0.8930	10	0.87932	D	0	.	12.5436	0.56186	0.0:0.0:0.5367:0.4633	.	200	Q14344	GNA13_HUMAN	G	200;105;175	ENSP00000400717:R200G;ENSP00000439647:R105G	ENSP00000239138:R175G	R	-	1	2	GNA13	60441373	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	0.402000	0.20965	1.066000	0.40716	0.449000	0.29647	AGA		0.353	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572		26	43	0	0	0	1	0	26	43		
BPTF	2186	broad.mit.edu	37	17	65908474	65908474	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:65908474G>A	ENST00000321892.4	+	13	4913	c.4852G>A	c.(4852-4854)Gat>Aat	p.D1618N	BPTF_ENST00000335221.5_Missense_Mutation_p.D1618N|BPTF_ENST00000306378.6_Missense_Mutation_p.D1492N|BPTF_ENST00000424123.3_Missense_Mutation_p.D1479N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1618					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGTTCTTCAGATGCTGAAGG	0.433																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(4474-4476)GAT>AAT		bromodomain PHD finger transcription factor							65.0	62.0	63.0					17																	65908474		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908474G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4852G>A	17.37:g.65908474G>A	ENSP00000315454:p.Asp1618Asn					BPTF_uc002jge.2_Missense_Mutation_p.D1618N	p.D1492N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	4535	+	all_cancers(12;6e-11)		1618					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4474G>A		.	.	.	.	.	.	.	.	.	.	G	11.99	1.803631	0.31869	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.64803	-0.11;-0.12;-0.11	5.47	5.47	0.80525	.	.	.	.	.	T	0.66626	0.2808	L	0.29908	0.895	0.37065	D	0.89824	B;D	0.69078	0.42;0.997	B;D	0.66196	0.187;0.942	T	0.69632	-0.5093	9	0.44086	T	0.13	-3.6139	12.9757	0.58537	0.0744:0.0:0.9256:0.0	.	1492;1618	Q12830-2;Q12830-4	.;.	N	1492;1618;1618	ENSP00000307208:D1492N;ENSP00000334351:D1618N;ENSP00000315454:D1618N	ENSP00000307208:D1492N	D	+	1	0	BPTF	63338936	1.000000	0.71417	0.302000	0.25058	0.355000	0.29361	5.386000	0.66238	2.728000	0.93425	0.650000	0.86243	GAT		0.433	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		33	61	0	0	0	1	0	33	61		
GRIN2C	2905	broad.mit.edu	37	17	72846043	72846043	+	Silent	SNP	G	G	A	rs147077649	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:72846043G>A	ENST00000293190.5	-	7	1667	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Silent_p.I507I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	507					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAGGGAGCCGATGGCCATGT	0.607													G|||	6	0.00119808	0.0038	0.0	5008	,	,		18011	0.0		0.0	False		,,,				2504	0.001					uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(1519-1521)ATC>ATT		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	G		6,4400	11.4+/-27.6	0,6,2197	103.0	94.0	97.0		1521	0.9	1.0	17	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	GRIN2C	NM_000835.3		0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538		507/1234	72846043	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846043G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1521C>T	17.37:g.72846043G>A						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.I507I	p.I507I	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			7	1677	-	all_lung(278;0.172)|Lung NSC(278;0.207)		507			Extracellular (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.1521C>T	CCDS32724.1																																																																																				0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				30	50	0	0	0	1	0	30	50		
ICT1	3396	broad.mit.edu	37	17	73016475	73016475	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73016475G>A	ENST00000301585.5	+	4	364	c.351G>A	c.(349-351)caG>caA	p.Q117Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	117					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CCGTGCGGCAGAAGATAGCCA	0.507																																						uc002jmm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(349-351)CAG>CAA		immature colon carcinoma transcript 1 precursor							51.0	53.0	52.0					17																	73016475		2203	4300	6503	SO:0001819	synonymous_variant	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016475G>A	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.351G>A	17.37:g.73016475G>A							p.Q117Q	NM_001545	NP_001536	Q14197	ICT1_HUMAN			4	353	+	all_lung(278;0.226)		117					B2RAD1|Q53HM7|Q53Y11	Silent	SNP	ENST00000301585.5	37	c.351G>A	CCDS11711.1																																																																																				0.507	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1		NM_001545		20	29	0	0	0	1	0	20	29		
GALK1	2584	broad.mit.edu	37	17	73754661	73754661	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73754661G>C	ENST00000588479.1	-	6	1387	c.813C>G	c.(811-813)agC>agG	p.S271R	GALK1_ENST00000225614.2_Missense_Mutation_p.S271R|GALK1_ENST00000437911.1_Missense_Mutation_p.S301R			P51570	GALK1_HUMAN	galactokinase 1	271					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCCTCTTTGCTCACCAGGT	0.701																																						uc010wsi.1		NaN																	0					0						c.(811-813)AGC>AGG		galactokinase 1							8.0	11.0	10.0					17																	73754661		2152	4217	6369	SO:0001583	missense	2584				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	g.chr17:73754661G>C		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.813C>G	17.37:g.73754661G>C	ENSP00000465930:p.Ser271Arg					GALK1_uc002jpk.2_Missense_Mutation_p.S271R	p.S271R	NM_000154	NP_000145	P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	876	-	all_cancers(13;1.5e-07)		271					B2RC07|B4E1G6	Missense_Mutation	SNP	ENST00000588479.1	37	c.813C>G	CCDS11728.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286874	0.23478	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.85013	-1.93;-1.93	4.75	4.75	0.60458	.	0.303860	0.37095	N	0.002246	T	0.77089	0.4079	L	0.49350	1.555	0.32229	N	0.574257	P	0.41978	0.767	B	0.38500	0.275	T	0.81090	-0.1090	10	0.56958	D	0.05	-2.8864	2.6504	0.04998	0.129:0.1699:0.5254:0.1757	.	271	P51570	GALK1_HUMAN	R	271;301;374	ENSP00000225614:S271R;ENSP00000406305:S301R	ENSP00000225614:S271R	S	-	3	2	GALK1	71266256	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	0.830000	0.27462	2.190000	0.69967	0.462000	0.41574	AGC		0.701	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1				4	8	0	0	0	1	0	4	8		
FBF1	85302	broad.mit.edu	37	17	73923539	73923539	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73923539C>T	ENST00000586717.1	-	8	703	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FBF1_ENST00000319129.5_Missense_Mutation_p.E144K|FBF1_ENST00000389570.4_Missense_Mutation_p.E144K			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	144					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ATGGTACCTTCAGAGGAAAAC	0.577																																						uc002jqc.2		NaN																	0					0						c.(430-432)GAA>AAA		Fas (TNFRSF6) binding factor 1							61.0	63.0	62.0					17																	73923539		1948	4146	6094	SO:0001583	missense	85302							g.chr17:73923539C>T	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.430G>A	17.37:g.73923539C>T	ENSP00000465132:p.Glu144Lys					FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E134K|FBF1_uc002jqd.1_Missense_Mutation_p.E144K	p.E144K	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN			8	704	-			144					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.430G>A		.	.	.	.	.	.	.	.	.	.	C	12.76	2.034976	0.35893	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.22539	1.95;1.95	5.64	4.67	0.58626	.	.	.	.	.	T	0.14960	0.0361	N	0.25890	0.77	0.33030	D	0.530107	B;B;B	0.12630	0.004;0.006;0.001	B;B;B	0.16289	0.015;0.009;0.006	T	0.12941	-1.0528	9	0.27082	T	0.32	.	10.6762	0.45787	0.0:0.912:0.0:0.088	.	158;144;144	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	K	144;144;144;157	ENSP00000374221:E144K;ENSP00000324292:E144K	ENSP00000324292:E144K	E	-	1	0	FBF1	71435134	0.995000	0.38212	0.657000	0.29651	0.130000	0.20726	3.193000	0.50997	1.382000	0.46385	0.650000	0.86243	GAA		0.577	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2		NM_001080542		3	3	0	0	0	1	0	3	3		
SRP68	6730	broad.mit.edu	37	17	74041408	74041408	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74041408C>T	ENST00000307877.2	-	12	1520	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Silent_p.E114E|SRP68_ENST00000539137.1_Silent_p.E415E|SRP68_ENST00000355113.5_Silent_p.E352E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	453					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGAGGCCTATCTCTTTCTGGA	0.463																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(1357-1359)GAG>GAA		signal recognition particle 68kDa							93.0	84.0	87.0					17																	74041408		2203	4297	6500	SO:0001819	synonymous_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74041408C>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1359G>A	17.37:g.74041408C>T						SRP68_uc010wsu.1_Silent_p.E352E|SRP68_uc002jql.1_Silent_p.E415E|SRP68_uc002jqj.1_Silent_p.E114E	p.E453E	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			12	1394	-			453					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	c.1359G>A	CCDS11738.1																																																																																				0.463	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		30	46	0	0	0	1	0	30	46		
EXOC7	23265	broad.mit.edu	37	17	74093986	74093986	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74093986G>A	ENST00000335146.7	-	5	584	c.531C>T	c.(529-531)gaC>gaT	p.D177D	EXOC7_ENST00000589210.1_Silent_p.D177D|EXOC7_ENST00000332065.5_Silent_p.D177D|EXOC7_ENST00000411744.2_Silent_p.D177D|EXOC7_ENST00000467929.2_Silent_p.D136D|EXOC7_ENST00000405575.4_Silent_p.D177D|EXOC7_ENST00000607838.1_Silent_p.D177D			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	177					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGATCATCGTCACCACTGA	0.617																																						uc002jqs.2		NaN																	0					0						c.(529-531)GAC>GAT		exocyst complex component 7 isoform 4							118.0	100.0	106.0					17																	74093986		2203	4300	6503	SO:0001819	synonymous_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74093986G>A	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.531C>T	17.37:g.74093986G>A						EXOC7_uc010dgv.1_Silent_p.D124D|EXOC7_uc002jqq.2_Silent_p.D177D|EXOC7_uc010wsw.1_Silent_p.D177D|EXOC7_uc010wsx.1_Silent_p.D177D|EXOC7_uc002jqr.2_Silent_p.D177D|EXOC7_uc010wsv.1_Silent_p.D136D|EXOC7_uc002jqu.2_Silent_p.D177D	p.D177D	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		5	626	-			177					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	37	c.531C>T	CCDS45782.1																																																																																				0.617	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2		NM_015219		34	77	0	0	0	1	0	34	77		
RHBDF2	79651	broad.mit.edu	37	17	74474947	74474947	+	Missense_Mutation	SNP	G	G	A	rs138968491		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74474947G>A	ENST00000313080.4	-	6	973	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	RHBDF2_ENST00000389760.4_Missense_Mutation_p.R205C|RHBDF2_ENST00000591885.1_Missense_Mutation_p.R205C|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	234					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CTCTTGCGGCGTGGCAGGTGG	0.687																																						uc002jrq.1		NaN																	0					0						c.(700-702)CGC>TGC		rhomboid, veinlet-like 6 isoform 1		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	51.0	43.0	46.0		613,700	5.6	1.0	17	dbSNP_134	46	0,8600		0,0,4300	yes	missense,missense	RHBDF2	NM_001005498.3,NM_024599.5	180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	205/828,234/857	74474947	4,13002	2203	4300	6503	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74474947G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.700C>T	17.37:g.74474947G>A	ENSP00000322775:p.Arg234Cys					RHBDF2_uc002jrp.1_Missense_Mutation_p.R205C|RHBDF2_uc002jrr.1_Missense_Mutation_p.R86C|RHBDF2_uc010wtf.1_Missense_Mutation_p.R205C|RHBDF2_uc002jrs.1_Missense_Mutation_p.R229C	p.R234C	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			6	993	-			234			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.700C>T	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799277	0.70567	9.08E-4	0.0	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.72505	-0.66;-0.66	5.61	5.61	0.85477	.	0.124559	0.52532	D	0.000074	D	0.82820	0.5120	L	0.59436	1.845	0.45541	D	0.998494	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.76575	0.934;0.988;0.971;0.95	D	0.83786	0.0228	10	0.87932	D	0	-36.2295	19.6379	0.95744	0.0:0.0:1.0:0.0	.	205;180;234;205	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	C	234;205;180	ENSP00000322775:R234C;ENSP00000374410:R205C	ENSP00000322775:R234C	R	-	1	0	RHBDF2	71986542	0.938000	0.31826	0.997000	0.53966	0.705000	0.40729	4.407000	0.59754	2.640000	0.89533	0.455000	0.32223	CGC		0.687	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1		NM_024599		17	28	0	0	0	1	0	17	28		
TMC6	11322	broad.mit.edu	37	17	76115385	76115385	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:76115385G>A	ENST00000590602.1	-	14	1963	c.1804C>T	c.(1804-1806)Ctg>Ttg	p.L602L	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Silent_p.L181L|TMC6_ENST00000322933.4_Silent_p.L181L|TMC6_ENST00000322914.3_Silent_p.L602L|TMC6_ENST00000392467.3_Silent_p.L602L|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	602					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAGGTCAGAGTCTGCCCA	0.622																																						uc002juj.1		NaN																	0					0						c.(1804-1806)CTG>TTG		transmembrane channel-like 6							133.0	117.0	123.0					17																	76115385		2203	4300	6503	SO:0001819	synonymous_variant	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76115385G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1804C>T	17.37:g.76115385G>A						TMC6_uc002jui.1_Silent_p.L181L|TMC6_uc010dhf.1_Silent_p.L435L|TMC6_uc002juk.2_Silent_p.L602L|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.L602L	p.L602L	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		13	1930	-			602			Cytoplasmic (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.1804C>T	CCDS32748.1																																																																																				0.622	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1				33	46	0	0	0	1	0	33	46		
TXNDC2	84203	broad.mit.edu	37	18	9888112	9888112	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:9888112G>A	ENST00000306084.6	+	2	1835	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E479K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	546	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGAAAAACTTGAAGCAGTCAT	0.378																																						uc002koi.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1636-1638)GAA>AAA		thioredoxin domain-containing 2 isoform 2							25.0	26.0	26.0					18																	9888112		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9888112G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1636G>A	18.37:g.9888112G>A	ENSP00000304908:p.Glu546Lys					TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.E479K	p.E546K	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	2085	+			546			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1636G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536287	0.27475	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.18502	2.21;2.21	3.92	2.13	0.27403	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.260049	0.36034	N	0.002833	T	0.15089	0.0364	N	0.20401	0.57	0.09310	N	1	D	0.64830	0.994	P	0.54815	0.761	T	0.07520	-1.0768	9	.	.	.	-5.8153	6.0172	0.19608	0.2316:0.0:0.7684:0.0	.	546	Q86VQ3	TXND2_HUMAN	K	344;479;546;531	ENSP00000350419:E479K;ENSP00000304908:E546K	.	E	+	1	0	TXNDC2	9878112	0.029000	0.19370	0.001000	0.08648	0.576000	0.36127	1.002000	0.29796	0.620000	0.30215	0.557000	0.71058	GAA		0.378	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1				11	21	0	0	0	1	0	11	21		
CEP192	55125	broad.mit.edu	37	18	13057683	13057683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:13057683G>A	ENST00000325971.8	+	18	4013	c.2420G>A	c.(2419-2421)tGg>tAg	p.W807*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.W928*|CEP192_ENST00000506447.1_Nonsense_Mutation_p.W1403*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	807					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTGACCGCTGGCTGCAAGTC	0.498																																						uc010xac.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(4207-4209)TGG>TAG		centrosomal protein 192kDa							137.0	118.0	124.0					18																	13057683		2203	4300	6503	SO:0001587	stop_gained	55125							g.chr18:13057683G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2420G>A	18.37:g.13057683G>A	ENSP00000317156:p.Trp807*					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.W928*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.W1144*	p.W1403*	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			20	4288	+			1403					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.4208G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.399433	0.98258	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	5.23	5.23	0.72850	.	0.167766	0.41938	D	0.000790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5263	19.1657	0.93557	0.0:0.0:1.0:0.0	.	.	.	.	X	1403;807;807;928	.	ENSP00000317156:W807X	W	+	2	0	CEP192	13047683	1.000000	0.71417	0.993000	0.49108	0.320000	0.28249	8.659000	0.91116	2.591000	0.87537	0.650000	0.86243	TGG		0.498	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142		14	33	0	0	0	1	0	14	33		
ZNF521	25925	broad.mit.edu	37	18	22805210	22805210	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:22805210C>T	ENST00000361524.3	-	4	2820	c.2672G>A	c.(2671-2673)tGt>tAt	p.C891Y	ZNF521_ENST00000538137.2_Missense_Mutation_p.C891Y|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.C671Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	891					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCTGCCCCACAAATGTCGCA	0.522			T	PAX5	ALL																																	uc002kvk.2		NaN		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2671-2673)TGT>TAT		zinc finger protein 521							116.0	109.0	112.0					18																	22805210		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805210C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2672G>A	18.37:g.22805210C>T	ENSP00000354794:p.Cys891Tyr					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C891Y|ZNF521_uc002kvl.2_Missense_Mutation_p.C671Y	p.C891Y	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2919	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		891			C2H2-type 21; degenerate.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2672G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722653	0.30503	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.58652	0.32;0.32	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	H	0.95043	3.615	0.51233	D	0.999914	D	0.89917	1.0	D	0.87578	0.998	D	0.88070	0.2800	10	0.72032	D	0.01	-17.5982	20.1184	0.97949	0.0:1.0:0.0:0.0	.	891	Q96K83	ZN521_HUMAN	Y	891;925;891	ENSP00000354794:C891Y;ENSP00000382352:C891Y	ENSP00000354794:C891Y	C	-	2	0	ZNF521	21059208	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	7.487000	0.81328	2.769000	0.95229	0.655000	0.94253	TGT		0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461		41	71	0	0	0	1	0	41	71		
DSC1	1823	broad.mit.edu	37	18	28714075	28714075	+	Missense_Mutation	SNP	C	C	T	rs538161979		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:28714075C>T	ENST00000257198.5	-	13	2156	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.R632H|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	632	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTGCCGTTGACGAAGAATGGC	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16361	0.0		0.0	False		,,,				2504	0.0					uc002kwn.2		NaN																	0				ovary(3)|skin(1)	4						c.(1894-1896)CGT>CAT		desmocollin 1 isoform Dsc1a preproprotein							85.0	87.0	86.0					18																	28714075		2203	4299	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28714075C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1895G>A	18.37:g.28714075C>T	ENSP00000257198:p.Arg632His					DSC1_uc002kwm.2_Missense_Mutation_p.R632H	p.R632H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		13	2157	-			632			Extracellular (Potential).|Cadherin 5.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1895G>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134676	0.37630	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.62364	0.03;0.03	5.62	3.46	0.39613	Cadherin (2);Cadherin-like (1);	0.371112	0.23284	N	0.049877	T	0.45418	0.1341	L	0.33339	1.005	0.34415	D	0.696869	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.51725	-0.8669	10	0.44086	T	0.13	.	5.0778	0.14640	0.0:0.667:0.0:0.333	.	632;632	Q08554;Q9HB00	DSC1_HUMAN;.	H	632	ENSP00000257197:R632H;ENSP00000257198:R632H	ENSP00000257197:R632H	R	-	2	0	DSC1	26968073	0.676000	0.27567	0.906000	0.35671	0.756000	0.42949	0.888000	0.28268	1.516000	0.48900	0.591000	0.81541	CGT		0.348	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1		NM_004948, NM_024421		31	30	0	0	0	1	0	31	30		
DSG3	1830	broad.mit.edu	37	18	29054237	29054237	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:29054237C>T	ENST00000257189.4	+	15	2338	c.2255C>T	c.(2254-2256)gCc>gTc	p.A752V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	752					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCGGAGCAGCCACTGGAGTT	0.537																																						uc002kws.2		NaN																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2254-2256)GCC>GTC		desmoglein 3 preproprotein							90.0	82.0	85.0					18																	29054237		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054237C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2255C>T	18.37:g.29054237C>T	ENSP00000257189:p.Ala752Val					DSG3_uc002kwt.2_Missense_Mutation_p.A34V	p.A752V	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2364	+			752			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2255C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	2.118	-0.402232	0.04865	.	.	ENSG00000134757	ENST00000257189	T	0.59083	0.29	4.54	1.6	0.23607	.	0.862805	0.09547	N	0.787438	T	0.38134	0.1029	N	0.22421	0.69	0.09310	N	1	P	0.36086	0.536	B	0.27380	0.079	T	0.05599	-1.0875	10	0.19590	T	0.45	.	11.692	0.51521	0.0:0.5741:0.3525:0.0734	.	752	P32926	DSG3_HUMAN	V	752	ENSP00000257189:A752V	ENSP00000257189:A752V	A	+	2	0	DSG3	27308235	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.348000	0.07740	-0.031000	0.13781	-1.151000	0.01829	GCC		0.537	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1		NM_001944		41	29	0	0	0	1	0	41	29		
MAPRE2	10982	broad.mit.edu	37	18	32682030	32682030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:32682030C>T	ENST00000300249.5	+	4	697	c.517C>T	c.(517-519)Cga>Tga	p.R173*	MAPRE2_ENST00000436190.2_Nonsense_Mutation_p.R161*|MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.R173*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.R130*|MAPRE2_ENST00000538170.2_Nonsense_Mutation_p.R120*|MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.R130*	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	173					cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGTAGAGGCACGACAAGGGCA	0.453																																						uc002kyg.2		NaN																	0				ovary(1)	1						c.(517-519)CGA>TGA		microtubule-associated protein, RP/EB family,							131.0	110.0	117.0					18																	32682030		2203	4300	6503	SO:0001587	stop_gained	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32682030C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.517C>T	18.37:g.32682030C>T	ENSP00000300249:p.Arg173*					MAPRE2_uc010xcb.1_Nonsense_Mutation_p.R130*|MAPRE2_uc010xcc.1_Nonsense_Mutation_p.R161*|MAPRE2_uc002kyf.2_Nonsense_Mutation_p.R173*|MAPRE2_uc002kyh.2_Nonsense_Mutation_p.R120*|MAPRE2_uc010xcd.1_Nonsense_Mutation_p.R130*	p.R173*	NM_014268	NP_055083	Q15555	MARE2_HUMAN			4	697	+			173					B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Nonsense_Mutation	SNP	ENST00000300249.5	37	c.517C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	38	6.962154	0.97967	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.473	19.1073	0.93301	0.0:1.0:0.0:0.0	.	.	.	.	X	130;161;173;120	.	ENSP00000300249:R173X	R	+	1	2	MAPRE2	30936028	0.996000	0.38824	0.998000	0.56505	0.989000	0.77384	3.158000	0.50723	2.518000	0.84900	0.561000	0.74099	CGA		0.453	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2		NM_014268		18	14	0	0	0	1	0	18	14		
KIAA1468	57614	broad.mit.edu	37	18	59888694	59888694	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:59888694T>G	ENST00000398130.2	+	5	1054	c.822T>G	c.(820-822)ctT>ctG	p.L274L	KIAA1468_ENST00000256858.6_Silent_p.L274L	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	274	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.									autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACTATAAGCTTACATCAATAA	0.294																																						uc002lil.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(820-822)CTT>CTG		hypothetical protein LOC57614							48.0	46.0	46.0					18																	59888694		1802	4061	5863	SO:0001819	synonymous_variant	57614						binding	g.chr18:59888694T>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.822T>G	18.37:g.59888694T>G						KIAA1468_uc002lik.1_Silent_p.L274L|KIAA1468_uc010xel.1_Silent_p.L274L|KIAA1468_uc002lim.2_5'UTR	p.L274L	NM_020854	NP_065905	Q9P260	K1468_HUMAN			5	1037	+		Colorectal(73;0.186)	274			LisH.			Silent	SNP	ENST00000398130.2	37	c.822T>G	CCDS11979.2																																																																																				0.294	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1		NM_020854		30	17	0	0	0	1	0	30	17		
MED16	10025	broad.mit.edu	37	19	876999	876999	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:876999G>T	ENST00000589119.1	-	8	1534	c.1535C>A	c.(1534-1536)aCg>aAg	p.T512K	MED16_ENST00000269814.4_Missense_Mutation_p.T512K|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.T512K|MED16_ENST00000395808.3_Missense_Mutation_p.T512K|MED16_ENST00000312090.6_Missense_Mutation_p.T512K			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	512					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCGCGTGTACTCCTC	0.697																																						uc002lqd.1		NaN																	0					0						c.(1534-1536)ACG>AAG		mediator complex subunit 16							43.0	36.0	39.0					19																	876999		2196	4293	6489	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:876999G>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1535C>A	19.37:g.876999G>T	ENSP00000464810:p.Thr512Lys					MED16_uc010drw.1_Missense_Mutation_p.T337K|MED16_uc002lqe.2_Missense_Mutation_p.T501K|MED16_uc002lqf.2_Missense_Mutation_p.T501K|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.T357K|MED16_uc010xfy.1_Intron	p.T512K	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1686	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	512					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1535C>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.294841	0.23564	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T	0.41758	1.56;0.99;0.99	3.8	2.45	0.29901	.	0.265491	0.41712	U	0.000832	T	0.34483	0.0899	L	0.48642	1.525	0.36411	D	0.863721	P;P;P;P	0.39665	0.491;0.632;0.491;0.682	B;B;B;B	0.42062	0.173;0.257;0.257;0.374	T	0.32079	-0.9920	10	0.25751	T	0.34	-9.7338	8.4655	0.32953	0.2311:0.0:0.7689:0.0	.	512;512;512;512	Q9Y2X0-2;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	K	512;512;512;512;368;273;271;230;512	ENSP00000325612:T512K;ENSP00000308528:T512K;ENSP00000379153:T512K	ENSP00000269814:T512K	T	-	2	0	MED16	827999	1.000000	0.71417	0.998000	0.56505	0.290000	0.27261	4.866000	0.63005	1.843000	0.53566	0.550000	0.68814	ACG		0.697	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3		NM_005481		4	3	1	0	0.00909568	1	0.00912667	4	3		
KHSRP	8570	broad.mit.edu	37	19	6427193	6427193	+	5'Flank	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:6427193C>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Silent_p.S287S	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GCGTCACAGACGACAGACTGA	0.627																																					Colon(55;593 1006 2067 9135 22980)	uc010dus.2		NaN																	0					0						c.(859-861)TCG>TCA		solute carrier family 25, member 41							24.0	29.0	28.0					19																	6427193		2106	4215	6321	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6427193C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427193C>T	Exception_encountered					KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.S149S	p.S287S	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN			6	947	-			287			Solcar 3.|Helical; Name=5; (Potential).		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.861G>A	CCDS45936.1																																																																																				0.627	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1				3	5	0	0	0	1	0	3	5		
ZNF557	79230	broad.mit.edu	37	19	7075710	7075710	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:7075710G>A	ENST00000439035.2	+	4	295	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ZNF557_ENST00000414706.1_Missense_Mutation_p.E26K|ZNF557_ENST00000252840.6_Missense_Mutation_p.E26K			Q8N988	ZN557_HUMAN	zinc finger protein 557	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGGACACACAGAGGGCGGAGA	0.522																																						uc002mgb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(55-57)GAG>AAG		zinc finger protein 557 isoform b							145.0	152.0	150.0					19																	7075710		2203	4300	6503	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7075710G>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.55G>A	19.37:g.7075710G>A	ENSP00000398965:p.Glu19Lys					ZNF557_uc002mga.2_Missense_Mutation_p.E26K|ZNF557_uc002mgc.2_Missense_Mutation_p.E26K	p.E19K	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	4	540	+			19					Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.55G>A	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	.	13.46	2.243537	0.39697	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.07114	3.24;3.24;3.22	1.08	1.08	0.20341	.	.	.	.	.	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	D;D	0.58620	0.971;0.983	B;P	0.45558	0.291;0.485	T	0.12915	-1.0529	9	0.06625	T	0.88	.	8.0181	0.30393	0.0:0.0:1.0:0.0	.	19;26	Q8N988;Q8N988-2	ZN557_HUMAN;.	K	26;26;19	ENSP00000252840:E26K;ENSP00000404065:E26K;ENSP00000398965:E19K	ENSP00000252840:E26K	E	+	1	0	ZNF557	7026710	0.001000	0.12720	0.004000	0.12327	0.075000	0.17131	-0.119000	0.10676	0.889000	0.36185	0.313000	0.20887	GAG		0.522	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1		NM_024341		30	16	0	0	0	1	0	30	16		
CCDC151	115948	broad.mit.edu	37	19	11533473	11533473	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:11533473G>A	ENST00000356392.4	-	9	1260	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	CCDC151_ENST00000586836.1_Silent_p.L200L|CCDC151_ENST00000591179.1_Silent_p.L331L|CCDC151_ENST00000545100.1_Silent_p.L337L	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	391										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCTCGCTCTTGAGCGTCTCCA	0.657																																						uc002mrs.2		NaN																	0				ovary(1)	1						c.(1171-1173)CTC>CTT		coiled-coil domain containing 151							44.0	50.0	48.0					19																	11533473		2065	4186	6251	SO:0001819	synonymous_variant	115948							g.chr19:11533473G>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1173C>T	19.37:g.11533473G>A						CCDC151_uc002mrr.2_Silent_p.L326L|CCDC151_uc010dxz.2_Silent_p.L331L	p.L391L	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			9	1316	-			391			Potential.		B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.1173C>T	CCDS42501.1																																																																																				0.657	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1		NM_145045		11	7	0	0	0	1	0	11	7		
CACNA1A	773	broad.mit.edu	37	19	13411423	13411423	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:13411423C>T	ENST00000360228.5	-	18	2219	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	CACNA1A_ENST00000573710.2_Silent_p.Q741Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	741					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTTGGCTTTCTGTAGGGCAA	0.522																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(2221-2223)CAG>CAA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						237.0	244.0	242.0					19																	13411423		2008	4177	6185	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13411423C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2220G>A	19.37:g.13411423C>T						CACNA1A_uc010dzc.2_Silent_p.Q266Q|CACNA1A_uc002mwy.3_Silent_p.Q740Q|CACNA1A_uc010xne.1_Silent_p.Q269Q	p.Q741Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		18	2459	-			741			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.2223G>A	CCDS45998.1																																																																																				0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		5	66	0	0	0	1	0	5	66		
OR7A5	26659	broad.mit.edu	37	19	14938996	14938996	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:14938996C>T	ENST00000322301.3	-	2	145	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.E20K			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	20					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGTCCAGGTTCTTGTGAAAAT	0.458																																						uc002mzw.2		NaN																	0				central_nervous_system(2)	2						c.(58-60)GAA>AAA		olfactory receptor, family 7, subfamily A,							51.0	49.0	49.0					19																	14938996		2202	4300	6502	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938996C>T	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.58G>A	19.37:g.14938996C>T	ENSP00000316955:p.Glu20Lys					OR7A5_uc010xoa.1_Missense_Mutation_p.E20K	p.E20K	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	281	-			20			Extracellular (Potential).		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.58G>A	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	10.17	1.276460	0.23307	.	.	ENSG00000188269	ENST00000322301	T	0.01076	5.37	3.13	0.967	0.19674	.	.	.	.	.	T	0.00784	0.0026	N	0.10837	0.055	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.47699	-0.9097	9	0.35671	T	0.21	.	4.6755	0.12710	0.0:0.5924:0.0:0.4076	.	20	Q15622	OR7A5_HUMAN	K	20	ENSP00000316955:E20K	ENSP00000316955:E20K	E	-	1	0	OR7A5	14799996	0.000000	0.05858	0.001000	0.08648	0.317000	0.28152	-1.522000	0.02237	0.687000	0.31509	0.134000	0.15878	GAA		0.458	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1		NM_017506		24	20	0	0	0	1	0	24	20		
RASAL3	64926	broad.mit.edu	37	19	15562865	15562865	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:15562865C>T	ENST00000343625.7	-	17	2968	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L	WIZ_ENST00000263381.7_5'Flank|MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000389282.4_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	961					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCAGGTTTTTCAGACTGTGCC	0.577																																						uc002nbe.2		NaN																	0					0						c.(2881-2883)CTG>CTA		RAS protein activator like 3							115.0	113.0	114.0					19																	15562865		1917	4145	6062	SO:0001819	synonymous_variant	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15562865C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2883G>A	19.37:g.15562865C>T						WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron	p.L961L	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			17	2969	-			961			Potential.		Q8N2T9|Q9H735	Silent	SNP	ENST00000343625.7	37	c.2883G>A	CCDS46006.1																																																																																				0.577	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3		NM_022904		25	45	0	0	0	1	0	25	45		
CILP2	148113	broad.mit.edu	37	19	19650526	19650526	+	Missense_Mutation	SNP	G	G	T	rs142743091		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:19650526G>T	ENST00000291495.5	+	2	188	c.103G>T	c.(103-105)Ggc>Tgc	p.G35C	CILP2_ENST00000586018.1_Missense_Mutation_p.G35C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GACTGCACTGGGCCTGGAAAG	0.667																																						uc002nmv.3		NaN																	0				ovary(1)	1						c.(103-105)GGC>TGC		cartilage intermediate layer protein 2							91.0	91.0	91.0					19																	19650526		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19650526G>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.103G>T	19.37:g.19650526G>T	ENSP00000291495:p.Gly35Cys					CILP2_uc002nmw.3_Missense_Mutation_p.G35C	p.G35C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			2	188	+			35					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.103G>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751186	0.69533	.	.	ENSG00000160161	ENST00000291495	T	0.55760	0.5	3.24	3.24	0.37175	.	0.140569	0.32218	N	0.006416	T	0.41811	0.1175	N	0.24115	0.695	0.40457	D	0.980201	D;D	0.64830	0.994;0.987	P;P	0.47075	0.536;0.533	T	0.46965	-0.9153	10	0.66056	D	0.02	-1.0353	10.2898	0.43588	0.0:0.0:1.0:0.0	.	35;35	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	35	ENSP00000291495:G35C	ENSP00000291495:G35C	G	+	1	0	CILP2	19511526	0.993000	0.37304	0.903000	0.35520	0.157000	0.22087	2.425000	0.44723	2.133000	0.65898	0.456000	0.33151	GGC		0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3		NM_153221		23	62	1	0	1.42536e-11	1	1.48066e-11	23	62		
ZNF714	148206	broad.mit.edu	37	19	21300833	21300833	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:21300833G>A	ENST00000596143.1	+	5	1688	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTACAAATGTGAAGAATGTGG	0.368																																						uc002npo.3		NaN																	0					0						c.(1366-1368)GAA>AAA		zinc finger protein 714							47.0	51.0	49.0					19																	21300833		2192	4297	6489	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300833G>A	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1363G>A	19.37:g.21300833G>A	ENSP00000472368:p.Glu455Lys					ZNF714_uc002npl.2_Missense_Mutation_p.E301K|ZNF714_uc010ecp.1_Missense_Mutation_p.E407K|ZNF714_uc002npn.2_RNA	p.E456K	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	1726	+			456			C2H2-type 13.		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.1366G>A	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	4.821	0.152628	0.09185	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	N	0.04260	-0.245	0.21220	N	0.999759	B;P;P	0.38129	0.016;0.619;0.478	B;B;B	0.37833	0.044;0.259;0.134	T	0.17137	-1.0379	8	0.25751	T	0.34	.	5.5047	0.16848	0.0:0.0:0.6742:0.3258	.	456;455;456	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	K	455	.	ENSP00000291770:E455K	E	+	1	0	ZNF714	21092673	0.000000	0.05858	0.339000	0.25562	0.320000	0.28249	-6.674000	0.00057	0.459000	0.27016	0.462000	0.41574	GAA		0.368	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1		NM_182515		21	43	0	0	0	1	0	21	43		
UPK1A	11045	broad.mit.edu	37	19	36159496	36159496	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36159496C>T	ENST00000222275.2	+	2	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	UPK1A_ENST00000379013.2_Silent_p.F75F|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	75					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCCTTCTTCATGGTAGCCA	0.597																																						uc002oaw.2		NaN																	0					0						c.(223-225)TTC>TTT		uroplakin 1A							103.0	77.0	86.0					19																	36159496		2203	4300	6503	SO:0001819	synonymous_variant	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36159496C>T	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.225C>T	19.37:g.36159496C>T						UPK1A_uc010eeh.2_Silent_p.F75F|uc002oax.1_Missense_Mutation_p.M17I	p.F75F	NM_007000	NP_008931	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	225	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		75			Helical; (Potential).		Q3KNU5|Q3KNU6	Silent	SNP	ENST00000222275.2	37	c.225C>T	CCDS12470.1																																																																																				0.597	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3				7	13	0	0	0	1	0	7	13		
KMT2B	9757	broad.mit.edu	37	19	36214671	36214671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36214671G>A	ENST00000222270.7	+	8	3097	c.3097G>A	c.(3097-3099)Gat>Aat	p.D1033N	KMT2B_ENST00000420124.1_Missense_Mutation_p.D1033N|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1033					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGGATTCCGATGAATCTCC	0.672																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(3097-3099)GAT>AAT		myeloid/lymphoid or mixed-lineage leukemia 4							10.0	11.0	11.0					19																	36214671		1711	3764	5475	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36214671G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3097G>A	19.37:g.36214671G>A	ENSP00000222270:p.Asp1033Asn						p.D1033N	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	3097	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1033					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3097G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417648	0.62622	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	.	0.000000	0.46145	D	0.000303	T	0.80757	0.4684	N	0.08118	0	0.40196	D	0.977467	D	0.76494	0.999	P	0.61070	0.883	T	0.82510	-0.0421	10	0.37606	T	0.19	.	17.0222	0.86437	0.0:0.0:1.0:0.0	.	1033	Q9UMN6	MLL4_HUMAN	N	1033	ENSP00000222270:D1033N;ENSP00000398837:D1033N	ENSP00000222270:D1033N	D	+	1	0	AD000671.1	40906511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.364000	0.66110	2.757000	0.94681	0.655000	0.94253	GAT		0.672	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		5	8	0	0	0	1	0	5	8		
IGFLR1	79713	broad.mit.edu	37	19	36231306	36231306	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36231306C>T	ENST00000592537.1	-	3	417	c.317G>A	c.(316-318)gGc>gAc	p.G106D	IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G106D|KMT2B_ENST00000607650.1_RNA|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CGGGGTTCTGCCCCCGCCCGC	0.706																																						uc002obc.2		NaN																	0					0						c.(316-318)GGC>GAC		transmembrane protein 149 precursor							11.0	13.0	12.0					19																	36231306		2113	4163	6276	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36231306C>T	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.317G>A	19.37:g.36231306C>T	ENSP00000466181:p.Gly106Asp					TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.G106D|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.G186D	p.G106D	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	418	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		106			Extracellular (Potential).		Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.317G>A	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506849	0.64410	.	.	ENSG00000126246	ENST00000246532	D	0.92299	-3.01	3.95	1.72	0.24424	.	0.767973	0.11957	N	0.513172	D	0.87305	0.6144	L	0.47716	1.5	0.18873	N	0.999989	P	0.51351	0.944	P	0.44811	0.461	T	0.76269	-0.3021	10	0.22109	T	0.4	-4.6262	4.7845	0.13219	0.2119:0.6732:0.0:0.1149	.	106	Q9H665	IGFR1_HUMAN	D	106	ENSP00000246532:G106D	ENSP00000246532:G106D	G	-	2	0	IGFLR1	40923146	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.372000	0.07504	0.414000	0.25790	-0.324000	0.08512	GGC		0.706	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1		NM_024660		5	20	0	0	0	1	0	5	20		
SUPT5H	6829	broad.mit.edu	37	19	39936594	39936594	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:39936594G>A	ENST00000599117.1	+	3	431	c.64G>A	c.(64-66)Gag>Aag	p.E22K	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E22K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E22K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E22K|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E22K			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	22	Glu-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGTGACGGCGAGGAGGCCGA	0.657																																						uc002olo.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(64-66)GAG>AAG		suppressor of Ty 5 homolog isoform a							60.0	53.0	55.0					19																	39936594		2202	4300	6502	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39936594G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.64G>A	19.37:g.39936594G>A	ENSP00000470252:p.Glu22Lys					SUPT5H_uc010xvb.1_Missense_Mutation_p.E22K|SUPT5H_uc002olp.3_Missense_Mutation_p.E22K|SUPT5H_uc002olq.3_Missense_Mutation_p.E22K|SUPT5H_uc002oln.3_Missense_Mutation_p.E22K|SUPT5H_uc002olr.3_Missense_Mutation_p.E22K	p.E22K	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	243	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		22			Glu-rich.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.64G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275113	0.95459	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.37	5.37	0.77165	.	0.129755	0.50627	D	0.000107	T	0.45895	0.1365	L	0.33485	1.01	0.80722	D	1	D;P;B	0.63046	0.992;0.456;0.327	B;B;B	0.43155	0.41;0.04;0.018	T	0.37888	-0.9686	8	.	.	.	-29.3725	18.2492	0.89997	0.0:0.0:1.0:0.0	.	22;22;22	B4DHJ8;O00267-2;O00267	.;.;SPT5H_HUMAN	K	22	.	.	E	+	1	0	SUPT5H	44628434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.946000	0.87746	2.676000	0.91093	0.655000	0.94253	GAG		0.657	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169		6	16	0	0	0	1	0	6	16		
GSK3A	2931	broad.mit.edu	37	19	42744259	42744259	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:42744259G>A	ENST00000222330.3	-	2	446	c.319C>T	c.(319-321)Cta>Tta	p.L107L	AC006486.9_ENST00000594664.1_Silent_p.L20L|AC006486.1_ENST00000378108.1_5'Flank|GSK3A_ENST00000398249.4_Silent_p.L25L	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	107					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCTTGGCCTAGAGTGGCTACG	0.587																																						uc002otb.1		NaN																	0				ovary(2)|lung(2)	4						c.(319-321)CTA>TTA		glycogen synthase kinase 3 alpha							129.0	106.0	114.0					19																	42744259		2203	4300	6503	SO:0001819	synonymous_variant	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42744259G>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.319C>T	19.37:g.42744259G>A						GSK3A_uc002ota.1_Silent_p.L25L|GSK3A_uc002otc.2_RNA	p.L107L	NM_019884	NP_063937	P49840	GSK3A_HUMAN			2	438	-		Prostate(69;0.00682)	107					O14959	Silent	SNP	ENST00000222330.3	37	c.319C>T	CCDS12599.1																																																																																				0.587	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1				18	40	0	0	0	1	0	18	40		
MEGF8	1954	broad.mit.edu	37	19	42839208	42839208	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:42839208G>A	ENST00000251268.6	+	4	580	c.580G>A	c.(580-582)Gag>Aag	p.E194K	MEGF8_ENST00000334370.4_Missense_Mutation_p.E194K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	194	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGCCGCTGTGAGCCTGGCTT	0.597																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(580-582)GAG>AAG		multiple EGF-like-domains 8							35.0	38.0	37.0					19																	42839208		2075	4212	6287	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42839208G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.580G>A	19.37:g.42839208G>A	ENSP00000251268:p.Glu194Lys					MEGF8_uc002otm.3_5'Flank	p.E194K	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			4	1215	+		Prostate(69;0.00682)	194			Extracellular (Potential).|EGF-like 2.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.580G>A		.	.	.	.	.	.	.	.	.	.	G	17.50	3.405493	0.62288	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20881	2.06;2.04	5.27	5.27	0.74061	.	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	B	0.19200	0.034	B	0.20577	0.03	T	0.19257	-1.0311	9	0.18710	T	0.47	.	14.4064	0.67086	0.0:0.0:1.0:0.0	.	194	Q7Z7M0-2	.	K	194	ENSP00000334219:E194K;ENSP00000251268:E194K	ENSP00000251268:E194K	E	+	1	0	MEGF8	47531048	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.639000	0.61361	2.478000	0.83669	0.479000	0.44913	GAG		0.597	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		9	16	0	0	0	1	0	9	16		
KLC3	147700	broad.mit.edu	37	19	45852790	45852790	+	Missense_Mutation	SNP	G	G	C	rs201109148		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:45852790G>C	ENST00000391946.2	+	8	1175	c.1073G>C	c.(1072-1074)cGg>cCg	p.R358P	KLC3_ENST00000470402.1_Missense_Mutation_p.R372P|KLC3_ENST00000585434.1_Missense_Mutation_p.R357P	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	358					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACTATGCCCGGGCCCTGAGC	0.637																																						uc002pbf.1		NaN																	0				ovary(1)	1						c.(1072-1074)CGG>CCG		kinesin light chain 3							44.0	50.0	48.0					19																	45852790		2108	4255	6363	SO:0001583	missense	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45852790G>C	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1073G>C	19.37:g.45852790G>C	ENSP00000375810:p.Arg358Pro					KLC3_uc010ejy.1_Missense_Mutation_p.R357P|KLC3_uc002pbg.1_Missense_Mutation_p.R372P	p.R358P	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	1188	+		Ovarian(192;0.0728)|all_neural(266;0.112)	358			TPR 4.		A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	c.1073G>C	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920073	0.73098	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.95035	-3.59;-3.59	3.94	3.94	0.45596	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000002	D	0.97996	0.9340	H	0.96048	3.76	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.98813	1.0744	10	0.87932	D	0	-5.1915	13.8987	0.63790	0.0:0.0:1.0:0.0	.	357;372;358	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	P	358;372	ENSP00000375810:R358P;ENSP00000436019:R372P	ENSP00000375810:R358P	R	+	2	0	KLC3	50544630	1.000000	0.71417	0.032000	0.17829	0.847000	0.48162	9.595000	0.98260	2.194000	0.70268	0.462000	0.41574	CGG		0.637	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1		NM_145275		11	60	0	0	0	1	0	11	60		
ERCC2	2068	broad.mit.edu	37	19	45872219	45872219	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:45872219T>C	ENST00000391945.4	-	4	292	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	ERCC2_ENST00000485403.2_Missense_Mutation_p.Y48C|ERCC2_ENST00000391940.4_Missense_Mutation_p.Y48C|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y72C|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y72C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	72	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCTTGAGCAGTAGATGAGTTT	0.577			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(214-216)TAC>TGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							161.0	144.0	149.0					19																	45872219		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45872219T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.215A>G	19.37:g.45872219T>C	ENSP00000375809:p.Tyr72Cys					ERCC2_uc010ejz.2_Missense_Mutation_p.Y72C|ERCC2_uc002pbk.2_Missense_Mutation_p.Y48C|ERCC2_uc002pbl.3_Missense_Mutation_p.Y48C|ERCC2_uc010xxj.1_RNA	p.Y72C	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	4	262	-		Ovarian(192;0.0728)|all_neural(266;0.112)	72			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.215A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145356	0.77888	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940;ENST00000221481	T;T;T;T	0.80304	-1.36;-0.63;-1.36;-1.36	5.44	4.36	0.52297	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	H	0.97265	3.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.87578	0.864;0.997;0.998	D	0.93325	0.6696	10	0.87932	D	0	-27.4131	9.4822	0.38908	0.1585:0.0:0.0:0.8415	.	72;48;72	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	C	22;48;72;72;48;72	ENSP00000375809:Y72C;ENSP00000375808:Y72C;ENSP00000375804:Y48C;ENSP00000221481:Y72C	ENSP00000221481:Y72C	Y	-	2	0	ERCC2	50564059	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.044000	0.64214	2.050000	0.60909	0.459000	0.35465	TAC		0.577	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		28	50	0	0	0	1	0	28	50		
CCDC8	83987	broad.mit.edu	37	19	46914757	46914757	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:46914757C>T	ENST00000307522.3	-	1	2084	c.1311G>A	c.(1309-1311)agG>agA	p.R437R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	437					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CAGCCTCTGCCCTCTGGCCAG	0.612																																						uc002pep.2		NaN																	0				ovary(3)	3						c.(1309-1311)AGG>AGA		coiled-coil domain containing 8							65.0	58.0	61.0					19																	46914757		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914757C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1311G>A	19.37:g.46914757C>T							p.R437R	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2163	-			437					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1311G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	4.490	0.090896	0.08632	.	.	ENSG00000169515	ENST00000540252	.	.	.	2.99	-0.452	0.12205	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.53878	-0.8376	5	0.56958	D	0.05	-0.2876	3.9595	0.09404	0.1886:0.5788:0.0:0.2325	.	.	.	.	E	284	.	ENSP00000441180:G284E	G	-	2	0	CCDC8	51606597	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.606000	0.05654	-0.011000	0.14247	0.511000	0.50034	GGG		0.612	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1		NM_032040		31	53	0	0	0	1	0	31	53		
SULT2A1	6822	broad.mit.edu	37	19	48374720	48374720	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:48374720A>G	ENST00000222002.3	-	6	989	c.850T>C	c.(850-852)Tgg>Cgg	p.W284R		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	284					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CGTTATTCCCATGGGAACAGC	0.433																																						uc002phr.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(850-852)TGG>CGG		bile-salt sulfotransferase 2A1							140.0	129.0	133.0					19																	48374720		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48374720A>G	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.850T>C	19.37:g.48374720A>G	ENSP00000222002:p.Trp284Arg						p.W284R	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	6	990	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	284						Missense_Mutation	SNP	ENST00000222002.3	37	c.850T>C	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678777	0.47886	.	.	ENSG00000105398	ENST00000222002	T	0.01629	4.72	4.23	4.23	0.50019	.	0.264528	0.26923	N	0.021809	T	0.12689	0.0308	H	0.94582	3.555	0.31827	N	0.625245	D	0.89917	1.0	D	0.97110	1.0	T	0.07829	-1.0752	10	0.87932	D	0	.	6.4764	0.22039	0.8916:0.0:0.1084:0.0	.	284	Q06520	ST2A1_HUMAN	R	284	ENSP00000222002:W284R	ENSP00000222002:W284R	W	-	1	0	SULT2A1	53066532	0.429000	0.25530	0.438000	0.26821	0.029000	0.11900	1.719000	0.38011	1.905000	0.55150	0.533000	0.62120	TGG		0.433	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1		NM_003167		15	34	0	0	0	1	0	15	34		
SPHK2	56848	broad.mit.edu	37	19	49132163	49132163	+	Silent	SNP	C	C	T	rs551364710		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:49132163C>T	ENST00000245222.4	+	7	1464	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	SPHK2_ENST00000600537.1_Silent_p.L307L|SPHK2_ENST00000599748.1_Silent_p.L330L|SPHK2_ENST00000443164.1_Silent_p.L428L|SPHK2_ENST00000599029.1_Silent_p.L330L|SPHK2_ENST00000340932.3_Silent_p.L328L|SPHK2_ENST00000598088.1_Silent_p.L366L	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	366					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCTGGGCCTCGCCACACTGC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12643	0.0		0.0	False		,,,				2504	0.0					uc002pjr.2		NaN																	0				lung(1)	1						c.(1096-1098)CTC>CTT		sphingosine kinase 2							64.0	64.0	64.0					19																	49132163		2203	4300	6503	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132163C>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1098C>T	19.37:g.49132163C>T						SPHK2_uc010xzt.1_Silent_p.L307L|SPHK2_uc002pjs.2_Silent_p.L366L|SPHK2_uc002pjt.2_Silent_p.L160L|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.L330L|SPHK2_uc002pjw.2_Silent_p.L428L	p.L366L	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1464	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	366					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1098C>T	CCDS12727.1																																																																																				0.667	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1				32	43	0	0	0	1	0	32	43		
RCN3	57333	broad.mit.edu	37	19	50046469	50046469	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50046469G>A	ENST00000270645.3	+	7	1433	c.986G>A	c.(985-987)tGa>tAa	p.*329*		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	0						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GATGAGCTGTGAGCACCGCGC	0.652																																						uc002poj.2		NaN																	0				ovary(1)	1						c.(985-987)TGA>TAA		reticulocalbin 3, EF-hand calcium binding domain							38.0	29.0	32.0					19																	50046469		2203	4299	6502	SO:0001819	synonymous_variant	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50046469G>A	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.986G>A	19.37:g.50046469G>A							p.*329*	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	7	1433	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	329					Q9HBZ8	Silent	SNP	ENST00000270645.3	37	c.986G>A	CCDS12771.1																																																																																				0.652	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1		NM_020650		8	10	0	0	0	1	0	8	10		
RRAS	6237	broad.mit.edu	37	19	50139972	50139972	+	Silent	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50139972C>A	ENST00000246792.3	-	4	459	c.357G>T	c.(355-357)gtG>gtT	p.V119V		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	119					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		AGAGCTTGCCCACCTCGTTGA	0.627																																						uc002pop.1		NaN																	0				ovary(1)	1						c.(355-357)GTG>GTT		related RAS viral (r-ras) oncogene homolog							86.0	67.0	73.0					19																	50139972		2203	4300	6503	SO:0001819	synonymous_variant	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50139972C>A		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.357G>T	19.37:g.50139972C>A							p.V119V	NM_006270	NP_006261	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	4	402	-			119					Q6FH12	Silent	SNP	ENST00000246792.3	37	c.357G>T	CCDS12774.1																																																																																				0.627	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1		NM_006270		17	31	1	0	5.3912e-06	1	5.4938e-06	17	31		
TSKS	60385	broad.mit.edu	37	19	50243401	50243401	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50243401C>T	ENST00000246801.3	-	10	1619	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	TSKS_ENST00000358830.3_Missense_Mutation_p.E313K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	513					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCAGGGCCTCTGCCCTGACG	0.647																																						uc002ppm.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1537-1539)GAG>AAG		testis-specific kinase substrate							55.0	58.0	57.0					19																	50243401		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243401C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1537G>A	19.37:g.50243401C>T	ENSP00000246801:p.Glu513Lys						p.E513K	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1548	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	513					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1537G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130406	0.77549	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.44482	0.92;0.92	4.68	4.68	0.58851	.	0.385117	0.22170	N	0.063648	T	0.49201	0.1543	N	0.24115	0.695	0.35335	D	0.785986	D	0.67145	0.996	D	0.76071	0.987	T	0.61004	-0.7150	10	0.66056	D	0.02	-18.2942	12.9555	0.58425	0.0:1.0:0.0:0.0	.	513	Q9UJT2	TSKS_HUMAN	K	513;313	ENSP00000246801:E513K;ENSP00000351691:E313K	ENSP00000246801:E513K	E	-	1	0	TSKS	54935213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.699000	0.54778	2.421000	0.82119	0.514000	0.50259	GAG		0.647	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1		NM_021733		22	65	0	0	0	1	0	22	65		
FUZ	80199	broad.mit.edu	37	19	50315567	50315567	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50315567C>T	ENST00000313777.4	-	3	422	c.259G>A	c.(259-261)Gag>Aag	p.E87K	FUZ_ENST00000528094.1_Intron|FUZ_ENST00000533418.1_Missense_Mutation_p.E37K|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000526575.1_Intron|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Missense_Mutation_p.E87K	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	87					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		ATGCCCACCTCAGATGACAGA	0.522																																						uc002ppq.1		NaN																	0					0						c.(259-261)GAG>AAG		fuzzy homolog							88.0	70.0	76.0					19																	50315567		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50315567C>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.259G>A	19.37:g.50315567C>T	ENSP00000313309:p.Glu87Lys					FUZ_uc002ppr.1_5'UTR|FUZ_uc002pps.1_Intron|FUZ_uc002ppt.1_Intron|FUZ_uc002ppu.1_Intron|FUZ_uc002ppv.1_Missense_Mutation_p.E37K|FUZ_uc010ybd.1_Missense_Mutation_p.E87K	p.E87K	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	3	364	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	87					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.259G>A	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908965	0.52439	.	.	ENSG00000010361	ENST00000533418;ENST00000529634;ENST00000313777;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T	0.63744	-0.06;-0.06;-0.06	4.74	4.74	0.60224	.	0.287715	0.32624	N	0.005847	T	0.69984	0.3172	L	0.47716	1.5	0.41171	D	0.986162	D;B	0.64830	0.994;0.169	P;B	0.61397	0.888;0.053	T	0.69971	-0.5000	10	0.42905	T	0.14	-18.5305	14.8044	0.69942	0.0:1.0:0.0:0.0	.	87;87	B4DHF8;Q9BT04	.;FUZZY_HUMAN	K	37;87;87;87;37;87	ENSP00000431731:E37K;ENSP00000313309:E87K;ENSP00000408018:E87K	ENSP00000313309:E87K	E	-	1	0	FUZ	55007379	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	3.917000	0.56424	2.487000	0.83934	0.456000	0.33151	GAG		0.522	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1		NM_025129		6	28	0	0	0	1	0	6	28		
SIGLEC5	8778	broad.mit.edu	37	19	52132666	52132666	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:52132666C>T	ENST00000534261.2	-	4	1044	c.645G>A	c.(643-645)atG>atA	p.M215I	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.M215I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.M215I|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.M215I|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.M215I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	215	Ig-like C2-type 1.		M -> V (in dbSNP:rs1807124).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGGCGTTTCATCTGACAGG	0.632																																						uc002pxe.2		NaN																	0				skin(2)|breast(1)|central_nervous_system(1)	4						c.(643-645)ATG>ATA		sialic acid binding Ig-like lectin 5 precursor							121.0	108.0	113.0					19																	52132666		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52132666C>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.645G>A	19.37:g.52132666C>T	ENSP00000473238:p.Met215Ile						p.M215I	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	3	784	-		all_neural(266;0.0726)	215			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000534261.2	37	c.645G>A	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333091	0.24167	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.02916	4.11;4.11	3.69	1.4	0.22301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42682	D	0.000676	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44329	-0.9335	10	0.72032	D	0.01	.	4.8875	0.13710	0.0:0.655:0.2198:0.1251	.	215	O15389	SIGL5_HUMAN	I	215	ENSP00000222107:M215I;ENSP00000415200:M215I	ENSP00000222107:M215I	M	-	3	0	SIGLEC5	56824478	0.001000	0.12720	0.003000	0.11579	0.028000	0.11728	-0.159000	0.10056	0.304000	0.22809	0.491000	0.48974	ATG		0.632	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2		NM_003830		13	38	0	0	0	1	0	13	38		
ZNF665	79788	broad.mit.edu	37	19	53668818	53668818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:53668818G>A	ENST00000600412.1	-	2	845	c.730C>T	c.(730-732)Cga>Tga	p.R244*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R309*|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGACTTGCA	0.428																																						uc010eqm.1		NaN																	0				ovary(2)	2						c.(925-927)CGA>TGA		zinc finger protein 665							124.0	132.0	129.0					19																	53668818		2203	4300	6503	SO:0001587	stop_gained	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668818G>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.730C>T	19.37:g.53668818G>A	ENSP00000469154:p.Arg244*						p.R309*	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1025	-			244			C2H2-type 5.		A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	37	c.925C>T		.	.	.	.	.	.	.	.	.	.	G	17.83	3.485998	0.63962	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.41	1.31	0.21738	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	5.933	0.19150	0.0:0.2125:0.5699:0.2176	.	.	.	.	X	309	.	ENSP00000379702:R309X	R	-	1	2	ZNF665	58360630	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.014000	0.13333	0.322000	0.23283	0.436000	0.28706	CGA		0.428	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1		NM_024733		59	136	0	0	0	1	0	59	136		
RRM2	6241	broad.mit.edu	37	2	10269168	10269168	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:10269168G>A	ENST00000304567.5	+	9	973	c.904G>A	c.(904-906)Gag>Aag	p.E302K	RRM2_ENST00000360566.2_Splice_Site_p.E362K	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	302					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TGGTTCCTAGGAGTTCCTCAC	0.438																																						uc002rah.2		NaN																	0					0						c.(904-906)GAG>AAG		ribonucleotide reductase M2 polypeptide isoform							161.0	162.0	162.0					2																	10269168		2203	4300	6503	SO:0001630	splice_region_variant	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10269168G>A		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.904-1G>A	2.37:g.10269168G>A							p.E302K	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	9	1095	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		302					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.904G>A	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482567	0.84747	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97620	-4.46;-4.46;-4.35	6.04	6.04	0.98038	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.045211	0.85682	N	0.000000	D	0.98021	0.9348	H	0.95679	3.705	0.80722	D	1	B	0.24768	0.111	B	0.29716	0.106	D	0.96244	0.9178	9	.	.	.	-0.1369	20.6437	0.99549	0.0:0.0:1.0:0.0	.	302	P31350	RIR2_HUMAN	K	362;302;252	ENSP00000353770:E362K;ENSP00000302955:E302K;ENSP00000419177:E252K	.	E	+	1	0	RRM2	10186619	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.231000	0.95317	2.890000	0.99128	0.650000	0.86243	GAG		0.438	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			Missense_Mutation	37	86	0	0	0	1	0	37	86		
C2orf48	348738	broad.mit.edu	37	2	10350668	10350668	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:10350668C>T	ENST00000381786.3	+	4	714	c.425C>T	c.(424-426)aCa>aTa	p.T142I		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	142										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CTGGACTCCACACAGGCCTGC	0.567																																						uc002rai.1		NaN																	0					0						c.(424-426)ACA>ATA		hypothetical protein LOC348738							59.0	65.0	63.0					2																	10350668		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350668C>T	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.425C>T	2.37:g.10350668C>T	ENSP00000371205:p.Thr142Ile						p.T142I	NM_182626	NP_872432	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	714	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		142						Missense_Mutation	SNP	ENST00000381786.3	37	c.425C>T	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743849	0.15642	.	.	ENSG00000163009	ENST00000381786	T	0.37058	1.22	1.36	1.36	0.22044	.	.	.	.	.	T	0.27629	0.0679	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.54889	0.763	T	0.09487	-1.0672	9	0.87932	D	0	.	6.1241	0.20170	0.0:1.0:0.0:0.0	.	142	Q96LS8	CB048_HUMAN	I	142	ENSP00000371205:T142I	ENSP00000371205:T142I	T	+	2	0	C2orf48	10268119	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.146000	0.16180	1.056000	0.40484	0.549000	0.68633	ACA		0.567	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1		NM_182626		31	61	0	0	0	1	0	31	61		
LAPTM4A	9741	broad.mit.edu	37	2	20237361	20237361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:20237361G>C	ENST00000175091.4	-	3	754	c.247C>G	c.(247-249)Ctt>Gtt	p.L83V		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	83					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCAAAAAGAACACAGGCA	0.289																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.2		NaN																	0				ovary(1)	1						c.(247-249)CTT>GTT		lysosomal protein transmembrane 4 alpha							81.0	81.0	81.0					2																	20237361		2202	4299	6501	SO:0001583	missense	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20237361G>C	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.247C>G	2.37:g.20237361G>C	ENSP00000175091:p.Leu83Val					LAPTM4A_uc002rdn.2_Missense_Mutation_p.L41V|LAPTM4A_uc010yjx.1_Missense_Mutation_p.L73V	p.L83V	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			3	755	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		83			Helical; (Potential).		Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	c.247C>G	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691496	0.68271	.	.	ENSG00000068697	ENST00000175091	T	0.60424	0.19	5.84	4.96	0.65561	.	0.108717	0.64402	D	0.000010	T	0.65228	0.2671	M	0.63428	1.95	0.46749	D	0.999184	D;D	0.54964	0.969;0.969	P;P	0.56163	0.793;0.793	T	0.62282	-0.6887	10	0.14252	T	0.57	-16.0089	14.1193	0.65177	0.0716:0.0:0.9284:0.0	.	73;83	B4E2U6;Q15012	.;LAP4A_HUMAN	V	83	ENSP00000175091:L83V	ENSP00000175091:L83V	L	-	1	0	LAPTM4A	20100842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.472000	0.53114	1.616000	0.50265	0.650000	0.86243	CTT		0.289	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1		NM_014713		13	21	0	0	0	1	0	13	21		
ITSN2	50618	broad.mit.edu	37	2	24521660	24521660	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:24521660T>C	ENST00000355123.4	-	13	1811	c.1368A>G	c.(1366-1368)cgA>cgG	p.R456R	ITSN2_ENST00000361999.3_Silent_p.R456R|ITSN2_ENST00000406921.3_Silent_p.R456R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	456					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCGACGTTGTCGTTCAAGTT	0.338																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1366-1368)CGA>CGG		intersectin 2 isoform 1							108.0	111.0	110.0					2																	24521660		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24521660T>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1368A>G	2.37:g.24521660T>C						ITSN2_uc002rff.2_Silent_p.R456R|ITSN2_uc002rfg.2_Silent_p.R456R|ITSN2_uc010eyd.2_Silent_p.R481R	p.R456R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			13	1626	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		456			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.1368A>G	CCDS1710.2																																																																																				0.338	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		25	64	0	0	0	1	0	25	64		
GPR113	165082	broad.mit.edu	37	2	26533881	26533881	+	Nonsense_Mutation	SNP	G	G	T	rs566087671		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:26533881G>T	ENST00000311519.1	-	11	2714	c.2715C>A	c.(2713-2715)taC>taA	p.Y905*	GPR113_ENST00000541401.1_Nonsense_Mutation_p.Y508*|GPR113_ENST00000421160.2_Nonsense_Mutation_p.Y836*|GPR113_ENST00000333478.6_Nonsense_Mutation_p.Y706*|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	905					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGAGGTAGGTAGAGCCCCA	0.607																																						uc002rhe.3		NaN																	0				ovary(4)	4						c.(2713-2715)TAC>TAA		G-protein coupled receptor 113 isoform 1							43.0	40.0	41.0					2																	26533881		2203	4300	6503	SO:0001587	stop_gained	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26533881G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2715C>A	2.37:g.26533881G>T	ENSP00000307831:p.Tyr905*					GPR113_uc010yky.1_Nonsense_Mutation_p.Y836*|GPR113_uc002rhb.1_Nonsense_Mutation_p.Y508*|GPR113_uc010eyk.1_Nonsense_Mutation_p.Y706*|GPR113_uc002rhc.1_Nonsense_Mutation_p.Y508*|GPR113_uc002rhd.1_RNA	p.Y905*	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			11	2715	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		905			Extracellular (Potential).		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Nonsense_Mutation	SNP	ENST00000311519.1	37	c.2715C>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	42	9.692797	0.99240	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	.	.	.	5.78	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.45139	D	0.998155	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.3315	7.9267	0.29878	0.3239:0.0:0.6761:0.0	.	.	.	.	X	508;706;836;905	.	ENSP00000307831:Y905X	Y	-	3	2	GPR113	26387385	0.026000	0.19158	0.990000	0.47175	0.986000	0.74619	0.298000	0.19120	0.356000	0.24157	0.650000	0.86243	TAC		0.607	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1		NM_153835		12	8	1	0	1.08611e-07	1	1.11449e-07	12	8		
PPP1CB	5500	broad.mit.edu	37	2	29004678	29004678	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:29004678G>C	ENST00000395366.2	+	4	762	c.490G>C	c.(490-492)Gtg>Ctg	p.V164L	PPP1CB_ENST00000358506.2_Missense_Mutation_p.V164L|PPP1CB_ENST00000296122.6_Missense_Mutation_p.V164L	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	164					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGCAGCCATTGTGGATGAGAA	0.313																																						uc002rmg.2		NaN																	0				skin(1)	1						c.(490-492)GTG>CTG		protein phosphatase 1, catalytic subunit, beta							101.0	101.0	101.0					2																	29004678		2203	4299	6502	SO:0001583	missense	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29004678G>C		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.490G>C	2.37:g.29004678G>C	ENSP00000378769:p.Val164Leu					PPP1CB_uc010ymj.1_Missense_Mutation_p.V136L|PPP1CB_uc010ymk.1_Missense_Mutation_p.V136L|PPP1CB_uc010yml.1_Missense_Mutation_p.V136L|PPP1CB_uc002rmh.2_Missense_Mutation_p.V164L|SPDYA_uc002rmi.2_5'Flank	p.V164L	NM_206876	NP_996759	P62140	PP1B_HUMAN			5	650	+	Acute lymphoblastic leukemia(172;0.155)		164					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	c.490G>C	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729392	0.69074	.	.	ENSG00000213639	ENST00000455580;ENST00000358506;ENST00000296122;ENST00000395366;ENST00000418910	T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43	5.77	5.77	0.91146	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.117006	0.64402	D	0.000020	T	0.15262	0.0368	M	0.70275	2.135	0.52099	D	0.999943	B;B	0.20459	0.045;0.004	B;B	0.31245	0.126;0.041	T	0.02257	-1.1187	10	0.72032	D	0.01	-12.0404	20.3626	0.98863	0.0:0.0:1.0:0.0	.	136;164	B4E163;P62140	.;PP1B_HUMAN	L	136;164;164;164;39	ENSP00000390715:V136L;ENSP00000351298:V164L;ENSP00000296122:V164L;ENSP00000378769:V164L;ENSP00000388056:V39L	ENSP00000296122:V164L	V	+	1	0	PPP1CB	28858182	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.341000	0.65964	2.885000	0.99019	0.655000	0.94253	GTG		0.313	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1				11	38	0	0	0	1	0	11	38		
FAM179A	165186	broad.mit.edu	37	2	29245089	29245089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:29245089C>T	ENST00000379558.4	+	11	1777	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.L421F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	476										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGATGGATCTTAGAGCCTG	0.542																																						uc010ezl.2		NaN																	0				ovary(3)|skin(1)	4						c.(1426-1428)CTT>TTT		hypothetical protein LOC165186							118.0	120.0	119.0					2																	29245089		2028	4198	6226	SO:0001583	missense	165186						binding	g.chr2:29245089C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1426C>T	2.37:g.29245089C>T	ENSP00000368876:p.Leu476Phe					FAM179A_uc010ymm.1_Missense_Mutation_p.L421F|FAM179A_uc002rmr.3_Missense_Mutation_p.L3F	p.L476F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			11	1777	+			476					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1426C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395166	0.42512	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.67865	-0.29;2.82	3.78	2.89	0.33648	Armadillo-type fold (1);	1.192260	0.06068	N	0.659535	T	0.56558	0.1993	N	0.19112	0.55	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.54100	0.742;0.556	T	0.50432	-0.8829	10	0.10902	T	0.67	.	2.3989	0.04396	0.1884:0.4849:0.2189:0.1078	.	421;476	F8W8E4;Q6ZUX3	.;F179A_HUMAN	F	476;421	ENSP00000368876:L476F;ENSP00000384699:L421F	ENSP00000368876:L476F	L	+	1	0	FAM179A	29098593	0.000000	0.05858	0.002000	0.10522	0.919000	0.55068	0.516000	0.22817	1.141000	0.42275	0.549000	0.68633	CTT		0.542	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4		NM_199280		29	59	0	0	0	1	0	29	59		
LTBP1	4052	broad.mit.edu	37	2	33589339	33589339	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:33589339G>A	ENST00000404816.2	+	30	4809	c.4456G>A	c.(4456-4458)Gag>Aag	p.E1486K	LTBP1_ENST00000390003.4_Missense_Mutation_p.E1161K|LTBP1_ENST00000407925.1_Missense_Mutation_p.E1160K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E1105K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E1107K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1487K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E1118K|LTBP1_ENST00000272273.5_Missense_Mutation_p.E384K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1486	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTTAATACAGAGGGCTCTTA	0.423																																						uc002ros.2		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4459-4461)GAG>AAG		latent transforming growth factor beta binding							147.0	144.0	145.0					2																	33589339		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33589339G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4456G>A	2.37:g.33589339G>A	ENSP00000386043:p.Glu1486Lys					LTBP1_uc002rot.2_Missense_Mutation_p.E1161K|LTBP1_uc002rou.2_Missense_Mutation_p.E1160K|LTBP1_uc002rov.2_Missense_Mutation_p.E1107K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1118K|LTBP1_uc010yna.1_Missense_Mutation_p.E1065K|LTBP1_uc010ynb.1_Missense_Mutation_p.E384K	p.E1487K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			30	4459	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1486			EGF-like 16; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4459G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625956	0.87560	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92779	0.7704	N	0.17248	0.465	0.46774	D	0.999191	P;D;D;D;D;D;D	0.76494	0.902;0.996;0.999;0.984;0.998;0.999;0.992	P;D;D;P;D;D;D	0.85130	0.449;0.964;0.993;0.79;0.948;0.997;0.94	D	0.93683	0.7000	9	0.51188	T	0.08	.	19.152	0.93493	0.0:0.0:1.0:0.0	.	384;1486;1118;1107;1160;1161;1487	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	K	1486;1487;1161;1118;1105;1107;1160;384	ENSP00000386043:E1486K;ENSP00000346467:E1487K;ENSP00000374653:E1161K;ENSP00000393057:E1118K;ENSP00000384373:E1105K;ENSP00000385359:E1107K;ENSP00000384091:E1160K;ENSP00000272273:E384K	ENSP00000272273:E384K	E	+	1	0	LTBP1	33442843	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.874000	0.87199	2.511000	0.84671	0.557000	0.71058	GAG		0.423	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943		24	37	0	0	0	1	0	24	37		
TTC7A	57217	broad.mit.edu	37	2	47177528	47177528	+	Missense_Mutation	SNP	G	G	A	rs147914967		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:47177528G>A	ENST00000319190.5	+	2	579	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TTC7A_ENST00000394850.2_Missense_Mutation_p.E71K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E37K|TTC7A_ENST00000536057.1_Missense_Mutation_p.E71K|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	71					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTGCTGGCTGAGGCCCTCCT	0.502																																						uc002rvo.2		NaN																	0				breast(1)|skin(1)	2						c.(211-213)GAG>AAG		tetratricopeptide repeat domain 7A		G	LYS/GLU	0,4406		0,0,2203	168.0	177.0	174.0		211	5.6	1.0	2	dbSNP_134	174	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC7A	NM_020458.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	71/859	47177528	1,13005	2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47177528G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.211G>A	2.37:g.47177528G>A	ENSP00000316699:p.Glu71Lys					TTC7A_uc002rvm.2_Missense_Mutation_p.E37K|TTC7A_uc002rvn.1_5'UTR|TTC7A_uc010fbb.2_Missense_Mutation_p.E71K|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_5'UTR	p.E71K	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		2	579	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	71					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.211G>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669800	0.96754	0.0	1.16E-4	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000536057	T;T;T	0.62105	0.96;0.59;0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.91635	0.985;0.994;0.999	T	0.79754	-0.1670	10	0.87932	D	0	-26.7948	19.2868	0.94082	0.0:0.0:1.0:0.0	.	71;71;37	Q2T9J9;Q9ULT0;G5E9G4	.;TTC7A_HUMAN;.	K	37;71;71;71	ENSP00000386307:E37K;ENSP00000316699:E71K;ENSP00000378320:E71K	ENSP00000316699:E71K	E	+	1	0	TTC7A	47031032	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	8.563000	0.90723	2.885000	0.99019	0.655000	0.94253	GAG		0.502	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2		XM_372927		64	96	0	0	0	1	0	64	96		
CHAC2	494143	broad.mit.edu	37	2	53992675	53992675	+	5'Flank	SNP	G	G	C	rs146004165	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:53992675G>C	ENST00000295304.4	+	0	0				GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.S50C|ASB3_ENST00000406625.2_Missense_Mutation_p.S47C|GPR75-ASB3_ENST00000263634.3_Missense_Mutation_p.S12C|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)											endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCAACTGTAGAGCACGTGTC	0.428																																						uc002rxg.1		NaN																	0				ovary(1)|kidney(1)	2						c.(34-36)TCT>TGT		ankyrin repeat and SOCS box-containing protein 3		G	CYS/SER,CYS/SER,,	0,4406		0,0,2203	151.0	132.0	139.0		149,35,,	5.4	1.0	2	dbSNP_134	139	3,8597	2.2+/-6.3	0,3,4297	yes	missense,missense,intron,intron	ASB3,GPR75-ASB3	NM_001164165.1,NM_016115.4,NM_001201965.1,NM_145863.2	112,112,,	0,3,6500	CC,CG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,,	50/557,12/519,,	53992675	3,13003	2203	4300	6503	SO:0001631	upstream_gene_variant	51130				intracellular signal transduction			g.chr2:53992675G>C	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824		2.37:g.53992675G>C	Exception_encountered					ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.S50C|ASB3_uc010yoo.1_Missense_Mutation_p.S12C|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	p.S12C	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	170	-			12			ANK 1.		Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.35C>G	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084499	0.55861	0.0	3.49E-4	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000352846;ENST00000446049	T;T;T	0.70631	-0.5;-0.44;-0.49	5.36	5.36	0.76844	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	M	0.87758	2.905	0.37438	D	0.914307	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88471	0.3062	9	0.87932	D	0	-11.1168	18.8715	0.92317	0.0:0.0:1.0:0.0	.	12;47;12	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	C	12;47;50;12	ENSP00000263634:S12C;ENSP00000385085:S47C;ENSP00000313756:S50C	ENSP00000263634:S12C	S	-	2	0	ASB3	53846179	1.000000	0.71417	0.967000	0.41034	0.189000	0.23516	6.875000	0.75551	2.774000	0.95407	0.655000	0.94253	TCT		0.428	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1		NM_001008708		37	76	0	0	0	1	0	37	76		
PNPT1	87178	broad.mit.edu	37	2	55882034	55882034	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:55882034C>T	ENST00000447944.2	-	18	1582		c.e18+1			NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATTCTTTTACCTGAATCCAT	0.413																																						uc002rzf.2		NaN																	0					0						c.e18+1		polyribonucleotide nucleotidyltransferase 1							70.0	74.0	73.0					2																	55882034		2203	4300	6503	SO:0001630	splice_region_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55882034C>T	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1495+1G>A	2.37:g.55882034C>T						PNPT1_uc002rzg.2_Splice_Site	p.G499_splice	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		18	1548	-								Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Splice_Site	SNP	ENST00000447944.2	37	c.1495_splice	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232700	0.79688	.	.	ENSG00000138035	ENST00000447944	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5834	0.91180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNPT1	55735538	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.005000	0.76323	2.457000	0.83068	0.655000	0.94253	.		0.413	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2		NM_033109	Intron	20	51	0	0	0	1	0	20	51		
USP34	9736	broad.mit.edu	37	2	61431458	61431458	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:61431458C>T	ENST00000398571.2	-	74	9393	c.9317G>A	c.(9316-9318)aGc>aAc	p.S3106N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3106					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCGAATATTGCTTTTCCCTCC	0.408																																						uc002sbe.2		NaN																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(9316-9318)AGC>AAC		ubiquitin specific protease 34							113.0	108.0	110.0					2																	61431458		1861	4110	5971	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61431458C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9317G>A	2.37:g.61431458C>T	ENSP00000381577:p.Ser3106Asn					USP34_uc002sbd.2_Intron	p.S3106N	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		74	9339	-			3106					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9317G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	6.596	0.478401	0.12521	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	T	0.03358	3.96	6.03	6.03	0.97812	.	0.077564	0.85682	D	0.000000	T	0.02380	0.0073	N	0.01874	-0.695	0.47949	D	0.999552	B	0.06786	0.001	B	0.04013	0.001	T	0.62941	-0.6747	10	0.25106	T	0.35	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	3106	Q70CQ2	UBP34_HUMAN	N	2954;2871;3106;3	ENSP00000381577:S3106N	ENSP00000263989:S2954N	S	-	2	0	USP34	61284962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.613000	0.61176	2.868000	0.98415	0.557000	0.71058	AGC		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				25	42	0	0	0	1	0	25	42		
PLEK	5341	broad.mit.edu	37	2	68592492	68592492	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:68592492A>G	ENST00000234313.7	+	1	188	c.9A>G	c.(7-9)ccA>ccG	p.P3P	AC015969.3_ENST00000366218.2_RNA	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	3					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATGGAACCAAAGCGGATCA	0.597																																						uc002sen.3		NaN																	0				ovary(1)	1						c.(7-9)CCA>CCG		pleckstrin							133.0	111.0	118.0					2																	68592492		2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68592492A>G	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.9A>G	2.37:g.68592492A>G						PLEK_uc010fde.2_Silent_p.P3P	p.P3P	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	1	171	+		Ovarian(717;0.0129)	3					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.9A>G	CCDS1887.1																																																																																				0.597	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1		NM_002664		32	47	0	0	0	1	0	32	47		
ATP6V1B1	525	broad.mit.edu	37	2	71192177	71192177	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:71192177C>T	ENST00000234396.4	+	14	1541	c.1468C>T	c.(1468-1470)Ccg>Tcg	p.P490S	RN7SL160P_ENST00000468558.2_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.P473S|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	490					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GAAGCGCATTCCGCAGGCCGT	0.662											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002shj.2		NaN																	0				skin(1)	1						c.(1468-1470)CCG>TCG		ATPase, H+ transporting, lysosomal 56/58kDa, V1							48.0	52.0	51.0					2																	71192177		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71192177C>T	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1468C>T	2.37:g.71192177C>T	ENSP00000234396:p.Pro490Ser		OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.P473S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.P448S	p.P490S	NM_001692	NP_001683	P15313	VATB1_HUMAN			14	1555	+			490					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.1468C>T	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035168	0.35893	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000433895	T;T;T	0.75050	-0.9;-0.9;-0.9	3.95	3.95	0.45737	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.52532	D	0.000074	T	0.68329	0.2989	L	0.46741	1.465	0.58432	D	0.999991	B;B;B	0.18013	0.025;0.022;0.022	B;B;B	0.24974	0.052;0.034;0.057	T	0.66854	-0.5818	10	0.40728	T	0.16	-26.8699	13.5523	0.61738	0.0:1.0:0.0:0.0	.	465;473;490	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	S	490;465;473;95	ENSP00000234396:P490S;ENSP00000388353:P473S;ENSP00000407840:P95S	ENSP00000234396:P490S	P	+	1	0	ATP6V1B1	71045685	1.000000	0.71417	0.997000	0.53966	0.350000	0.29205	7.651000	0.83577	2.029000	0.59856	0.557000	0.71058	CCG		0.662	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692		26	37	0	0	0	1	0	26	37		
TTC31	64427	broad.mit.edu	37	2	74718624	74718624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:74718624C>T	ENST00000233623.5	+	8	708	c.701C>T	c.(700-702)tCt>tTt	p.S234F	TTC31_ENST00000442235.2_Missense_Mutation_p.S90F|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000410003.1_Missense_Mutation_p.S234F	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	234										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTGGATCTATCTAGCACTTTT	0.542																																						uc002slt.2		NaN																	0					0						c.(700-702)TCT>TTT		tetratricopeptide repeat domain 31							296.0	290.0	292.0					2																	74718624		1936	4130	6066	SO:0001583	missense	64427						binding	g.chr2:74718624C>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.701C>T	2.37:g.74718624C>T	ENSP00000233623:p.Ser234Phe					TTC31_uc002sls.2_Missense_Mutation_p.S163F|TTC31_uc010yrv.1_Missense_Mutation_p.S90F|TTC31_uc002slu.2_Missense_Mutation_p.S90F	p.S234F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN			8	724	+			234					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.701C>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308430	0.60305	.	.	ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623	T;T;T	0.65364	1.1;0.56;-0.15	4.2	4.2	0.49525	.	0.000000	0.50627	D	0.000111	T	0.67562	0.2906	L	0.29908	0.895	0.26485	N	0.975042	D;D;D;D	0.89917	1.0;0.995;0.998;1.0	D;D;D;D	0.91635	0.999;0.979;0.993;0.998	T	0.60321	-0.7286	10	0.87932	D	0	.	12.225	0.54455	0.0:1.0:0.0:0.0	.	90;204;234;163	B4DZV1;Q86XF2;Q49AM3;F5H175	.;.;TTC31_HUMAN;.	F	163;234;234;90;234	ENSP00000387213:S234F;ENSP00000416823:S90F;ENSP00000233623:S234F	ENSP00000233623:S234F	S	+	2	0	TTC31	74572132	0.065000	0.20965	0.596000	0.28811	0.798000	0.45092	1.948000	0.40303	2.330000	0.79161	0.561000	0.74099	TCT		0.542	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1		NM_022492		88	183	0	0	0	1	0	88	183		
IMMT	10989	broad.mit.edu	37	2	86374830	86374830	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:86374830C>T	ENST00000410111.3	-	13	1915	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	IMMT_ENST00000449247.2_Missense_Mutation_p.E499K|IMMT_ENST00000254636.5_Missense_Mutation_p.E411K|IMMT_ENST00000442664.2_Missense_Mutation_p.E509K|IMMT_ENST00000409051.2_Missense_Mutation_p.E463K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	510					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCACCTGCTCAAATTCAGAC	0.483																																						uc002sqz.3		NaN																	0				skin(1)	1						c.(1528-1530)GAG>AAG		inner membrane protein, mitochondrial isoform 1							102.0	101.0	101.0					2																	86374830		1976	4153	6129	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86374830C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1528G>A	2.37:g.86374830C>T	ENSP00000387262:p.Glu510Lys					IMMT_uc002sqy.3_Missense_Mutation_p.E251K|IMMT_uc002srb.3_Missense_Mutation_p.E499K|IMMT_uc002sra.3_Missense_Mutation_p.E509K|IMMT_uc010ytd.1_Missense_Mutation_p.E498K|IMMT_uc010yte.1_Missense_Mutation_p.E463K|IMMT_uc002src.1_Missense_Mutation_p.E246K	p.E510K	NM_006839	NP_006830	Q16891	IMMT_HUMAN			13	1916	-			510			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1528G>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371988	0.82573	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	6.17	6.17	0.99709	.	0.093551	0.64402	D	0.000001	T	0.44561	0.1299	L	0.43923	1.385	0.58432	D	0.999996	P;P;P;P;P;P	0.51791	0.948;0.763;0.763;0.721;0.846;0.763	P;P;P;P;P;P	0.60286	0.872;0.685;0.685;0.557;0.557;0.685	T	0.02774	-1.1112	10	0.30078	T	0.28	-15.9967	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	463;498;412;499;478;510	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;IMMT_HUMAN	K	411;499;510;509;463;499;478;411	ENSP00000254636:E411K;ENSP00000396899:E499K;ENSP00000387262:E510K;ENSP00000407788:E509K;ENSP00000387227:E463K	ENSP00000254636:E411K	E	-	1	0	IMMT	86228341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.457000	0.45005	2.941000	0.99782	0.655000	0.94253	GAG		0.483	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2		NM_006839		21	29	0	0	0	1	0	21	29		
REEP1	65055	broad.mit.edu	37	2	86459890	86459890	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:86459890G>A	ENST00000165698.5	-	6	596	c.453C>T	c.(451-453)ttC>ttT	p.F151F	REEP1_ENST00000535845.1_Silent_p.F124F|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000540790.1_Silent_p.F130F|REEP1_ENST00000538924.1_Silent_p.F158F|REEP1_ENST00000541910.1_Missense_Mutation_p.S73L	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	151					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTGCATGCTGAAGCTCCGCA	0.667																																						uc002srh.3		NaN																	0					0						c.(451-453)TTC>TTT		receptor accessory protein 1 isoform 2							45.0	40.0	42.0					2																	86459890		2203	4300	6503	SO:0001819	synonymous_variant	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459890G>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.453C>T	2.37:g.86459890G>A						REEP1_uc010ytg.1_Silent_p.F130F|REEP1_uc010yth.1_Silent_p.F124F|REEP1_uc010yti.1_Missense_Mutation_p.S73L	p.F151F	NM_022912	NP_075063	Q9H902	REEP1_HUMAN			6	597	-			151					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Silent	SNP	ENST00000165698.5	37	c.453C>T	CCDS1989.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400328	0.25291	.	.	ENSG00000068615	ENST00000541910;ENST00000437769	D;D	0.92446	-3.04;-2.98	5.66	5.66	0.87406	.	.	.	.	.	D	0.92958	0.7759	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.88136	0.2841	8	0.02654	T	1	.	17.0395	0.86484	0.0:0.0:1.0:0.0	.	73	B7Z4D7	.	L	73	ENSP00000442681:S73L;ENSP00000401140:S73L	ENSP00000401140:S73L	S	-	2	0	REEP1	86313401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.897000	0.56273	2.832000	0.97577	0.655000	0.94253	TCA		0.667	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2		NM_022912		13	18	0	0	0	1	0	13	18		
EIF2AK3	9451	broad.mit.edu	37	2	88890382	88890382	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:88890382A>G	ENST00000303236.3	-	5	1257	c.956T>C	c.(955-957)gTt>gCt	p.V319A	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V168A	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	319					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GAATGCCATAACTTTCCAGTC	0.428																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NaN																	0				ovary(3)	3						c.(955-957)GTT>GCT		eukaryotic translation initiation factor 2-alpha							179.0	167.0	171.0					2																	88890382		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88890382A>G	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.956T>C	2.37:g.88890382A>G	ENSP00000307235:p.Val319Ala						p.V319A	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			5	1158	-			319			Lumenal (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.956T>C	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660739	0.88154	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.35236	1.32;1.32;1.51	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.056412	0.64402	D	0.000001	T	0.48241	0.1489	M	0.76328	2.33	0.51012	D	0.999907	D	0.53745	0.962	P	0.47015	0.534	T	0.55623	-0.8112	10	0.87932	D	0	-24.9265	16.2774	0.82651	1.0:0.0:0.0:0.0	.	319	Q9NZJ5	E2AK3_HUMAN	A	168;319;168;198	ENSP00000408325:V168A;ENSP00000307235:V319A;ENSP00000412076:V198A	ENSP00000307235:V319A	V	-	2	0	EIF2AK3	88671497	1.000000	0.71417	0.991000	0.47740	0.855000	0.48748	8.447000	0.90332	2.247000	0.74100	0.482000	0.46254	GTT		0.428	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2		NM_004836		33	67	0	0	0	1	0	33	67		
SNRNP200	23020	broad.mit.edu	37	2	96943981	96943981	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:96943981C>G	ENST00000323853.5	-	39	5681	c.5604G>C	c.(5602-5604)ctG>ctC	p.L1868L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1868	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCACCTGCCTCAGGAGATTGT	0.552																																						uc002svu.2		NaN																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(5602-5604)CTG>CTC		activating signal cointegrator 1 complex subunit							171.0	144.0	153.0					2																	96943981		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96943981C>G	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5604G>C	2.37:g.96943981C>G						SNRNP200_uc002svt.2_Silent_p.L478L|SNRNP200_uc010yuj.1_RNA	p.L1868L	NM_014014	NP_054733	O75643	U520_HUMAN			39	5690	-			1868			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.5604G>C	CCDS2020.1																																																																																				0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2		NM_014014		29	57	0	0	0	1	0	29	57		
ANKRD36	375248	broad.mit.edu	37	2	97779539	97779539	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:97779539C>T	ENST00000461153.2	+	1	307	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ANKRD36_ENST00000420699.2_Silent_p.F21F			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGATGGCTTCGCATTTCCCC	0.512																																						uc010yva.1		NaN																	0					0						c.(61-63)TTC>TTT		ankyrin repeat domain 36							105.0	105.0	105.0					2																	97779539		1993	4175	6168	SO:0001819	synonymous_variant	375248							g.chr2:97779539C>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.63C>T	2.37:g.97779539C>T						ANKRD36_uc002sxn.2_Silent_p.F21F|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Silent_p.F21F|ANKRD36_uc002sxp.3_RNA	p.F21F	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			1	307	+			21					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.63C>T	CCDS54379.1																																																																																				0.512	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				21	61	0	0	0	1	0	21	61		
MRPL30	51263	broad.mit.edu	37	2	99804704	99804704	+	Missense_Mutation	SNP	C	C	T	rs201273982		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:99804704C>T	ENST00000338148.3	+	3	314	c.116C>T	c.(115-117)tCa>tTa	p.S39L	MRPL30_ENST00000410042.1_Missense_Mutation_p.S39L|MRPL30_ENST00000409145.1_Missense_Mutation_p.S39L|MRPL30_ENST00000465432.1_Intron|C2orf15_ENST00000512183.2_Missense_Mutation_p.S39L	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	39						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTCACCAGATCAAGAATTCCA	0.279																																						uc002szu.2		NaN																	0				ovary(1)	1						c.(115-117)TCA>TTA		RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;							54.0	55.0	55.0					2																	99804704		2203	4300	6503	SO:0001583	missense	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99804704C>T	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.116C>T	2.37:g.99804704C>T	ENSP00000338057:p.Ser39Leu					MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.S39L|MRPL30_uc002szt.1_Intron|MRPL30_uc002szv.2_Missense_Mutation_p.S39L	p.S39L	NM_145213	NP_660214	Q8TCC3	RM30_HUMAN			3	278	+			39					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	c.116C>T	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321300	0.81580	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409145;ENST00000409841	T;T;T	0.47177	0.85;0.85;0.85	5.31	5.31	0.75309	.	0.374819	0.24940	N	0.034387	T	0.61135	0.2323	M	0.70275	2.135	0.42202	D	0.991776	D;D	0.65815	0.995;0.975	P;P	0.57960	0.738;0.83	T	0.63906	-0.6531	10	0.62326	D	0.03	-20.3571	11.4026	0.49878	0.1801:0.8199:0.0:0.0	.	39;39	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	L	39;52;39;39;39;39	ENSP00000420959:S39L;ENSP00000338057:S39L;ENSP00000386752:S39L	ENSP00000312464:S52L	S	+	2	0	C2orf15;MRPL30	99171136	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	5.912000	0.69948	2.759000	0.94783	0.643000	0.83706	TCA		0.279	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2				4	8	0	0	0	1	0	4	8		
REV1	51455	broad.mit.edu	37	2	100019151	100019151	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:100019151T>C	ENST00000258428.3	-	21	3725	c.3497A>G	c.(3496-3498)aAt>aGt	p.N1166S	REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Missense_Mutation_p.N1165S|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1166	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCACATCATTGAATTCAAC	0.488								Direct reversal of damage																														uc002tad.2		NaN																	0				ovary(2)	2						c.(3496-3498)AAT>AGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							99.0	94.0	96.0					2																	100019151		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100019151T>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3497A>G	2.37:g.100019151T>C	ENSP00000258428:p.Asn1166Ser					REV1_uc002tac.2_Missense_Mutation_p.N1165S	p.N1166S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			21	3709	-			1166			Protein interaction domain; mediates interaction with DNA polymerase zeta.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.3497A>G	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	T	4.671	0.124713	0.08931	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.27557	1.66;1.66	5.95	-3.41	0.04839	.	0.226336	0.51477	N	0.000083	T	0.10294	0.0252	N	0.04636	-0.2	0.24148	N	0.995707	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.34502	-0.9826	10	0.02654	T	1	.	13.535	0.61643	0.0:0.1881:0.0:0.8119	.	1166;1165	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	S	1165;1166	ENSP00000377091:N1165S;ENSP00000258428:N1166S	ENSP00000258428:N1166S	N	-	2	0	REV1	99385583	0.991000	0.36638	0.506000	0.27664	0.961000	0.63080	0.340000	0.19892	-0.514000	0.06488	-0.250000	0.11733	AAT		0.488	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2		NM_016316		28	47	0	0	0	1	0	28	47		
SLC9A4	389015	broad.mit.edu	37	2	103142766	103142766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:103142766C>T	ENST00000295269.4	+	11	2456	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	667					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGGGAATCCTCAGTCTGCAGG	0.507																																						uc002tbz.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1999-2001)CAG>TAG		solute carrier family 9 (sodium/hydrogen							123.0	115.0	118.0					2																	103142766		2203	4300	6503	SO:0001587	stop_gained	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103142766C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1999C>T	2.37:g.103142766C>T	ENSP00000295269:p.Gln667*						p.Q667*	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			11	2456	+			667			Cytoplasmic (Potential).		Q69YK0	Nonsense_Mutation	SNP	ENST00000295269.4	37	c.1999C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	40	8.419609	0.98803	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.8	5.8	0.92144	.	2.395610	0.01359	N	0.012173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	16.9798	0.86324	0.0:1.0:0.0:0.0	.	.	.	.	X	667	.	ENSP00000295269:Q667X	Q	+	1	0	SLC9A4	102509198	0.111000	0.22076	0.015000	0.15790	0.013000	0.08279	2.777000	0.47717	2.735000	0.93741	0.655000	0.94253	CAG		0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1		NM_001011552.3		24	44	0	0	0	1	0	24	44		
RANBP2	5903	broad.mit.edu	37	2	109369565	109369565	+	Missense_Mutation	SNP	C	C	T	rs570157899		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:109369565C>T	ENST00000283195.6	+	13	1993	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	623					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAACAGTATTCCTGAACCTAT	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		17052	0.001		0.0	False		,,,				2504	0.0					uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(1867-1869)CCT>TCT		RAN binding protein 2							15.0	16.0	16.0					2																	109369565		1680	3683	5363	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109369565C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1867C>T	2.37:g.109369565C>T	ENSP00000283195:p.Pro623Ser						p.P623S	NM_006267	NP_006258	P49792	RBP2_HUMAN			13	1993	+			623					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1867C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867665	0.51588	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.26518	1.73	4.33	4.33	0.51752	.	.	.	.	.	T	0.27765	0.0683	M	0.67953	2.075	0.31874	N	0.619294	B	0.33857	0.429	B	0.32090	0.14	T	0.37454	-0.9705	9	0.56958	D	0.05	-12.6969	10.6991	0.45915	0.0:0.859:0.0:0.141	.	623	P49792	RBP2_HUMAN	S	623	ENSP00000283195:P623S	ENSP00000283195:P623S	P	+	1	0	RANBP2	108735997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.740000	0.47418	2.388000	0.81334	0.650000	0.86243	CCT		0.308	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		32	74	0	0	0	1	0	32	74		
DPP10	57628	broad.mit.edu	37	2	116594297	116594297	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:116594297A>G	ENST00000410059.1	+	24	2637	c.2157A>G	c.(2155-2157)atA>atG	p.I719M	DPP10_ENST00000310323.8_Missense_Mutation_p.I712M|DPP10_ENST00000393147.2_Missense_Mutation_p.I723M|DPP10_ENST00000409163.1_Missense_Mutation_p.I669M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	719						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						AAGAAAATATATTAATAATTC	0.333																																						uc002tla.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(2155-2157)ATA>ATG		dipeptidyl peptidase 10 isoform long							83.0	101.0	95.0					2																	116594297		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116594297A>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.2157A>G	2.37:g.116594297A>G	ENSP00000386565:p.Ile719Met					DPP10_uc002tlb.1_Missense_Mutation_p.I669M|DPP10_uc002tlc.1_Missense_Mutation_p.I715M|DPP10_uc002tle.2_Missense_Mutation_p.I723M|DPP10_uc002tlf.1_Missense_Mutation_p.I712M	p.I719M	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			24	2614	+			719			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2157A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240344	0.39598	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.15	5.15	0.70609	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.342487	0.29396	N	0.012277	T	0.14399	0.0348	N	0.05031	-0.125	0.25302	N	0.989278	B;B;B;B	0.31705	0.159;0.175;0.336;0.085	B;B;B;B	0.32583	0.091;0.121;0.148;0.148	T	0.08207	-1.0733	10	0.87932	D	0	-11.5088	4.9022	0.13781	0.7132:0.191:0.0958:0.0	.	712;723;715;719	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	719;669;723;712	ENSP00000386565:I719M;ENSP00000387038:I669M;ENSP00000376855:I723M;ENSP00000309066:I712M	ENSP00000309066:I712M	I	+	3	3	DPP10	116310767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.762000	0.55250	2.155000	0.67459	0.459000	0.35465	ATA		0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4		NM_020868		44	62	0	0	0	1	0	44	62		
TMEM177	80775	broad.mit.edu	37	2	120438762	120438762	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:120438762G>A	ENST00000424086.1	+	2	806	c.333G>A	c.(331-333)ttG>ttA	p.L111L	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.L111L|TMEM177_ENST00000401466.1_Silent_p.L111L	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	111						integral component of membrane (GO:0016021)		p.L111F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCAGTTTCTTGGGAGACCTAG	0.587																																						uc010flg.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)TTG>TTA		transmembrane protein 177							172.0	186.0	181.0					2																	120438762		2203	4300	6503	SO:0001819	synonymous_variant	80775					integral to membrane		g.chr2:120438762G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.333G>A	2.37:g.120438762G>A						TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.L111L|TMEM177_uc002tmd.2_Silent_p.L111L|TMEM177_uc010flh.2_Intron	p.L111L	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN			2	806	+	Colorectal(110;0.196)		111					Q9BT20	Silent	SNP	ENST00000424086.1	37	c.333G>A	CCDS2128.1																																																																																				0.587	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1		NM_030577		86	167	0	0	0	1	0	86	167		
PTPN4	5775	broad.mit.edu	37	2	120725491	120725491	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:120725491T>C	ENST00000263708.2	+	26	3408	c.2637T>C	c.(2635-2637)taT>taC	p.Y879Y	PTPN4_ENST00000544261.1_Silent_p.Y512Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	879	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGCCAGTTTATCCACTAGATA	0.373																																						uc002tmf.1		NaN																	0				ovary(2)	2						c.(2635-2637)TAT>TAC		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						155.0	155.0	155.0					2																	120725491		2203	4300	6503	SO:0001819	synonymous_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120725491T>C		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2637T>C	2.37:g.120725491T>C						PTPN4_uc010flj.1_Silent_p.Y592Y|PTPN4_uc010yyr.1_Silent_p.Y512Y	p.Y879Y	NM_002830	NP_002821	P29074	PTN4_HUMAN			26	3408	+			879			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Silent	SNP	ENST00000263708.2	37	c.2637T>C	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	8.868	0.948687	0.18356	.	.	ENSG00000088179	ENST00000441089	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60337	-0.7283	4	.	.	.	.	10.3179	0.43747	0.0:0.0773:0.0:0.9227	.	.	.	.	P	163	.	.	S	+	1	0	PTPN4	120441961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.766000	0.47629	1.965000	0.57142	0.477000	0.44152	TCC		0.373	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2				32	78	0	0	0	1	0	32	78		
ERCC3	2071	broad.mit.edu	37	2	128046431	128046431	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:128046431C>T	ENST00000285398.2	-	7	926	c.832G>A	c.(832-834)Gag>Aag	p.E278K	ERCC3_ENST00000493187.2_Missense_Mutation_p.E214K	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	278					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGAGTTCCTCAATCATTTCC	0.413			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NaN	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(832-834)GAG>AAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							118.0	122.0	121.0					2																	128046431		2203	4300	6503	SO:0001583	missense	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046431C>T	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.832G>A	2.37:g.128046431C>T	ENSP00000285398:p.Glu278Lys					ERCC3_uc002toe.1_Missense_Mutation_p.E33K|ERCC3_uc002tof.1_Missense_Mutation_p.E214K|ERCC3_uc002tog.1_Missense_Mutation_p.E214K|ERCC3_uc010flx.1_Missense_Mutation_p.E33K	p.E278K	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	927	-	Colorectal(110;0.1)		278					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.832G>A	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234778	0.95207	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.36340	1.26;1.26	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	M	0.73430	2.235	0.80722	D	1	P	0.51791	0.948	P	0.51016	0.656	T	0.59936	-0.7360	10	0.87932	D	0	-33.9399	18.4344	0.90640	0.0:1.0:0.0:0.0	.	278	P19447	ERCC3_HUMAN	K	278;214	ENSP00000285398:E278K;ENSP00000444796:E214K	ENSP00000285398:E278K	E	-	1	0	ERCC3	127762901	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.590000	0.82653	2.598000	0.87819	0.655000	0.94253	GAG		0.413	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1		NM_000122		70	117	0	0	0	1	0	70	117		
BAZ2B	29994	broad.mit.edu	37	2	160206422	160206422	+	Missense_Mutation	SNP	C	C	T	rs534478288		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:160206422C>T	ENST00000392783.2	-	28	5155	c.4660G>A	c.(4660-4662)Gaa>Aaa	p.E1554K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1518K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1454K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1520K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTATTCTTTTCAGTCAGCGTT	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20816	0.0		0.0	False		,,,				2504	0.0					uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(4660-4662)GAA>AAA		bromodomain adjacent to zinc finger domain, 2B							170.0	168.0	168.0					2																	160206422		2054	4209	6263	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206422C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4660G>A	2.37:g.160206422C>T	ENSP00000376534:p.Glu1554Lys					BAZ2B_uc002uap.2_Missense_Mutation_p.E1518K	p.E1554K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			28	5012	-			1554					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4660G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052115	0.55218	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.66099	-0.19;-0.14;-0.19;-0.17	6.17	6.17	0.99709	.	0.000000	0.37623	U	0.002013	T	0.76666	0.4019	M	0.68952	2.095	0.58432	D	0.999998	D;D	0.69078	0.971;0.997	P;P	0.58331	0.654;0.837	T	0.76013	-0.3114	10	0.62326	D	0.03	-21.4129	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1518;1554	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1518;1554;1520;1454	ENSP00000376533:E1518K;ENSP00000376534:E1554K;ENSP00000348087:E1520K;ENSP00000339670:E1454K	ENSP00000339670:E1454K	E	-	1	0	BAZ2B	159914668	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	GAA		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				61	115	0	0	0	1	0	61	115		
TBR1	10716	broad.mit.edu	37	2	162273101	162273101	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:162273101G>A	ENST00000389554.3	+	1	497	c.180G>A	c.(178-180)acG>acA	p.T60T	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	60					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GGGGGATGACGAATCAGTCAG	0.498																																						uc002ubw.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(178-180)ACG>ACA		T-box, brain, 1							73.0	79.0	77.0					2																	162273101		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273101G>A	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.180G>A	2.37:g.162273101G>A						TBR1_uc010foy.2_5'Flank	p.T60T	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	482	+			60					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.180G>A	CCDS33310.1																																																																																				0.498	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1		NM_006593		31	60	0	0	0	1	0	31	60		
COBLL1	22837	broad.mit.edu	37	2	165551902	165551902	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:165551902G>A	ENST00000392717.2	-	13	2232	c.2228C>T	c.(2227-2229)tCa>tTa	p.S743L	COBLL1_ENST00000342193.4_Missense_Mutation_p.S705L|COBLL1_ENST00000375458.2_Missense_Mutation_p.S667L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S705L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S772L			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	743						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CGGATCTTCTGAATGTATAAT	0.373																																						uc010zcw.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(2314-2316)TCA>TTA		COBL-like 1							132.0	129.0	130.0					2																	165551902		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551902G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2228C>T	2.37:g.165551902G>A	ENSP00000376478:p.Ser743Leu					COBLL1_uc002ucp.2_Missense_Mutation_p.S705L|COBLL1_uc002ucq.2_Missense_Mutation_p.S667L|COBLL1_uc010zcx.1_Missense_Mutation_p.S713L|COBLL1_uc002ucn.2_Missense_Mutation_p.S133L|COBLL1_uc002uco.2_Missense_Mutation_p.S436L	p.S772L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			15	2439	-			743					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2315C>T		.	.	.	.	.	.	.	.	.	.	G	6.196	0.404370	0.11754	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	3.8	2.91	0.33838	.	0.957908	0.08592	N	0.922947	T	0.30947	0.0781	L	0.47716	1.5	0.19775	N	0.999958	B;B;B	0.26081	0.087;0.087;0.141	B;B;B	0.23419	0.02;0.02;0.046	T	0.28522	-1.0041	9	0.22109	T	0.4	-0.881	2.2257	0.03983	0.1122:0.1767:0.4982:0.2128	.	743;772;705	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	L	667;705;705;743;772	.	ENSP00000194871:S772L	S	-	2	0	COBLL1	165260148	0.907000	0.30839	0.227000	0.23927	0.412000	0.31113	1.568000	0.36418	1.187000	0.43000	0.557000	0.71058	TCA		0.373	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014900		58	104	0	0	0	1	0	58	104		
TTN	7273	broad.mit.edu	37	2	179398127	179398127	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179398127G>A	ENST00000591111.1	-	308	98516	c.98292C>T	c.(98290-98292)ctC>ctT	p.L32764L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Silent_p.L34405L|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Silent_p.L25465L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.L31837L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.L25340L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L25532L|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32764	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTAGGCCCGAGGGACAGTG	0.473																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(95509-95511)CTC>CTT		titin isoform N2-A							69.0	69.0	69.0					2																	179398127		1972	4153	6125	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398127G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98292C>T	2.37:g.179398127G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L25532L|TTN_uc010zfi.1_Silent_p.L25465L|TTN_uc010zfj.1_Silent_p.L25340L	p.L31837L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	95735	-			32764					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.95511C>T																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		27	51	0	0	0	1	0	27	51		
TTN	7273	broad.mit.edu	37	2	179422195	179422195	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179422195C>G	ENST00000591111.1	-	279	83095	c.82871G>C	c.(82870-82872)gGa>gCa	p.G27624A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G29265A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20325A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26697A|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20200A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20392A|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27624	Fibronectin type-III 101. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTGCCTCCATTTGACAC	0.458																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(80089-80091)GGA>GCA		titin isoform N2-A							129.0	121.0	124.0					2																	179422195		2031	4184	6215	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422195C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82871G>C	2.37:g.179422195C>G	ENSP00000465570:p.Gly27624Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G20392A|TTN_uc010zfi.1_Missense_Mutation_p.G20325A|TTN_uc010zfj.1_Missense_Mutation_p.G20200A	p.G26697A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		278	80314	-			27624					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80090G>C		.	.	.	.	.	.	.	.	.	.	C	18.56	3.650359	0.67472	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81612	0.4859	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.86114	0.1564	9	0.87932	D	0	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	20200;20325;20392;27624	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	26697;20200;20392;20325;20197	ENSP00000343764:G26697A;ENSP00000434586:G20200A;ENSP00000340554:G20392A;ENSP00000352154:G20325A	ENSP00000340554:G20392A	G	-	2	0	TTN	179130441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.776000	0.95493	0.655000	0.94253	GGA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		24	66	0	0	0	1	0	24	66		
TTN	7273	broad.mit.edu	37	2	179429435	179429435	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179429435C>G	ENST00000591111.1	-	276	76725	c.76501G>C	c.(76501-76503)Gag>Cag	p.E25501Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E27142Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18202Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24574Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18077Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18269Q|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25501	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCATACTCAAGGCCCTCA	0.418																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(73720-73722)GAG>CAG		titin isoform N2-A							44.0	45.0	44.0					2																	179429435		1885	4112	5997	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429435C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76501G>C	2.37:g.179429435C>G	ENSP00000465570:p.Glu25501Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E18269Q|TTN_uc010zfi.1_Missense_Mutation_p.E18202Q|TTN_uc010zfj.1_Missense_Mutation_p.E18077Q	p.E24574Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	73944	-			25501					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.73720G>C		.	.	.	.	.	.	.	.	.	.	C	11.98	1.801390	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.02	5.13	0.70059	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64724	0.2624	L	0.58101	1.795	0.36943	D	0.892496	D;D;D;D	0.58970	0.984;0.984;0.984;0.97	P;P;P;P	0.59288	0.855;0.855;0.855;0.8	T	0.73566	-0.3942	9	0.87932	D	0	.	13.4946	0.61416	0.0:0.8693:0.0:0.1307	.	18077;18202;18269;25501	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	24574;18077;18269;18202;18075	ENSP00000343764:E24574Q;ENSP00000434586:E18077Q;ENSP00000340554:E18269Q;ENSP00000352154:E18202Q	ENSP00000340554:E18269Q	E	-	1	0	TTN	179137681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.105000	0.57797	1.526000	0.49068	0.650000	0.86243	GAG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		19	30	0	0	0	1	0	19	30		
ITGAV	3685	broad.mit.edu	37	2	187466860	187466860	+	Missense_Mutation	SNP	A	A	T	rs201231113		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:187466860A>T	ENST00000261023.3	+	2	572	c.298A>T	c.(298-300)Att>Ttt	p.I100F	ITGAV_ENST00000374907.3_Missense_Mutation_p.I100F|ITGAV_ENST00000433736.2_Missense_Mutation_p.I54F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	100					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GTGCCAGCCAATTGAATTTGA	0.423																																					Melanoma(58;108 1995 6081)	uc002upq.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(298-300)ATT>TTT		integrin alpha-V isoform 1 precursor							50.0	52.0	51.0					2																	187466860		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187466860A>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.298A>T	2.37:g.187466860A>T	ENSP00000261023:p.Ile100Phe					ITGAV_uc010frs.2_Missense_Mutation_p.I100F|ITGAV_uc010zfv.1_Missense_Mutation_p.I54F	p.I100F	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	2	574	+			100			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.298A>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750378	0.69533	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	D;D;D	0.90444	-2.67;-2.67;-2.67	5.15	4.02	0.46733	.	0.358196	0.30076	N	0.010477	D	0.93252	0.7850	M	0.80332	2.49	0.53688	D	0.999971	P;P;P	0.52577	0.664;0.954;0.664	B;P;B	0.60012	0.203;0.867;0.203	D	0.93039	0.6455	10	0.87932	D	0	.	6.4886	0.22103	0.8515:0.0:0.1485:0.0	.	54;100;100	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	F	100;100;100;54	ENSP00000261023:I100F;ENSP00000364042:I100F;ENSP00000404291:I54F	ENSP00000261023:I100F	I	+	1	0	ITGAV	187175105	0.960000	0.32886	0.993000	0.49108	0.975000	0.68041	2.203000	0.42752	1.934000	0.56057	0.533000	0.62120	ATT		0.423	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2		NM_002210		17	29	0	0	0	1	0	17	29		
TMEFF2	23671	broad.mit.edu	37	2	192863864	192863864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:192863864C>T	ENST00000272771.5	-	6	1791	c.607G>A	c.(607-609)Gat>Aat	p.D203N	TMEFF2_ENST00000392314.1_Missense_Mutation_p.D203N|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	203	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATGCATTATCATAAGATTTC	0.363																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NaN																	0				lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(607-609)GAT>AAT		transmembrane protein with EGF-like and two							134.0	125.0	128.0					2																	192863864		2203	4299	6502	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192863864C>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.607G>A	2.37:g.192863864C>T	ENSP00000272771:p.Asp203Asn						p.D203N	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		6	1001	-			203			Kazal-like 2.|Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.607G>A	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657516	0.67586	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.04194	3.68;3.68	5.74	5.74	0.90152	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.098188	0.64402	D	0.000002	T	0.06508	0.0167	N	0.20685	0.6	0.80722	D	1	B	0.24317	0.101	B	0.37091	0.241	T	0.51616	-0.8683	10	0.14656	T	0.56	-17.4611	20.2982	0.98569	0.0:1.0:0.0:0.0	.	203	Q9UIK5	TEFF2_HUMAN	N	203	ENSP00000376128:D203N;ENSP00000272771:D203N	ENSP00000272771:D203N	D	-	1	0	TMEFF2	192572109	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.873000	0.98535	0.563000	0.77884	GAT		0.363	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2		NM_016192		29	52	0	0	0	1	0	29	52		
ALS2	57679	broad.mit.edu	37	2	202631985	202631985	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:202631985G>A	ENST00000264276.6	-	3	514	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	ALS2_ENST00000467448.1_Missense_Mutation_p.L48F|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	48					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCACTCCGAGGGCTGCCTGC	0.488																																						uc002uyo.2		NaN																	0				skin(5)|lung(1)|breast(1)	7						c.(142-144)CTC>TTC		alsin isoform 1							122.0	119.0	120.0					2																	202631985		1936	4140	6076	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202631985G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.142C>T	2.37:g.202631985G>A	ENSP00000264276:p.Leu48Phe					ALS2_uc002uyp.3_Missense_Mutation_p.L48F|ALS2_uc002uyq.2_Missense_Mutation_p.L48F|ALS2_uc002uyr.2_Missense_Mutation_p.L48F	p.L48F	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			3	498	-			48					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.142C>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482118	0.63849	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	6.07	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.89698	0.6790	M	0.79805	2.47	0.80722	D	1	P;D;D;D	0.89917	0.936;1.0;1.0;1.0	P;D;D;D	0.91635	0.84;0.999;0.999;0.998	D	0.90070	0.4162	10	0.62326	D	0.03	.	15.6843	0.77396	0.0661:0.0:0.9339:0.0	.	48;48;48;48	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	F	48	ENSP00000264276:L48F;ENSP00000429223:L48F;ENSP00000386384:L48F;ENSP00000386948:L48F	ENSP00000264276:L48F	L	-	1	0	ALS2	202340230	1.000000	0.71417	0.999000	0.59377	0.212000	0.24457	5.816000	0.69222	2.885000	0.99019	0.655000	0.94253	CTC		0.488	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3		NM_020919		14	31	0	0	0	1	0	14	31		
MAP2	4133	broad.mit.edu	37	2	210558419	210558419	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:210558419G>C	ENST00000360351.4	+	7	2031	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	MAP2_ENST00000447185.1_Missense_Mutation_p.D505H|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	509					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.D509N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCAGTTACAGATTCAGCCAT	0.428																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1525-1527)GAT>CAT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						76.0	76.0	76.0					2																	210558419		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558419G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1525G>C	2.37:g.210558419G>C	ENSP00000353508:p.Asp509His					MAP2_uc002vdc.1_Missense_Mutation_p.D509H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D505H	p.D509H	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1773	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	509					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1525G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566071	0.45694	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.27720	1.65;1.65	6.16	4.16	0.48862	MAP2/Tau projection (1);	0.297790	0.28996	N	0.013467	T	0.37652	0.1011	L	0.44542	1.39	0.09310	N	1	D;D	0.55172	0.963;0.97	P;P	0.57548	0.73;0.823	T	0.13335	-1.0513	10	0.66056	D	0.02	-11.2891	7.3818	0.26859	0.151:0.0:0.7147:0.1343	.	505;509	P11137-3;P11137	.;MAP2_HUMAN	H	509;505	ENSP00000353508:D509H;ENSP00000392164:D505H	ENSP00000353508:D509H	D	+	1	0	MAP2	210266664	0.732000	0.28121	0.594000	0.28785	0.949000	0.60115	2.212000	0.42835	1.487000	0.48415	0.650000	0.86243	GAT		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		NM_001039538		25	26	0	0	0	1	0	25	26		
SIRPB2	284759	broad.mit.edu	37	20	1458977	1458977	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:1458977C>T	ENST00000359801.3	-	3	763	c.727G>A	c.(727-729)Gta>Ata	p.V243I	SIRPB2_ENST00000444444.2_Missense_Mutation_p.V145I|SIRPB2_ENST00000537284.1_Missense_Mutation_p.V105I|SIRPB2_ENST00000608747.1_5'Flank	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	120	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAACTTTACACAGTAATAG	0.512																																						uc002wfg.2		NaN																	0					0						c.(727-729)GTA>ATA		signal-regulatory protein beta 2 isoform 1							121.0	107.0	111.0					20																	1458977		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1458977C>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.727G>A	20.37:g.1458977C>T	ENSP00000352849:p.Val243Ile					SIRPB2_uc002wfh.3_Missense_Mutation_p.V145I|SIRPB2_uc010zpr.1_Missense_Mutation_p.V105I	p.V243I	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			3	955	-			243			Ig-like V-type 2.|Extracellular (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.727G>A	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527253	0.64860	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000537284;ENST00000381630;ENST00000381628	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.4	3.46	0.39613	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.966964	0.08488	N	0.938437	D	0.82761	0.5107	M	0.87682	2.9	0.25990	N	0.98226	D;P;D	0.69078	0.99;0.81;0.997	D;B;D	0.80764	0.986;0.394;0.994	T	0.66412	-0.5930	10	0.39692	T	0.17	-13.849	9.8875	0.41270	0.0:0.9029:0.0:0.0971	.	105;145;243	F5H204;E9PCW6;Q5JXA9	.;.;SIRB2_HUMAN	I	243;145;105;145;145	ENSP00000352849:V243I;ENSP00000402438:V145I;ENSP00000445632:V105I;ENSP00000371043:V145I	ENSP00000352849:V243I	V	-	1	0	SIRPB2	1406977	0.999000	0.42202	0.940000	0.37924	0.926000	0.56050	3.599000	0.54045	1.215000	0.43411	-0.291000	0.09656	GTA		0.512	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1		NM_178459		24	48	0	0	0	1	0	24	48		
STK35	140901	broad.mit.edu	37	20	2083843	2083843	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:2083843G>A	ENST00000381482.3	+	2	995	c.724G>A	c.(724-726)Gag>Aag	p.E242K	STK35_ENST00000246032.3_Missense_Mutation_p.E109K|STK35_ENST00000400064.3_Missense_Mutation_p.E70K			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	242	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						CGAGAACGTGGAGCTGGCGCT	0.682																																						uc010gak.2		NaN																	0				ovary(1)	1						c.(724-726)GAG>AAG		serine/threonine kinase 35							17.0	18.0	18.0					20																	2083843		2199	4299	6498	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2083843G>A	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.724G>A	20.37:g.2083843G>A	ENSP00000370891:p.Glu242Lys					STK35_uc010zpu.1_Missense_Mutation_p.E109K|STK35_uc002wfw.3_Missense_Mutation_p.E109K	p.E242K	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			2	724	+			242			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.724G>A	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	35	5.588067	0.96590	.	.	ENSG00000125834	ENST00000381482;ENST00000246032;ENST00000400064	D;D;T	0.93189	-3.18;-3.18;-0.06	4.01	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	N	0.17800	0.525	0.58432	D	0.99999	D;P	0.76494	0.999;0.877	D;P	0.81914	0.995;0.809	D	0.93883	0.7173	10	0.72032	D	0.01	-16.5537	14.448	0.67364	0.0:0.0:1.0:0.0	.	70;242	B4DYV9;Q8TDR2	.;STK35_HUMAN	K	242;109;70	ENSP00000370891:E242K;ENSP00000246032:E109K;ENSP00000382937:E70K	ENSP00000246032:E109K	E	+	1	0	STK35	2031843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.530000	0.85305	0.655000	0.94253	GAG		0.682	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3		NM_080836		5	11	0	0	0	1	0	5	11		
HSPA12B	116835	broad.mit.edu	37	20	3732653	3732653	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:3732653T>A	ENST00000254963.2	+	13	2046	c.1901T>A	c.(1900-1902)cTt>cAt	p.L634H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.L468H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	634							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AGCCTCGAGCTTGAGCCCGCC	0.697																																						uc002wjd.2		NaN																	0					0						c.(1900-1902)CTT>CAT		heat shock 70kD protein 12B							4.0	4.0	4.0					20																	3732653		1953	3787	5740	SO:0001583	missense	116835						ATP binding	g.chr20:3732653T>A	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1901T>A	20.37:g.3732653T>A	ENSP00000254963:p.Leu634His					HSPA12B_uc010zqi.1_Missense_Mutation_p.L633H|HSPA12B_uc002wje.2_Missense_Mutation_p.L547H|HSPA12B_uc010zqj.1_Missense_Mutation_p.L468H	p.L634H	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			13	2004	+			634					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.1901T>A	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365361	0.82463	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.53640	1.2;0.61;0.61	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.73217	2.22	0.50313	D	0.999862	D;D	0.89917	0.999;1.0	D;D	0.76071	0.967;0.987	T	0.70806	-0.4772	10	0.87932	D	0	-12.8997	13.3064	0.60355	0.0:0.0:0.0:1.0	.	633;634	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	634;468;548	ENSP00000254963:L634H;ENSP00000441506:L468H;ENSP00000382608:L548H	ENSP00000254963:L634H	L	+	2	0	HSPA12B	3680653	1.000000	0.71417	0.966000	0.40874	0.490000	0.33462	7.679000	0.84048	2.035000	0.60131	0.379000	0.24179	CTT		0.697	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2		NM_052970		5	7	0	0	0	1	0	5	7		
RASSF2	9770	broad.mit.edu	37	20	4768393	4768393	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:4768393C>T	ENST00000379400.3	-	10	894	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RASSF2_ENST00000379376.2_Silent_p.Q233Q|RASSF2_ENST00000478553.1_Intron	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	233	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CCTTCAGCTTCTGTTTCTCTG	0.542																																					Melanoma(158;1891 3343 50738)	uc002wld.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)	6						c.(697-699)CAG>CAA		Ras association domain family 2							122.0	104.0	110.0					20																	4768393		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4768393C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.699G>A	20.37:g.4768393C>T						RASSF2_uc002wlc.2_Intron|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Silent_p.Q233Q|RASSF2_uc010gbh.2_5'Flank	p.Q233Q	NM_170774	NP_739580	P50749	RASF2_HUMAN			9	753	-			233			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.699G>A	CCDS13083.1																																																																																				0.542	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1		NM_014737		16	21	0	0	0	1	0	16	21		
PLCB1	23236	broad.mit.edu	37	20	8722214	8722214	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:8722214G>C	ENST00000338037.6	+	23	2544	c.2517G>C	c.(2515-2517)aaG>aaC	p.K839N	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.K839N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K839N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	839					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAAGTAAAGAAAGAGGTGA	0.398																																						uc002wnb.2		NaN																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2515-2517)AAG>AAC		phosphoinositide-specific phospholipase C beta 1							113.0	102.0	106.0					20																	8722214		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8722214G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2517G>C	20.37:g.8722214G>C	ENSP00000338185:p.Lys839Asn					PLCB1_uc010zrb.1_Missense_Mutation_p.K738N|PLCB1_uc002wna.2_Missense_Mutation_p.K839N|PLCB1_uc002wnc.1_Missense_Mutation_p.K738N|PLCB1_uc002wnd.1_Missense_Mutation_p.K416N	p.K839N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			23	2520	+			839					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2517G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208829	0.39003	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.19806	2.14;2.14;2.14;2.12	5.6	5.6	0.85130	.	0.159594	0.53938	D	0.000047	T	0.17280	0.0415	N	0.22421	0.69	0.46609	D	0.999129	B;B	0.22851	0.051;0.076	B;B	0.23574	0.016;0.047	T	0.08249	-1.0731	10	0.16896	T	0.51	.	19.6222	0.95663	0.0:0.0:1.0:0.0	.	839;839	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	839;839;839;759;759;185;158	ENSP00000367908:K839N;ENSP00000338185:K839N;ENSP00000367904:K839N;ENSP00000391162:K158N	ENSP00000338185:K839N	K	+	3	2	PLCB1	8670214	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.625000	0.61262	2.648000	0.89879	0.460000	0.39030	AAG		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3				5	20	0	0	0	1	0	5	20		
APMAP	57136	broad.mit.edu	37	20	24973288	24973288	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:24973288G>C	ENST00000217456.2	-	1	327	c.37C>G	c.(37-39)Ctg>Gtg	p.L13V	APMAP_ENST00000447138.1_Missense_Mutation_p.L13V	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	13					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										TGCGGCCGCAGGGGCCGGCGC	0.716																																						uc002wty.2		NaN																	0				ovary(1)	1						c.(37-39)CTG>GTG		chromosome 20 open reading frame 3							10.0	13.0	12.0					20																	24973288		2174	4252	6426	SO:0001583	missense	57136				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity	g.chr20:24973288G>C	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.37C>G	20.37:g.24973288G>C	ENSP00000217456:p.Leu13Val					C20orf3_uc002wtz.2_Missense_Mutation_p.L13V|C20orf3_uc010zsw.1_Missense_Mutation_p.L13V	p.L13V	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN			1	138	-			13			Cytoplasmic (Potential).		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	c.37C>G	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239983	0.22711	.	.	ENSG00000101474	ENST00000217456;ENST00000447138	T;T	0.29655	1.98;1.56	4.56	0.0659	0.14359	.	0.589353	0.16992	N	0.191255	T	0.19604	0.0471	L	0.47716	1.5	0.09310	N	0.99999	B;B	0.15141	0.009;0.012	B;B	0.11329	0.006;0.004	T	0.15407	-1.0438	10	0.33940	T	0.23	-0.5539	1.3378	0.02148	0.1963:0.1709:0.4569:0.1758	.	13;13	Q9HDC9-2;Q9HDC9	.;APMAP_HUMAN	V	13	ENSP00000217456:L13V;ENSP00000415373:L13V	ENSP00000217456:L13V	L	-	1	2	C20orf3	24921288	0.098000	0.21812	0.189000	0.23252	0.899000	0.52679	0.402000	0.20965	0.261000	0.21753	0.467000	0.42956	CTG		0.716	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2		NM_020531		4	1	0	0	0	1	0	4	1		
ACSS1	84532	broad.mit.edu	37	20	25038496	25038496	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:25038496G>A	ENST00000323482.4	-	1	322	c.243C>T	c.(241-243)ctC>ctT	p.L81L	ACSS1_ENST00000376726.3_Silent_p.L81L|ACSS1_ENST00000432802.2_Silent_p.L81L	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	81					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTCCCACACGAGAGTGTCCC	0.657																																						uc002wub.2		NaN																	0				ovary(1)|skin(1)	2						c.(241-243)CTC>CTT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						35.0	40.0	38.0					20																	25038496		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25038496G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.243C>T	20.37:g.25038496G>A						ACSS1_uc002wuc.2_Silent_p.L81L|ACSS1_uc010gdc.2_Silent_p.L81L	p.L81L	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			1	1121	-			81					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.243C>T	CCDS13167.1																																																																																				0.657	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2		NM_032501		18	31	0	0	0	1	0	18	31		
ACTL10	170487	broad.mit.edu	37	20	32255571	32255571	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:32255571G>A	ENST00000330271.4	+	1	1268	c.268G>A	c.(268-270)Gac>Aac	p.D90N	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	90																	CGTGTCCCTGGACTTCGAGGG	0.672																																						uc002wzt.2		NaN																	0				pancreas(1)	1						c.(268-270)GAC>AAC		hypothetical protein LOC170487							37.0	34.0	35.0					20																	32255571		2199	4290	6489	SO:0001583	missense	170487							g.chr20:32255571G>A	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.268G>A	20.37:g.32255571G>A	ENSP00000329647:p.Asp90Asn					NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron	p.D90N	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN			1	1268	+			90					B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	c.268G>A	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743920	0.89663	.	.	ENSG00000182584	ENST00000330271	T	0.10573	2.86	4.9	4.9	0.64082	.	0.000000	0.47093	D	0.000241	T	0.30634	0.0771	L	0.58101	1.795	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.01382	-1.1369	10	0.87932	D	0	-31.3847	16.816	0.85734	0.0:0.0:1.0:0.0	.	90	Q5JWF8	CT134_HUMAN	N	90	ENSP00000329647:D90N	ENSP00000329647:D90N	D	+	1	0	C20orf134	31719232	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	7.746000	0.85057	2.547000	0.85894	0.561000	0.74099	GAC		0.672	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1				14	18	0	0	0	1	0	14	18		
MYH7B	57644	broad.mit.edu	37	20	33574708	33574708	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:33574708G>A	ENST00000262873.7	+	13	1142	c.1050G>A	c.(1048-1050)atG>atA	p.M350I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	308	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTCTGTCTATGAACCCCTATG	0.567																																						uc002xbi.1		NaN																	0				ovary(1)|breast(1)	2						c.(1048-1050)ATG>ATA		myosin, heavy polypeptide 7B, cardiac muscle,							106.0	106.0	106.0					20																	33574708		2109	4232	6341	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33574708G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1050G>A	20.37:g.33574708G>A	ENSP00000262873:p.Met350Ile						p.M350I	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		13	1142	+			308			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1050G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356036	0.41700	.	.	ENSG00000078814	ENST00000262873	T	0.71461	-0.57	3.66	3.66	0.41972	Myosin head, motor domain (2);	0.165280	0.28901	N	0.013769	T	0.59183	0.2175	L	0.28400	0.85	0.30895	N	0.729967	B	0.16802	0.019	B	0.19666	0.026	T	0.64407	-0.6415	10	0.62326	D	0.03	.	13.0286	0.58829	0.0:0.2983:0.7017:0.0	.	308	A7E2Y1	MYH7B_HUMAN	I	350	ENSP00000262873:M350I	ENSP00000262873:M350I	M	+	3	0	MYH7B	33038369	0.826000	0.29277	0.998000	0.56505	0.964000	0.63967	1.395000	0.34520	2.356000	0.79943	0.655000	0.94253	ATG		0.567	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2		NM_020884		26	33	0	0	0	1	0	26	33		
SPAG4	6676	broad.mit.edu	37	20	34204137	34204137	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:34204137C>T	ENST00000374273.3	+	1	324	c.212C>T	c.(211-213)aCa>aTa	p.T71I		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	71					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGAGGAACCACATGGGCAGGA	0.741																																						uc002xdb.1		NaN																	0					0						c.(211-213)ACA>ATA		sperm associated antigen 4							6.0	9.0	8.0					20																	34204137		2097	4185	6282	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34204137C>T	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.212C>T	20.37:g.34204137C>T	ENSP00000363391:p.Thr71Ile					SPAG4_uc010zvi.1_5'UTR	p.T71I	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		1	329	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		71					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.212C>T	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035929	0.54896	.	.	ENSG00000061656	ENST00000374273	T	0.13778	2.56	4.72	2.69	0.31865	.	0.819652	0.10720	N	0.641889	T	0.08935	0.0221	L	0.27053	0.805	0.09310	N	0.999996	B	0.31125	0.309	B	0.26969	0.075	T	0.15694	-1.0428	10	0.87932	D	0	-8.0331	5.6863	0.17805	0.0:0.6932:0.2008:0.1061	.	71	Q9NPE6	SPAG4_HUMAN	I	71	ENSP00000363391:T71I	ENSP00000363391:T71I	T	+	2	0	SPAG4	33667551	0.003000	0.15002	0.982000	0.44146	0.994000	0.84299	0.419000	0.21247	2.460000	0.83146	0.561000	0.74099	ACA		0.741	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1		NM_003116		7	10	0	0	0	1	0	7	10		
CTNNBL1	56259	broad.mit.edu	37	20	36322537	36322537	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:36322537G>A	ENST00000361383.6	+	1	130	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	CTNNBL1_ENST00000405275.2_5'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	5					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGACGTGGGCGAACTTCTGAG	0.662																																					Ovarian(184;582 2038 3273 4106 42608)	uc010zvw.1		NaN																	0				ovary(2)	2						c.(13-15)GAA>AAA		beta catenin-like 1							95.0	84.0	87.0					20																	36322537		2203	4299	6502	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36322537G>A	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.13G>A	20.37:g.36322537G>A	ENSP00000355050:p.Glu5Lys					CTNNBL1_uc010zvv.1_5'UTR	p.E5K	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN			1	104	+		Myeloproliferative disorder(115;0.00878)	5					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.13G>A	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553024	0.86127	.	.	ENSG00000132792	ENST00000361383	T	0.50277	0.75	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.71206	2.165	0.80722	D	1	D	0.60160	0.987	P	0.47603	0.551	T	0.56739	-0.7929	10	0.46703	T	0.11	-7.6706	13.8638	0.63576	0.0:0.0:1.0:0.0	.	5	Q8WYA6	CTBL1_HUMAN	K	5	ENSP00000355050:E5K	ENSP00000355050:E5K	E	+	1	0	CTNNBL1	35755951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.018000	0.57174	2.729000	0.93468	0.467000	0.42956	GAA		0.662	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1		NM_030877		3	6	0	0	0	1	0	3	6		
CHD6	84181	broad.mit.edu	37	20	40049589	40049589	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:40049589G>T	ENST00000373233.3	-	31	5863	c.5686C>A	c.(5686-5688)Ccc>Acc	p.P1896T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1896					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)				TTAGTAGTGGGCTCCGTGAGA	0.512																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5686-5688)CCC>ACC		chromodomain helicase DNA binding protein 6							139.0	138.0	138.0					20																	40049589		2203	4300	6503	SO:0001583	missense	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.chr20:40049589G>T	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.5686C>A	20.37:g.40049589G>T	ENSP00000362330:p.Pro1896Thr						p.P1896T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5864	-		Myeloproliferative disorder(115;0.00425)	1896					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5686C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	7.060	0.566164	0.13560	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.86	4.91	0.64330	.	0.207580	0.34507	N	0.003912	T	0.73860	0.3641	L	0.29908	0.895	0.09310	N	0.999996	B	0.12630	0.006	B	0.08055	0.003	T	0.60321	-0.7286	10	0.52906	T	0.07	-9.4479	5.2469	0.15502	0.0746:0.1226:0.604:0.1988	.	1896	Q8TD26	CHD6_HUMAN	T	1896	ENSP00000362330:P1896T	ENSP00000362330:P1896T	P	-	1	0	CHD6	39483003	0.857000	0.29778	0.808000	0.32385	0.136000	0.21042	2.130000	0.42064	2.776000	0.95493	0.655000	0.94253	CCC		0.512	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				39	42	1	0	3.3946e-10	1	3.50775e-10	39	42		
YWHAB	7529	broad.mit.edu	37	20	43530229	43530229	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:43530229G>A	ENST00000372839.3	+	3	329	c.55G>A	c.(55-57)Gag>Aag	p.E19K	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.E19K	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	19					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGAGCAGGCTGAGCGATATGA	0.458																																						uc002xmt.2		NaN																	0				kidney(2)|ovary(1)|breast(1)	4						c.(55-57)GAG>AAG		tyrosine 3-monooxygenase/tryptophan							70.0	68.0	69.0					20																	43530229		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43530229G>A	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.55G>A	20.37:g.43530229G>A	ENSP00000361930:p.Glu19Lys					YWHAB_uc002xmu.2_Missense_Mutation_p.E19K	p.E19K	NM_003404	NP_003395	P31946	1433B_HUMAN			3	337	+		Myeloproliferative disorder(115;0.0122)	19					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.55G>A	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359519	0.95854	.	.	ENSG00000166913	ENST00000353703;ENST00000372839;ENST00000428262;ENST00000445830	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.65	5.65	0.86999	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.70842	2.15	0.80722	D	1	D	0.55172	0.97	P	0.53360	0.724	T	0.70260	-0.4921	10	0.87932	D	0	-22.1612	20.1057	0.97893	0.0:0.0:1.0:0.0	.	19	P31946	1433B_HUMAN	K	19	ENSP00000300161:E19K;ENSP00000361930:E19K;ENSP00000394729:E19K;ENSP00000394558:E19K	ENSP00000300161:E19K	E	+	1	0	YWHAB	42963643	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	9.869000	0.99810	2.827000	0.97445	0.650000	0.86243	GAG		0.458	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3		NM_003404		23	24	0	0	0	1	0	23	24		
PCIF1	63935	broad.mit.edu	37	20	44573628	44573628	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:44573628G>A	ENST00000372409.3	+	11	1491	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	376					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						AAACGGATCCGAGAGAAGCAC	0.562																																						uc002xqs.2		NaN																	0				skin(1)	1						c.(1126-1128)CGA>CAA		phosphorylated CTD interacting factor 1							92.0	76.0	81.0					20																	44573628		2202	4300	6502	SO:0001583	missense	63935					nucleus		g.chr20:44573628G>A	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1127G>A	20.37:g.44573628G>A	ENSP00000361486:p.Arg376Gln					PCIF1_uc002xqt.2_5'UTR|PCIF1_uc002xqu.2_5'Flank	p.R376Q	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			11	1441	+			376					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1127G>A	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171681	0.78452	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	M	0.65498	2.005	0.80722	D	1	D	0.55605	0.972	B	0.43052	0.406	T	0.62291	-0.6885	9	0.35671	T	0.21	-3.9697	17.3884	0.87423	0.0:0.0:1.0:0.0	.	376	Q9H4Z3	PCIF1_HUMAN	Q	376	.	ENSP00000361486:R376Q	R	+	2	0	PCIF1	44007035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.564000	0.86499	0.563000	0.77884	CGA		0.562	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1		NM_022104		13	4	0	0	0	1	0	13	4		
PAXBP1	94104	broad.mit.edu	37	21	34120941	34120941	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:34120941T>C	ENST00000331923.4	-	11	1981	c.1792A>G	c.(1792-1794)Att>Gtt	p.I598V	PAXBP1_ENST00000290178.4_Missense_Mutation_p.I598V	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	598					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTGATTTAATACAGTCAATT	0.358																																						uc002yqn.2		NaN																	0				ovary(2)	2						c.(1792-1794)ATT>GTT		GC-rich sequence DNA-binding factor candidate							88.0	86.0	87.0					21																	34120941		2203	4300	6503	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34120941T>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1792A>G	21.37:g.34120941T>C	ENSP00000328992:p.Ile598Val					GCFC1_uc002yql.2_Missense_Mutation_p.I107V|GCFC1_uc002yqm.2_Missense_Mutation_p.I92V|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.I598V	p.I598V	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			11	1982	-			598					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1792A>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390788	0.82902	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.41400	1.0;1.0	5.65	5.65	0.86999	GC-rich sequence DNA-binding factor domain (1);	0.047681	0.85682	D	0.000000	T	0.51346	0.1669	L	0.38692	1.165	0.80722	D	1	D;D;D	0.65815	0.994;0.995;0.99	D;D;P	0.67548	0.94;0.952;0.905	T	0.39396	-0.9616	10	0.16896	T	0.51	-17.9432	15.5492	0.76133	0.0:0.0:0.0:1.0	.	598;598;107	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	V	598	ENSP00000328992:I598V;ENSP00000290178:I598V	ENSP00000290178:I598V	I	-	1	0	GCFC1	33042812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.154000	0.67381	0.455000	0.32223	ATT		0.358	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1		NM_013329		50	16	0	0	0	1	0	50	16		
CRYZL1	9946	broad.mit.edu	37	21	34962153	34962153	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:34962153C>G	ENST00000381554.3	-	13	1110	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	CRYZL1_ENST00000381540.3_3'UTR|DONSON_ENST00000453626.1_5'Flank|DONSON_ENST00000303113.6_5'Flank|DONSON_ENST00000303071.5_5'Flank|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R327T|CRYZL1_ENST00000445393.1_Missense_Mutation_p.E180Q|DONSON_ENST00000432378.1_5'Flank|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000480893.1_5'UTR	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	342					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						TTGCTTTTTTCTTCCTTGATT	0.353																																						uc011adw.1		NaN																	0					0						c.(1024-1026)AGA>ACA		crystallin, zeta-like 1							82.0	79.0	80.0					21																	34962153		2203	4300	6503	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34962153C>G	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.1025G>C	21.37:g.34962153C>G	ENSP00000370966:p.Arg342Thr					DONSON_uc002ysn.1_Intron|DONSON_uc002ysj.2_5'Flank|DONSON_uc002ysk.2_5'Flank|DONSON_uc002ysl.2_5'Flank|DONSON_uc010gme.2_5'Flank|DONSON_uc002ysm.2_5'UTR	p.R342T	NM_145858	NP_665857	O95825	QORL1_HUMAN			13	1205	-			342					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.1025G>C	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.447489|4.447489	0.84101|0.84101	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000445393|ENST00000381554;ENST00000290244	T|T;T	0.28069|0.18502	1.63|2.34;2.21	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.088289	.|0.85682	.|D	.|0.000000	T|T	0.41305|0.41305	0.1153|0.1153	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.66847	.|0.947	T|T	0.07908|0.07908	-1.0748|-1.0748	7|10	0.87932|0.32370	D|T	0|0.25	-15.0966|-15.0966	19.1138|19.1138	0.93330|0.93330	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|342	.|O95825	.|QORL1_HUMAN	Q|T	180|342;327	ENSP00000399730:E180Q|ENSP00000370966:R342T;ENSP00000290244:R327T	ENSP00000399730:E180Q|ENSP00000290244:R327T	E|R	-|-	1|2	0|0	CRYZL1|CRYZL1	33884023|33884023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.279000|4.279000	0.58953|0.58953	2.585000|2.585000	0.87301|0.87301	0.586000|0.586000	0.80456|0.80456	GAA|AGA		0.353	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2		NM_145858		24	12	0	0	0	1	0	24	12		
RSPH1	89765	broad.mit.edu	37	21	43913146	43913146	+	Missense_Mutation	SNP	C	C	T	rs145742147	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:43913146C>T	ENST00000291536.3	-	2	265	c.98G>A	c.(97-99)cGt>cAt	p.R33H	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	33					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TGCCCTCCCACGTCCGTGCCT	0.522													C|||	3	0.000599042	0.0	0.0	5008	,	,		19472	0.0		0.0	False		,,,				2504	0.0031				Esophageal Squamous(23;63 706 6286 10288 12913)	uc002zbg.2		NaN																	0				ovary(1)	1						c.(97-99)CGT>CAT		testis-specific gene A2		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	236.0	213.0	221.0		98	3.8	0.0	21	dbSNP_134	221	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RSPH1	NM_080860.2	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	33/310	43913146	4,13002	2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43913146C>T	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.98G>A	21.37:g.43913146C>T	ENSP00000291536:p.Arg33His					SLC37A1_uc002zbh.1_5'Flank	p.R33H	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN			2	203	-			33			MORN 1.		A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.98G>A	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.515511	0.00975	6.81E-4	1.16E-4	ENSG00000160188	ENST00000291536	T	0.42900	0.96	4.94	3.8	0.43715	.	0.895860	0.09990	N	0.729832	T	0.25044	0.0608	N	0.21282	0.65	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30937	-0.9961	10	0.12766	T	0.61	.	5.0164	0.14339	0.1363:0.1581:0.0:0.7056	.	33	Q8WYR4	RSPH1_HUMAN	H	33	ENSP00000291536:R33H	ENSP00000291536:R33H	R	-	2	0	RSPH1	42786215	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.265000	0.18515	0.861000	0.35504	-0.379000	0.06801	CGT		0.522	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1				137	58	0	0	0	1	0	137	58		
PCNT	5116	broad.mit.edu	37	21	47821561	47821562	+	Missense_Mutation	DNP	TC	TC	GA	rs147564798		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:47821561_47821562TC>GA	ENST00000359568.5	+	26	4995_4996	c.4888_4889TC>GA	c.(4888-4890)TCg>GAg	p.S1630E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1630					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGAGCCTCCTTCGGGCAGCCCT	0.554																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(4888-4890)TCG>GAG		pericentrin																																				SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47821561_47821562TC>GA	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	Exception_encountered	21.37:g.47821561_47821562delinsGA	ENSP00000352572:p.Ser1630Glu					PCNT_uc002zjj.2_Missense_Mutation_p.S1512E	p.S1630E	NM_006031	NP_006022	O95613	PCNT_HUMAN			26	4995_4996	+	Breast(49;0.112)		1630			Potential.		O43152|Q7Z7C9	Missense_Mutation	DNP	ENST00000359568.5	37	c.4888_4889TC>GA	CCDS33592.1																																																																																				0.554	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		55	50	0	0	0	1	0	55	50		
SERPIND1	3053	broad.mit.edu	37	22	21134339	21134339	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:21134339G>A	ENST00000215727.5	+	2	1022	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E247K|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	247					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TTACTTTGCTGAGGCCCAGAT	0.433																																						uc002ztb.1		NaN																	0					0						c.(739-741)GAG>AAG		heparin cofactor II precursor	Ardeparin(DB00407)						124.0	127.0	126.0					22																	21134339		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134339G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.739G>A	22.37:g.21134339G>A	ENSP00000215727:p.Glu247Lys					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E275K	p.E247K	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	806	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	247					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.739G>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047118	0.93740	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.85629	-2.01;-2.01	5.97	5.97	0.96955	Serpin domain (3);	0.044496	0.85682	D	0.000000	D	0.87958	0.6309	M	0.63428	1.95	0.80722	D	1	P;P	0.42973	0.796;0.796	P;B	0.46144	0.505;0.404	D	0.87888	0.2682	10	0.62326	D	0.03	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	247;247	Q8IVC0;P05546	.;HEP2_HUMAN	K	247	ENSP00000215727:E247K;ENSP00000384050:E247K	ENSP00000215727:E247K	E	+	1	0	SERPIND1	19464339	1.000000	0.71417	0.992000	0.48379	0.730000	0.41778	6.717000	0.74707	2.837000	0.97791	0.655000	0.94253	GAG		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		NM_000185		66	197	0	0	0	1	0	66	197		
SERPIND1	3053	broad.mit.edu	37	22	21134464	21134464	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:21134464G>A	ENST00000215727.5	+	2	1147	c.864G>A	c.(862-864)atG>atA	p.M288I	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.M288I|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	288					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCCAGATGATGATTCTCAACT	0.423																																						uc002ztb.1		NaN																	0					0						c.(862-864)ATG>ATA		heparin cofactor II precursor	Ardeparin(DB00407)						163.0	171.0	168.0					22																	21134464		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134464G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.864G>A	22.37:g.21134464G>A	ENSP00000215727:p.Met288Ile					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.M316I	p.M288I	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	931	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	288					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.864G>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154783	0.57259	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.83506	-1.73;-1.73	5.18	5.18	0.71444	Serpin domain (3);	0.191484	0.64402	D	0.000005	T	0.72851	0.3512	N	0.12502	0.225	0.58432	D	0.999992	B;B	0.14012	0.009;0.009	B;B	0.14023	0.01;0.01	T	0.68059	-0.5509	10	0.52906	T	0.07	.	18.8819	0.92358	0.0:0.0:1.0:0.0	.	288;288	Q8IVC0;P05546	.;HEP2_HUMAN	I	288	ENSP00000215727:M288I;ENSP00000384050:M288I	ENSP00000215727:M288I	M	+	3	0	SERPIND1	19464464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.804000	0.85993	2.688000	0.91661	0.655000	0.94253	ATG		0.423	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		NM_000185		70	217	0	0	0	1	0	70	217		
MN1	4330	broad.mit.edu	37	22	28193195	28193195	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:28193195A>C	ENST00000302326.4	-	1	4291	c.3337T>G	c.(3337-3339)Tcg>Gcg	p.S1113A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1113					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCAGGGGTCGAGGTAGAGTTA	0.756			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NaN		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3337-3339)TCG>GCG		meningioma  1							5.0	6.0	6.0					22																	28193195		1767	3893	5660	SO:0001583	missense	4330						binding	g.chr22:28193195A>C	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3337T>G	22.37:g.28193195A>C	ENSP00000304956:p.Ser1113Ala						p.S1113A	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	4292	-			1113					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3337T>G	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105093	0.56291	.	.	ENSG00000169184	ENST00000302326	T	0.55052	0.54	4.3	4.3	0.51218	.	0.000000	0.64402	D	0.000002	T	0.57902	0.2085	L	0.27053	0.805	0.43652	D	0.996063	D	0.61697	0.99	D	0.73380	0.98	T	0.59595	-0.7425	10	0.48119	T	0.1	-6.0929	12.5097	0.56000	1.0:0.0:0.0:0.0	.	1113	Q10571	MN1_HUMAN	A	1113	ENSP00000304956:S1113A	ENSP00000304956:S1113A	S	-	1	0	MN1	26523195	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.293000	0.65680	1.817000	0.53016	0.374000	0.22700	TCG		0.756	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1		NM_002430		6	16	0	0	0	1	0	6	16		
KDELR3	11015	broad.mit.edu	37	22	38875600	38875600	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:38875600G>A	ENST00000216014.4	+	3	367	c.195G>A	c.(193-195)gtG>gtA	p.V65V	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Silent_p.V65V	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	65					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTTTTAGGTGGTTTTTCTCC	0.438																																					Ovarian(11;103 529 24120 28493 32980)	uc003avv.2		NaN																	0				ovary(2)	2						c.(193-195)GTG>GTA		KDEL receptor 3 isoform a							222.0	194.0	203.0					22																	38875600		2203	4300	6503	SO:0001819	synonymous_variant	11015				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	g.chr22:38875600G>A	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.195G>A	22.37:g.38875600G>A						KDELR3_uc003avu.2_Silent_p.V65V	p.V65V	NM_006855	NP_006846	O43731	ERD23_HUMAN			3	351	+	Melanoma(58;0.0286)		65			Helical; (Potential).		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	ENST00000216014.4	37	c.195G>A	CCDS13972.1																																																																																				0.438	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1				59	47	0	0	0	1	0	59	47		
SREBF2	6721	broad.mit.edu	37	22	42271711	42271711	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:42271711C>G	ENST00000361204.4	+	7	1535	c.1369C>G	c.(1369-1371)Cta>Gta	p.L457V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	457	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGGAAGCCCTCTATTGGATGA	0.502																																						uc003bbi.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1369-1371)CTA>GTA		sterol regulatory element-binding transcription							86.0	87.0	87.0					22																	42271711		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271711C>G	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1369C>G	22.37:g.42271711C>G	ENSP00000354476:p.Leu457Val					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	p.L457V	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			7	1538	+			457			Interaction with LMNA (By similarity).|Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.1369C>G	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985295	0.35036	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55052	0.54	5.95	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	L	0.31664	0.95	0.52099	D	0.999948	D	0.71674	0.998	D	0.80764	0.994	T	0.45026	-0.9289	10	0.13853	T	0.58	-15.5669	11.8433	0.52368	0.0:0.732:0.0:0.268	.	457	Q12772	SRBP2_HUMAN	V	457	ENSP00000354476:L457V	ENSP00000354476:L457V	L	+	1	2	SREBF2	40601657	0.070000	0.21116	0.998000	0.56505	0.992000	0.81027	0.019000	0.13444	0.864000	0.35578	0.655000	0.94253	CTA		0.502	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1		NM_004599		36	34	0	0	0	1	0	36	34		
SEPT3	55964	broad.mit.edu	37	22	42392933	42392933	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:42392933C>T	ENST00000396426.3	+	11	1294	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	SEPT3_ENST00000396425.3_3'UTR|WBP2NL_ENST00000328823.9_5'Flank|SEPT3_ENST00000406029.1_Missense_Mutation_p.P283S|SEPT3_ENST00000328414.8_3'UTR	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	347					cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CACTGTCCTTCCACCTGTGCC	0.577																																						uc003bbr.3		NaN																	0					0						c.(1039-1041)CCA>TCA		septin 3 isoform A							158.0	136.0	144.0					22																	42392933		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42392933C>T	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.1039C>T	22.37:g.42392933C>T	ENSP00000379704:p.Pro347Ser					WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_3'UTR|SEPT3_uc010gyr.2_Missense_Mutation_p.P283S|SEPT3_uc011apj.1_3'UTR|SEPT3_uc010gys.2_Missense_Mutation_p.P127S|WBP2NL_uc003bbt.2_5'Flank|WBP2NL_uc011apk.1_5'Flank|WBP2NL_uc003bbu.2_5'Flank	p.P347S	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN			11	1177	+			347					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.1039C>T	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591182	0.46214	.	.	ENSG00000100167	ENST00000396426;ENST00000406029	T;T	0.50277	0.75;0.76	4.23	4.23	0.50019	.	1.851570	0.03061	N	0.155825	T	0.52208	0.1720	N	0.14661	0.345	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.59424	0.857;0.857	T	0.45469	-0.9259	10	0.40728	T	0.16	.	12.3031	0.54887	0.0:1.0:0.0:0.0	.	283;347	B1AHR1;Q9UH03	.;SEPT3_HUMAN	S	347;283	ENSP00000379704:P347S;ENSP00000383956:P283S	ENSP00000379704:P347S	P	+	1	0	SEPT3	40722879	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.492000	0.45311	2.375000	0.81037	0.455000	0.32223	CCA		0.577	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1		NM_145734		46	30	0	0	0	1	0	46	30		
KCNH8	131096	broad.mit.edu	37	3	19575010	19575010	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:19575010G>T	ENST00000328405.2	+	16	3009	c.2743G>T	c.(2743-2745)Gtg>Ttg	p.V915L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	915					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V915L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCACCTCTGTGTGTCCCTC	0.522																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NaN																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2743-2745)GTG>TTG		potassium voltage-gated channel, subfamily H,							102.0	92.0	96.0					3																	19575010		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575010G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2743G>T	3.37:g.19575010G>T	ENSP00000328813:p.Val915Leu					KCNH8_uc010hex.1_Missense_Mutation_p.V376L	p.V915L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			16	2938	+			915			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2743G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	3.627	-0.076278	0.07184	.	.	ENSG00000183960	ENST00000328405	D	0.98437	-4.93	5.58	-0.276	0.12902	.	0.398552	0.14218	U	0.333593	D	0.91744	0.7389	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	D	0.84935	0.0862	9	.	.	.	.	6.2883	0.21045	0.3352:0.3752:0.2897:0.0	.	915	Q96L42	KCNH8_HUMAN	L	915	ENSP00000328813:V915L	.	V	+	1	0	KCNH8	19550014	0.009000	0.17119	0.026000	0.17262	0.679000	0.39708	0.019000	0.13444	0.008000	0.14787	0.655000	0.94253	GTG		0.522	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2		NM_144633		57	22	1	0	2.47907e-22	1	2.61679e-22	57	22		
NEK10	152110	broad.mit.edu	37	3	27346359	27346359	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:27346359C>T	ENST00000429845.2	-	13	1269	c.907G>A	c.(907-909)Gac>Aac	p.D303N	NEK10_ENST00000341435.5_Missense_Mutation_p.D303N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	303					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCAAGTGGTCAGAGTGGAGC	0.542																																						uc003cdt.1		NaN																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(907-909)GAC>AAC		NIMA-related kinase 10 isoform 3							71.0	64.0	66.0					3																	27346359		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27346359C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.907G>A	3.37:g.27346359C>T	ENSP00000395849:p.Asp303Asn						p.D303N	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			13	1181	-			303					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.907G>A		.	.	.	.	.	.	.	.	.	.	C	25.0	4.591643	0.86953	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.49432	0.78	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.124363	0.56097	D	0.000032	T	0.51024	0.1650	L	0.43152	1.355	0.80722	D	1	P	0.52842	0.956	P	0.47528	0.549	T	0.54282	-0.8317	10	0.66056	D	0.02	.	19.5187	0.95176	0.0:1.0:0.0:0.0	.	303	Q6ZWH5	NEK10_HUMAN	N	303	ENSP00000343847:D303N	ENSP00000343847:D303N	D	-	1	0	NEK10	27321363	0.996000	0.38824	0.960000	0.40013	0.862000	0.49288	3.381000	0.52455	2.699000	0.92147	0.655000	0.94253	GAC		0.542	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1		NM_152534		19	18	0	0	0	1	0	19	18		
GLB1	2720	broad.mit.edu	37	3	33110348	33110348	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:33110348C>T	ENST00000399402.3	-	3	401	c.270G>A	c.(268-270)ctG>ctA	p.L90L	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Silent_p.L168L|GLB1_ENST00000307363.5_Silent_p.L120L	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	120					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GCCCGGGCCTCAGGATAACCA	0.562																																						uc003cfi.1		NaN																	0				large_intestine(1)	1						c.(358-360)CTG>CTA		galactosidase, beta 1 isoform a preproprotein							92.0	98.0	96.0					3																	33110348		2011	4184	6195	SO:0001819	synonymous_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33110348C>T	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.270G>A	3.37:g.33110348C>T						GLB1_uc003cfh.1_Silent_p.L90L|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Silent_p.L168L	p.L120L	NM_000404	NP_000395	P16278	BGAL_HUMAN			3	477	-		Melanoma(143;0.104)	120					B2R7H8|B7Z6B0|P16279	Silent	SNP	ENST00000399402.3	37	c.360G>A	CCDS43062.1																																																																																				0.562	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2		NM_000404		45	27	0	0	0	1	0	45	27		
XIRP1	165904	broad.mit.edu	37	3	39228107	39228107	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:39228107G>A	ENST00000340369.3	-	2	3058	c.2830C>T	c.(2830-2832)Ctg>Ttg	p.L944L	XIRP1_ENST00000396251.1_Silent_p.L944L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	944					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)		TCCCACCGCAGACTGTGCAGG	0.637																																						uc003cjk.1		NaN																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2830-2832)CTG>TTG		xin actin-binding repeat containing 1							32.0	34.0	34.0					3																	39228107		2203	4299	6502	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39228107G>A	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.2830C>T	3.37:g.39228107G>A						XIRP1_uc003cji.2_Silent_p.L944L|XIRP1_uc003cjj.2_Intron	p.L944L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3051	-			944					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.2830C>T	CCDS2683.1																																																																																				0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1		XM_093522		39	14	0	0	0	1	0	39	14		
GPR62	118442	broad.mit.edu	37	3	51990695	51990695	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:51990695G>A	ENST00000322241.4	+	1	1366	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGCCCTTCTGAGGCTCCAGA	0.672																																						uc003dca.3		NaN																	0				ovary(1)	1						c.(1027-1029)GAG>AAG		G protein-coupled receptor 62							16.0	21.0	19.0					3																	51990695		2175	4263	6438	SO:0001583	missense	118442					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:51990695G>A	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.1027G>A	3.37:g.51990695G>A	ENSP00000319250:p.Glu343Lys						p.E343K	NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1366	+			343			Cytoplasmic (Potential).		F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	c.1027G>A	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310579	0.40895	.	.	ENSG00000180929	ENST00000322241	T	0.03124	4.04	4.98	3.13	0.36017	.	0.726830	0.10634	N	0.651788	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48843	-0.8999	10	0.06757	T	0.87	-20.01	6.7279	0.23367	0.0984:0.1796:0.722:0.0	.	343	Q9BZJ7	GPR62_HUMAN	K	343	ENSP00000319250:E343K	ENSP00000319250:E343K	E	+	1	0	GPR62	51965735	0.388000	0.25197	0.011000	0.14972	0.211000	0.24417	3.526000	0.53509	0.466000	0.27193	0.561000	0.74099	GAG		0.672	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1				22	10	0	0	0	1	0	22	10		
ALAS1	211	broad.mit.edu	37	3	52246323	52246323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:52246323G>A	ENST00000394965.2	+	11	2009	c.1649G>A	c.(1648-1650)aGa>aAa	p.R550K	ALAS1_ENST00000484952.1_Missense_Mutation_p.R550K|ALAS1_ENST00000469224.1_Missense_Mutation_p.R550K|ALAS1_ENST00000310271.2_Missense_Mutation_p.R550K	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	550					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CTAATGAGCAGACATAACATC	0.498																																						uc003dcy.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1648-1650)AGA>AAA		5-aminolevulinate synthase 1 precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						245.0	248.0	247.0					3																	52246323		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52246323G>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1649G>A	3.37:g.52246323G>A	ENSP00000378416:p.Arg550Lys					ALAS1_uc003dcz.1_Missense_Mutation_p.R550K|ALAS1_uc011bec.1_Missense_Mutation_p.R567K	p.R550K	NM_000688	NP_000679	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	11	1986	+			550						Missense_Mutation	SNP	ENST00000394965.2	37	c.1649G>A	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.749|5.749	0.322579|0.322579	0.10900|0.10900	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000493402|ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	.|D;D;D;D	.|0.90620	.|-2.7;-2.7;-2.7;-2.7	4.94|4.94	2.82|2.82	0.32997|0.32997	.|Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.350604	.|0.33591	.|N	.|0.004754	T|T	0.75649|0.75649	0.3878|0.3878	N|N	0.13235|0.13235	0.315|0.315	0.35640|0.35640	D|D	0.810872|0.810872	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.09377	.|0.004;0.004	T|T	0.66771|0.66771	-0.5839|-0.5839	5|10	.|0.02654	.|T	.|1	-11.3012|-11.3012	5.8337|5.8337	0.18594|0.18594	0.3827:0.0:0.6173:0.0|0.3827:0.0:0.6173:0.0	.|.	.|567;550	.|B4DVA0;P13196	.|.;HEM1_HUMAN	N|K	147|550	.|ENSP00000417719:R550K;ENSP00000378416:R550K;ENSP00000309259:R550K;ENSP00000418779:R550K	.|ENSP00000309259:R550K	D|R	+|+	1|2	0|0	ALAS1|ALAS1	52221363|52221363	0.941000|0.941000	0.31946|0.31946	0.951000|0.951000	0.38953|0.38953	0.880000|0.880000	0.50808|0.50808	3.653000|3.653000	0.54446|0.54446	1.067000|1.067000	0.40740|0.40740	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.498	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1				197	72	0	0	0	1	0	197	72		
ROBO2	6092	broad.mit.edu	37	3	77657032	77657032	+	Silent	SNP	C	C	T	rs143136849		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:77657032C>T	ENST00000461745.1	+	21	4120	c.3220C>T	c.(3220-3222)Cta>Tta	p.L1074L	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Silent_p.L1090L|ROBO2_ENST00000332191.8_Silent_p.L1074L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1074					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.L1074L(1)|p.L1090L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAATGTCCCTCTACCTCCCCC	0.423																																						uc003dpy.3		NaN																	2	Substitution - coding silent(2)	p.L1074L(1)|p.L1090L(1)	skin(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3220-3222)CTA>TTA		roundabout, axon guidance receptor, homolog 2							71.0	77.0	75.0					3																	77657032		1843	4085	5928	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77657032C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3220C>T	3.37:g.77657032C>T						ROBO2_uc003dpz.2_Silent_p.L1078L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L1078L|ROBO2_uc003dqa.2_Silent_p.L201L	p.L1074L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	21	3863	+			1074			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.3220C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	4.457	0.084631	0.08583	.	.	ENSG00000185008	ENST00000471893	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.80341	0.4605	.	.	.	0.31099	N	0.710612	.	.	.	.	.	.	T	0.77736	-0.2476	3	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	F	190	.	.	S	+	2	0	ROBO2	77739722	1.000000	0.71417	0.957000	0.39632	0.675000	0.39556	4.645000	0.61404	2.824000	0.97209	0.655000	0.94253	TCT		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246		10	34	0	0	0	1	0	10	34		
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:97726706C>T	ENST00000472788.1	-	0	657					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGACTTGTTTCCGTGTTTCCA	0.373																																						uc011bgr.1		NaN																	0					0						c.(655-657)GGA>GAA		gamma-aminobutyric acid (GABA) receptor, rho 3							168.0	154.0	158.0					3																	97726706		1923	4133	6056			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97726706C>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97726706C>T							p.G219E	NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN			6	656	-			219			Extracellular (Potential).		Q9UIV9	Missense_Mutation	SNP	ENST00000472788.1	37	c.656G>A																																																																																					0.373	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2				6	13	0	0	0	1	0	6	13		
BBX	56987	broad.mit.edu	37	3	107474514	107474514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:107474514C>T	ENST00000325805.8	+	10	1182	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	BBX_ENST00000402543.1_Nonsense_Mutation_p.Q299*|BBX_ENST00000406780.1_Nonsense_Mutation_p.Q299*|BBX_ENST00000416476.2_Nonsense_Mutation_p.Q299*|BBX_ENST00000415149.2_Nonsense_Mutation_p.Q299*			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	299					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGCACTCTTTCAACTGGCAGA	0.388																																						uc010hpr.2		NaN																	0				ovary(3)|skin(1)	4						c.(895-897)CAA>TAA		HMG-BOX transcription factor BBX isoform 1							111.0	120.0	117.0					3																	107474514		2203	4300	6503	SO:0001587	stop_gained	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107474514C>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.895C>T	3.37:g.107474514C>T	ENSP00000319974:p.Gln299*					BBX_uc003dwk.3_Nonsense_Mutation_p.Q299*|BBX_uc003dwl.3_Nonsense_Mutation_p.Q299*|BBX_uc010hps.1_Nonsense_Mutation_p.Q320*|BBX_uc003dwm.3_Nonsense_Mutation_p.Q299*	p.Q299*	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		10	1222	+			299					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Nonsense_Mutation	SNP	ENST00000325805.8	37	c.895C>T	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.317807	0.98207	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000402163;ENST00000406780	.	.	.	5.57	5.57	0.84162	.	0.181255	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5422	15.3872	0.74711	0.0:1.0:0.0:0.0	.	.	.	.	X	299;150;299;299;299;299;299	.	ENSP00000319742:Q150X	Q	+	1	0	BBX	108957204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.538000	0.60650	2.779000	0.95612	0.591000	0.81541	CAA		0.388	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1		NM_020235		25	59	0	0	0	1	0	25	59		
GPR156	165829	broad.mit.edu	37	3	119905579	119905579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:119905579C>T	ENST00000464295.1	-	6	971	c.526G>A	c.(526-528)Gat>Aat	p.D176N	GPR156_ENST00000461057.1_Missense_Mutation_p.D176N|GPR156_ENST00000315843.3_Missense_Mutation_p.D176N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGATCACATCAGCCATCAAC	0.502																																						uc011bjf.1		NaN																	0				ovary(1)|skin(1)	2						c.(526-528)GAT>AAT		G protein-coupled receptor 156							118.0	117.0	118.0					3																	119905579		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119905579C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.526G>A	3.37:g.119905579C>T	ENSP00000417261:p.Asp176Asn					GPR156_uc011bjg.1_Missense_Mutation_p.D176N	p.D176N	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	5	526	-			176			Helical; (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.526G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466854	0.96257	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.87966	-2.32;-2.32;-2.32	5.49	5.49	0.81192	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.94830	0.8330	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95212	0.8326	9	.	.	.	-15.1211	18.3696	0.90402	0.0:1.0:0.0:0.0	.	176;176	E9PFZ4;Q8NFN8	.;GP156_HUMAN	N	176	ENSP00000417261:D176N;ENSP00000324553:D176N;ENSP00000418758:D176N	.	D	-	1	0	GPR156	121388269	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	7.198000	0.77823	2.585000	0.87301	0.561000	0.74099	GAT		0.502	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1		NM_153002		32	66	0	0	0	1	0	32	66		
STXBP5L	9515	broad.mit.edu	37	3	121126442	121126442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:121126442G>A	ENST00000273666.6	+	24	3283	c.3012G>A	c.(3010-3012)atG>atA	p.M1004I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.M980I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.M978I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.M980I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.M1004I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1004					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GACATATCATGATAATGAGGT	0.373																																						uc003eec.3		NaN																	0				ovary(7)|skin(2)	9						c.(3010-3012)ATG>ATA		syntaxin binding protein 5-like							93.0	83.0	86.0					3																	121126442		1918	4140	6058	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126442G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3012G>A	3.37:g.121126442G>A	ENSP00000273666:p.Met1004Ile					STXBP5L_uc011bji.1_Missense_Mutation_p.M980I	p.M1004I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3152	+			1004			WD 13.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.3012G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292257	0.40594	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.57	5.57	0.84162	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.72576	2.205	0.58432	D	0.999998	B;B	0.13145	0.007;0.007	B;B	0.19391	0.025;0.025	T	0.04440	-1.0951	10	0.23891	T	0.37	-15.9964	15.1597	0.72775	0.0:0.0:0.8582:0.1418	.	980;1004	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	1004;980;980;978;1004;947	ENSP00000273666:M1004I;ENSP00000420019:M980I;ENSP00000419627:M980I;ENSP00000420287:M978I;ENSP00000420666:M1004I;ENSP00000420167:M947I	ENSP00000273666:M1004I	M	+	3	0	STXBP5L	122609132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.462000	0.80851	2.775000	0.95449	0.650000	0.86243	ATG		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3				32	35	0	0	0	1	0	32	35		
POLQ	10721	broad.mit.edu	37	3	121251880	121251880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:121251880G>T	ENST00000264233.5	-	6	1045	c.917C>A	c.(916-918)tCa>tAa	p.S306*	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	306					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTTTCATTGAAGAGTCATA	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(916-918)TCA>TAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							73.0	77.0	75.0					3																	121251880		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121251880G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.917C>A	3.37:g.121251880G>T	ENSP00000264233:p.Ser306*						p.S306*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	6	1046	-			306					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.917C>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	38	6.976600	0.97975	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	.	.	.	5.29	5.29	0.74685	.	0.746407	0.13419	N	0.389302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1721	0.65517	0.0:0.0:0.8502:0.1498	.	.	.	.	X	306;441	.	ENSP00000264233:S306X	S	-	2	0	POLQ	122734570	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.748000	0.55142	2.631000	0.89168	0.460000	0.39030	TCA		0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		13	30	1	0	5.50884e-06	1	5.59432e-06	13	30		
OSBPL11	114885	broad.mit.edu	37	3	125313607	125313607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:125313607G>A	ENST00000296220.5	-	1	327	c.38C>T	c.(37-39)tCg>tTg	p.S13L		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	13					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTCGCTCTCCGAGACTTTCAT	0.562																																						uc003eic.2		NaN																	0				ovary(3)|breast(1)|kidney(1)	5						c.(37-39)TCG>TTG		oxysterol binding protein-like 11							113.0	95.0	101.0					3																	125313607		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125313607G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.38C>T	3.37:g.125313607G>A	ENSP00000296220:p.Ser13Leu						p.S13L	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			1	775	-			13					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.38C>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.327928	0.60743	.	.	ENSG00000144909	ENST00000296220	T	0.18657	2.2	4.64	4.64	0.57946	.	2.825440	0.01176	N	0.006961	T	0.34803	0.0910	N	0.19112	0.55	0.44289	D	0.997151	D	0.64830	0.994	P	0.61201	0.885	T	0.09079	-1.0691	10	0.62326	D	0.03	-12.6449	13.1873	0.59688	0.0:0.0:1.0:0.0	.	13	Q9BXB4	OSB11_HUMAN	L	13	ENSP00000296220:S13L	ENSP00000296220:S13L	S	-	2	0	OSBPL11	126796297	0.995000	0.38212	0.971000	0.41717	0.834000	0.47266	3.719000	0.54926	2.558000	0.86282	0.484000	0.47621	TCG		0.562	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1		NM_022776		15	23	0	0	0	1	0	15	23		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		12	8	0	0	0	1	0	12	8		
ATP2C1	27032	broad.mit.edu	37	3	130694262	130694262	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:130694262G>A	ENST00000510168.1	+	18	2050	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	ATP2C1_ENST00000504381.1_Silent_p.L445L|ATP2C1_ENST00000513801.1_Silent_p.L484L|ATP2C1_ENST00000393221.4_Silent_p.L534L|ATP2C1_ENST00000428331.2_Silent_p.L500L|ATP2C1_ENST00000359644.3_Silent_p.L500L|ATP2C1_ENST00000504948.1_Silent_p.L484L|ATP2C1_ENST00000508532.1_Silent_p.L500L|ATP2C1_ENST00000328560.8_Silent_p.L500L|ATP2C1_ENST00000507488.2_Silent_p.L484L|ATP2C1_ENST00000422190.2_Silent_p.L500L|ATP2C1_ENST00000505330.1_Silent_p.L484L|ATP2C1_ENST00000533801.2_Silent_p.L495L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	500					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCAGACCTTGACACTTACTC	0.463									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NaN																	0				skin(1)	1						c.(1498-1500)TTG>TTA		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						135.0	121.0	126.0					3																	130694262		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130694262G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1500G>A	3.37:g.130694262G>A						ATP2C1_uc011blg.1_Silent_p.L534L|ATP2C1_uc011blh.1_Silent_p.L495L|ATP2C1_uc011bli.1_Silent_p.L534L|ATP2C1_uc003enk.2_Silent_p.L484L|ATP2C1_uc003enm.2_Silent_p.L500L|ATP2C1_uc003enn.2_Silent_p.L484L|ATP2C1_uc003eno.2_Silent_p.L500L|ATP2C1_uc003enp.2_Silent_p.L500L|ATP2C1_uc003enq.2_Silent_p.L500L|ATP2C1_uc003enr.2_Silent_p.L500L|ATP2C1_uc003ens.2_Silent_p.L500L|ATP2C1_uc003ent.2_Silent_p.L500L|ATP2C1_uc003enu.2_Silent_p.L178L	p.L500L	NM_014382	NP_055197	P98194	AT2C1_HUMAN			18	1722	+			500			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.1500G>A	CCDS46914.1																																																																																				0.463	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2		NM_001001486		25	33	0	0	0	1	0	25	33		
STAG1	10274	broad.mit.edu	37	3	136076567	136076567	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:136076567C>G	ENST00000383202.2	-	28	3316	c.3060G>C	c.(3058-3060)aaG>aaC	p.K1020N	STAG1_ENST00000434713.2_Missense_Mutation_p.K760N|STAG1_ENST00000236698.5_Missense_Mutation_p.K1020N|STAG1_ENST00000536929.1_Missense_Mutation_p.K604N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1020					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTACACTGTCTTTTTGTCCT	0.294																																						uc003era.1		NaN																	0				ovary(2)	2						c.(3058-3060)AAG>AAC		stromal antigen 1							79.0	79.0	79.0					3																	136076567		2202	4297	6499	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136076567C>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3060G>C	3.37:g.136076567C>G	ENSP00000372689:p.Lys1020Asn					STAG1_uc003erb.1_Missense_Mutation_p.K1020N	p.K1020N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			28	3352	-			1020					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.3060G>C	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461646	0.43736	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.28	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	M	0.81497	2.545	0.58432	D	0.999999	D;P	0.56287	0.975;0.834	P;P	0.57468	0.821;0.536	T	0.80200	-0.1481	10	0.25751	T	0.34	.	10.0816	0.42393	0.0:0.8349:0.0:0.1651	.	1020;1020	Q6P275;Q8WVM7	.;STAG1_HUMAN	N	1020;1020;760;604	ENSP00000372689:K1020N;ENSP00000236698:K1020N;ENSP00000404396:K760N;ENSP00000445787:K604N	ENSP00000236698:K1020N	K	-	3	2	STAG1	137559257	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.240000	0.51368	0.584000	0.29591	-0.237000	0.12165	AAG		0.294	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862		18	34	0	0	0	1	0	18	34		
MRPS22	56945	broad.mit.edu	37	3	139071544	139071544	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:139071544G>A	ENST00000495075.1	+	8	1220	c.788G>A	c.(787-789)cGt>cAt	p.R263H	MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H|MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	263						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GACCTTTTACGTTCAACAAGA	0.323																																						uc003etb.2		NaN																	0				ovary(2)|skin(1)	3						c.(787-789)CGT>CAT		mitochondrial ribosomal protein S22							156.0	153.0	154.0					3																	139071544		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139071544G>A	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.788G>A	3.37:g.139071544G>A	ENSP00000418008:p.Arg263His					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.R262H|MRPS22_uc003ete.2_Missense_Mutation_p.R222H	p.R263H	NM_020191	NP_064576	P82650	RT22_HUMAN			6	796	+			263					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.788G>A	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334014	0.95758	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.86	5.86	0.93980	.	0.152780	0.64402	D	0.000018	D	0.85687	0.5754	M	0.76838	2.35	0.80722	D	1	P;P;P	0.43094	0.631;0.761;0.799	B;B;B	0.35770	0.094;0.133;0.21	D	0.87662	0.2535	10	0.66056	D	0.02	-3.6688	19.769	0.96353	0.0:0.0:1.0:0.0	.	222;262;263	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	H	263;263;262;222	ENSP00000418008:R263H;ENSP00000310785:R263H;ENSP00000418233:R262H;ENSP00000419303:R222H	ENSP00000310785:R263H	R	+	2	0	MRPS22	140554234	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.966000	0.93397	2.773000	0.95371	0.655000	0.94253	CGT		0.323	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1		NM_020191		21	41	0	0	0	1	0	21	41		
MFSD1	64747	broad.mit.edu	37	3	158519993	158519993	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:158519993G>A	ENST00000264266.8	+	1	114	c.52G>A	c.(52-54)Gag>Aag	p.E18K	MFSD1_ENST00000392813.4_Missense_Mutation_p.E67K|RP11-379F4.9_ENST00000607044.1_RNA|MFSD1_ENST00000415822.2_Missense_Mutation_p.E67K			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	18					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGGCCCTGACGAGGCCGACAG	0.682																																					Pancreas(62;1186 1654 36636 37908)	uc003fcl.1		NaN																	0					0						c.(52-54)GAG>AAG		major facilitator superfamily domain containing							12.0	15.0	14.0					3																	158519993		2194	4288	6482	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158519993G>A	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.52G>A	3.37:g.158519993G>A	ENSP00000264266:p.Glu18Lys					MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_5'UTR|MFSD1_uc011bow.1_Missense_Mutation_p.E18K|MFSD1_uc011box.1_5'UTR	p.E18K	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		1	82	+			18					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.52G>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.314143	0.81358	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	T;T;T	0.22743	2.18;1.94;2.26	4.66	3.78	0.43462	Major facilitator superfamily domain, general substrate transporter (1);	0.720360	0.12305	N	0.480709	T	0.13500	0.0327	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.30937	-0.9961	10	0.19147	T	0.46	.	9.0289	0.36247	0.1042:0.0:0.8958:0.0	.	67;18	C9JS94;Q9H3U5	.;MFSD1_HUMAN	K	67;67;18;18	ENSP00000403117:E67K;ENSP00000376560:E67K;ENSP00000264266:E18K	ENSP00000264266:E18K	E	+	1	0	MFSD1	160002687	0.010000	0.17322	0.026000	0.17262	0.010000	0.07245	1.320000	0.33666	0.956000	0.37904	0.563000	0.77884	GAG		0.682	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1		NM_022736		4	12	0	0	0	1	0	4	12		
KPNA4	3840	broad.mit.edu	37	3	160219955	160219955	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:160219955A>C	ENST00000334256.4	-	17	1808	c.1503T>G	c.(1501-1503)atT>atG	p.I501M		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	501					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTCCGCCTTGAATTGCCTCTG	0.348																																						uc003fdn.2		NaN																	0					0						c.(1501-1503)ATT>ATG		karyopherin alpha 4							114.0	111.0	112.0					3																	160219955		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160219955A>C	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1503T>G	3.37:g.160219955A>C	ENSP00000334373:p.Ile501Met						p.I501M	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		17	1809	-			501					A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.1503T>G	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505883	0.44558	.	.	ENSG00000186432	ENST00000334256	T	0.63096	-0.02	5.3	1.42	0.22433	.	0.273222	0.39834	N	0.001257	T	0.33990	0.0882	N	0.04203	-0.255	0.36399	D	0.862998	B	0.29162	0.235	B	0.29598	0.104	T	0.16100	-1.0414	10	0.48119	T	0.1	-1.4132	5.7598	0.18192	0.3231:0.0:0.3488:0.3281	.	501	O00629	IMA4_HUMAN	M	501	ENSP00000334373:I501M	ENSP00000334373:I501M	I	-	3	3	KPNA4	161702649	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.006000	0.40874	0.064000	0.16427	0.456000	0.33151	ATT		0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1		NM_002268		34	45	0	0	0	1	0	34	45		
MYNN	55892	broad.mit.edu	37	3	169496653	169496653	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:169496653G>A	ENST00000349841.5	+	3	1027	c.364G>A	c.(364-366)Gct>Act	p.A122T	MYNN_ENST00000392733.1_Missense_Mutation_p.A122T|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.A122T|MYNN_ENST00000356716.4_Missense_Mutation_p.A122T	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGCTTTTATTGCTAATCCTTC	0.343																																						uc003fft.2		NaN																	0				skin(1)	1						c.(364-366)GCT>ACT		myoneurin							72.0	76.0	74.0					3																	169496653		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169496653G>A	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.364G>A	3.37:g.169496653G>A	ENSP00000326240:p.Ala122Thr					MYNN_uc011bpm.1_Missense_Mutation_p.A8T|MYNN_uc003ffu.2_Missense_Mutation_p.A122T|MYNN_uc003ffv.2_Intron|MYNN_uc010hwo.2_Missense_Mutation_p.A122T|MYNN_uc003ffw.1_5'Flank	p.A122T	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	793	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		122					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.364G>A	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424268	0.62733	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.10288	3.07;3.07;2.9;2.89	5.54	5.54	0.83059	.	0.077529	0.53938	D	0.000045	T	0.16300	0.0392	N	0.14661	0.345	0.39925	D	0.974202	B;D	0.63880	0.319;0.993	B;D	0.68192	0.121;0.956	T	0.08452	-1.0721	10	0.41790	T	0.15	.	12.7906	0.57530	0.0747:0.0:0.9253:0.0	.	122;122	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	T	122	ENSP00000349150:A122T;ENSP00000326240:A122T;ENSP00000376492:A122T;ENSP00000440637:A122T	ENSP00000326240:A122T	A	+	1	0	MYNN	170979347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.011000	0.64011	2.616000	0.88540	0.650000	0.86243	GCT		0.343	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1		NM_018657		24	56	0	0	0	1	0	24	56		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				20	15	0	0	0	1	0	20	15		
MCCC1	56922	broad.mit.edu	37	3	182804570	182804570	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:182804570C>T	ENST00000265594.4	-	4	426	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	94	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GAATATGCTTCATCTGCCTGT	0.438																																						uc003fle.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(280-282)GAA>AAA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						72.0	61.0	64.0					3																	182804570		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182804570C>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.280G>A	3.37:g.182804570C>T	ENSP00000265594:p.Glu94Lys					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_Intron|MCCC1_uc003flf.2_Missense_Mutation_p.M17I|MCCC1_uc003flg.2_5'UTR|MCCC1_uc011bqp.1_Missense_Mutation_p.E47K|MCCC1_uc011bqq.1_5'UTR	p.E94K	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		4	417	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		94			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.280G>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933892	0.92458	.	.	ENSG00000078070	ENST00000265594;ENST00000476176;ENST00000448585	D;D	0.97620	-4.46;-4.46	5.5	5.5	0.81552	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.92784	3.345	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.74674	0.984;0.919	D	0.99494	1.0951	10	0.66056	D	0.02	.	18.991	0.92793	0.0:1.0:0.0:0.0	.	47;94	E9PG35;Q96RQ3	.;MCCA_HUMAN	K	94;47;47	ENSP00000265594:E94K;ENSP00000420433:E47K	ENSP00000265594:E94K	E	-	1	0	MCCC1	184287264	1.000000	0.71417	0.922000	0.36590	0.698000	0.40448	5.467000	0.66737	2.601000	0.87937	0.563000	0.77884	GAA		0.438	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166		6	5	0	0	0	1	0	6	5		
MB21D2	151963	broad.mit.edu	37	3	192516517	192516517	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:192516517G>A	ENST00000392452.2	-	2	1454	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	378							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ACTGAGGGATGAAATAATTGG	0.532																																						uc011bsp.1		NaN																	0					0						c.(1132-1134)TTC>TTT		hypothetical protein LOC151963							73.0	58.0	63.0					3																	192516517		2203	4300	6503	SO:0001819	synonymous_variant	151963							g.chr3:192516517G>A	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1134C>T	3.37:g.192516517G>A							p.F378F	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1455	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		378					Q86VD8	Silent	SNP	ENST00000392452.2	37	c.1134C>T	CCDS3302.2																																																																																				0.532	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1		NM_178496		19	46	0	0	0	1	0	19	46		
RNF168	165918	broad.mit.edu	37	3	196198864	196198864	+	Silent	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:196198864T>A	ENST00000318037.3	-	6	2136	c.1542A>T	c.(1540-1542)tcA>tcT	p.S514S	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	514					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTTGTCCCTTGAGCCTCTCT	0.423																																						uc003fwq.2		NaN																	0					0						c.(1540-1542)TCA>TCT		ring finger protein 168							333.0	310.0	318.0					3																	196198864		2203	4300	6503	SO:0001819	synonymous_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196198864T>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1542A>T	3.37:g.196198864T>A						RNF168_uc010iah.2_Silent_p.S347S|uc010iag.1_5'Flank	p.S514S	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	2080	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		514					Q8NA67|Q96NS4	Silent	SNP	ENST00000318037.3	37	c.1542A>T	CCDS3317.1																																																																																				0.423	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1		NM_152617		87	191	0	0	0	1	0	87	191		
PIGZ	80235	broad.mit.edu	37	3	196675332	196675332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:196675332G>A	ENST00000412723.1	-	3	582	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIGZ_ENST00000443835.1_Intron	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	146					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGGCCAGGTGGTACACGGCC	0.667																																						uc003fxh.2		NaN																	0				ovary(3)	3						c.(436-438)CAC>TAC		phosphatidylinositol glycan anchor biosynthesis,							49.0	42.0	44.0					3																	196675332		2202	4300	6502	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675332G>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.436C>T	3.37:g.196675332G>A	ENSP00000413405:p.His146Tyr						p.H146Y	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	583	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		146			Helical; (Potential).		Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.436C>T	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	g	8.988	0.976918	0.18812	.	.	ENSG00000119227	ENST00000412723	T	0.62941	-0.01	5.25	2.46	0.29980	.	0.882105	0.09690	N	0.768558	T	0.53318	0.1789	M	0.67953	2.075	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42258	-0.9462	10	0.02654	T	1	-2.2047	8.004	0.30315	0.1462:0.1317:0.7221:0.0	.	146	Q86VD9	PIGZ_HUMAN	Y	146	ENSP00000413405:H146Y	ENSP00000413405:H146Y	H	-	1	0	PIGZ	198159729	0.990000	0.36364	1.000000	0.80357	0.426000	0.31534	2.181000	0.42547	0.315000	0.23110	0.538000	0.68166	CAC		0.667	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2		NM_025163		13	24	0	0	0	1	0	13	24		
LRCH3	84859	broad.mit.edu	37	3	197597072	197597072	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:197597072G>A	ENST00000425562.2	+	18	1915	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	LRCH3_ENST00000536618.1_Missense_Mutation_p.D234N|LRCH3_ENST00000334859.4_Missense_Mutation_p.D639N|LRCH3_ENST00000414675.2_Missense_Mutation_p.D587N|LRCH3_ENST00000438796.2_Missense_Mutation_p.D639N|LRCH3_ENST00000441090.2_Missense_Mutation_p.D485N			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	639						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ACCTACCACTGATTCTACAGA	0.403																																						uc011bul.1		NaN																	0				ovary(1)	1						c.(1915-1917)GAT>AAT		leucine-rich repeats and calponin homology (CH)							146.0	156.0	152.0					3																	197597072		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197597072G>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1915G>A	3.37:g.197597072G>A	ENSP00000393579:p.Asp639Asn					LRCH3_uc003fyj.1_Missense_Mutation_p.D639N|LRCH3_uc011bum.1_Missense_Mutation_p.D587N|LRCH3_uc011bun.1_Missense_Mutation_p.D485N|LRCH3_uc003fyk.2_Missense_Mutation_p.D234N	p.D639N	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	18	1920	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		639					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1915G>A		.	.	.	.	.	.	.	.	.	.	G	12.53	1.964302	0.34659	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	T;T;T;T;T;T;T;T	0.45276	2.07;1.49;2.04;2.33;2.09;0.9;0.94;0.96	5.19	5.19	0.71726	.	0.244427	0.35067	N	0.003475	T	0.30324	0.0761	N	0.24115	0.695	0.28354	N	0.920756	P;B;B;B;P	0.37663	0.565;0.381;0.404;0.282;0.604	B;B;B;B;B	0.36845	0.156;0.075;0.109;0.075;0.234	T	0.28744	-1.0034	10	0.49607	T	0.09	-7.1406	12.7899	0.57528	0.0801:0.0:0.9199:0.0	.	485;587;639;639;639	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	N	639;485;587;639;639;234;114;76	ENSP00000399751:D639N;ENSP00000394609:D485N;ENSP00000394965:D587N;ENSP00000334375:D639N;ENSP00000393579:D639N;ENSP00000439083:D234N;ENSP00000395309:D114N;ENSP00000400164:D76N	ENSP00000334375:D639N	D	+	1	0	LRCH3	199081469	0.996000	0.38824	0.467000	0.27180	0.077000	0.17291	4.957000	0.63652	2.398000	0.81561	0.650000	0.86243	GAT		0.403	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1		NM_032773		47	84	0	0	0	1	0	47	84		
ZNF718	255403	broad.mit.edu	37	4	155410	155410	+	lincRNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:155410C>T	ENST00000510175.1	+	0	845							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAACCCTTCTCATGCGAAGAA	0.388																																						uc003fzt.3		NaN																	0					0						c.(934-936)TCA>TTA		zinc finger protein 718							30.0	34.0	32.0					4																	155410		2112	4260	6372			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155410C>T	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155410C>T						ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.H92Y	p.S312L	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	1068	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	312			C2H2-type 6.		Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37	c.935C>T																																																																																					0.388	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3		NM_001039127		10	17	0	0	0	1	0	10	17		
WHSC1	7468	broad.mit.edu	37	4	1932436	1932436	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:1932436G>A	ENST00000382895.3	+	8	1925	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	WHSC1_ENST00000420906.2_Silent_p.Q498Q|WHSC1_ENST00000503128.1_Silent_p.Q498Q|WHSC1_ENST00000398261.1_Silent_p.Q498Q|WHSC1_ENST00000514045.1_Silent_p.Q498Q|WHSC1_ENST00000382892.2_Silent_p.Q498Q|WHSC1_ENST00000382891.5_Silent_p.Q498Q|WHSC1_ENST00000508803.1_Silent_p.Q498Q	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	498					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTGAGAAGCAGAGAGCACGCT	0.537			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1492-1494)CAG>CAA		Wolf-Hirschhorn syndrome candidate 1 protein							139.0	126.0	130.0					4																	1932436		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1932436G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1494G>A	4.37:g.1932436G>A						WHSC1_uc003geb.3_Silent_p.Q498Q|WHSC1_uc003gec.3_Silent_p.Q498Q|WHSC1_uc003ged.3_Silent_p.Q498Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Silent_p.Q498Q|WHSC1_uc010icd.1_Silent_p.Q498Q|WHSC1_uc003gea.1_Silent_p.Q498Q|WHSC1_uc010ice.1_Silent_p.Q498Q|WHSC1_uc003geh.1_Silent_p.Q498Q	p.Q498Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	6	1670	+		all_epithelial(65;1.34e-05)	498			HMG box.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.1494G>A	CCDS33940.1																																																																																				0.537	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		17	28	0	0	0	1	0	17	28		
POLN	353497	broad.mit.edu	37	4	2209868	2209868	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:2209868G>A	ENST00000511885.2	-	5	913	c.560C>T	c.(559-561)tCt>tTt	p.S187F	POLN_ENST00000382865.1_Missense_Mutation_p.S187F|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	187					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TGAGTTCCCAGAATTTAGGTA	0.368								DNA polymerases (catalytic subunits)																														uc003ger.2		NaN																	0				kidney(2)|ovary(1)|skin(1)	4						c.(559-561)TCT>TTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							116.0	115.0	115.0					4																	2209868		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2209868G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.560C>T	4.37:g.2209868G>A	ENSP00000435506:p.Ser187Phe					POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.S187F	p.S187F	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		3	560	-			187					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.560C>T	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400804	0.62177	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.03663	3.85;3.85	5.27	4.43	0.53597	.	0.319686	0.27411	N	0.019495	T	0.07234	0.0183	L	0.29908	0.895	0.19775	N	0.999952	D;D	0.61080	0.989;0.976	P;P	0.55667	0.781;0.656	T	0.13818	-1.0495	10	0.59425	D	0.04	-5.862	11.7889	0.52057	0.0:0.191:0.809:0.0	.	187;187	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	F	187	ENSP00000435506:S187F;ENSP00000372316:S187F	ENSP00000372316:S187F	S	-	2	0	POLN	2179666	0.014000	0.17966	0.052000	0.19188	0.219000	0.24729	1.988000	0.40697	1.197000	0.43143	0.561000	0.74099	TCT		0.368	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		33	54	0	0	0	1	0	33	54		
ADD1	118	broad.mit.edu	37	4	2900171	2900171	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:2900171C>G	ENST00000398129.1	+	7	917	c.897C>G	c.(895-897)ctC>ctG	p.L299L	ADD1_ENST00000503455.2_Silent_p.L299L|ADD1_ENST00000264758.7_Silent_p.L299L|ADD1_ENST00000355842.3_Silent_p.L299L|ADD1_ENST00000398125.1_Silent_p.L299L|ADD1_ENST00000513328.2_Silent_p.L299L|ADD1_ENST00000398123.2_Silent_p.L299L|ADD1_ENST00000446856.1_Silent_p.L299L			P35611	ADDA_HUMAN	adducin 1 (alpha)	299					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCTTATTCTCCGGAACCATG	0.493																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NaN																	0				ovary(1)	1						c.(895-897)CTC>CTG		adducin 1 (alpha) isoform a							151.0	153.0	152.0					4																	2900171		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2900171C>G	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.897C>G	4.37:g.2900171C>G						ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.L299L|ADD1_uc003gfo.2_Silent_p.L299L|ADD1_uc003gfp.2_Silent_p.L299L|ADD1_uc003gfq.2_Silent_p.L299L|ADD1_uc003gfs.2_Silent_p.L299L|ADD1_uc003gft.3_Silent_p.L299L|ADD1_uc003gfu.2_Silent_p.L84L	p.L299L	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	1085	+			299					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.897C>G	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323054	0.24080	.	.	ENSG00000087274	ENST00000514940	.	.	.	5.73	-2.2	0.06994	.	.	.	.	.	T	0.54791	0.1880	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50524	-0.8818	4	.	.	.	-23.6338	9.9196	0.41457	0.1823:0.2273:0.5348:0.0556	.	.	.	.	C	5	.	.	S	+	2	0	ADD1	2869969	0.038000	0.19896	0.980000	0.43619	0.995000	0.86356	-1.043000	0.03535	-0.507000	0.06549	0.650000	0.86243	TCC		0.493	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1		NM_014189		57	94	0	0	0	1	0	57	94		
BLOC1S4	55330	broad.mit.edu	37	4	6718478	6718478	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:6718478C>G	ENST00000320776.3	+	1	637	c.542C>G	c.(541-543)tCg>tGg	p.S181W		NM_018366.2	NP_060836.1	Q9NUP1	BL1S4_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	181					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|platelet aggregation (GO:0070527)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)											AACGTGCCCTCGCTCTTTAGC	0.622																																						uc003gjp.1		NaN																	0					0						c.(541-543)TCG>TGG		cappuccino							37.0	39.0	39.0					4																	6718478		2203	4300	6503	SO:0001583	missense	55330				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol		g.chr4:6718478C>G	BC001818	CCDS3393.1	4p16.1	2012-08-01	2012-08-01	2012-08-01	ENSG00000186222	ENSG00000186222		"""Biogenesis of lysosomal organelles complex-1 subunits"""	24206	protein-coding gene	gene with protein product		605695	"""cappuccino homolog (mouse)"""	CNO		12576321, 11110696	Standard	NM_018366		Approved	FLJ11230, BCAS4L	uc003gjp.1	Q9NUP1	OTTHUMG00000125510	ENST00000320776.3:c.542C>G	4.37:g.6718478C>G	ENSP00000318128:p.Ser181Trp						p.S181W	NM_018366	NP_060836	Q9NUP1	CNO_HUMAN		Colorectal(103;0.0523)	1	637	+			181					Q6NVY6|Q96G84	Missense_Mutation	SNP	ENST00000320776.3	37	c.542C>G	CCDS3393.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057068	0.55325	.	.	ENSG00000186222	ENST00000320776	T	0.49720	0.77	4.65	2.87	0.33458	.	0.396222	0.28166	N	0.016346	T	0.60077	0.2241	M	0.66939	2.045	0.42717	D	0.993664	D	0.76494	0.999	D	0.68765	0.96	T	0.59547	-0.7434	10	0.87932	D	0	-23.7917	6.5546	0.22454	0.0:0.7177:0.1824:0.0999	.	181	Q9NUP1	CNO_HUMAN	W	181	ENSP00000318128:S181W	ENSP00000318128:S181W	S	+	2	0	CNO	6769379	0.915000	0.31059	0.059000	0.19551	0.713000	0.41058	2.163000	0.42377	0.487000	0.27698	-0.258000	0.10820	TCG		0.622	BLOC1S4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246837.1		NM_018366		6	8	0	0	0	1	0	6	8		
NKX3-2	579	broad.mit.edu	37	4	13543785	13543785	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:13543785C>T	ENST00000382438.5	-	2	1469	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	278					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGGCCACCTTCTTGGCGGCGG	0.642																																						uc003gmx.2		NaN																	0					0						c.(832-834)AAG>AAA		NK3 homeobox 2							21.0	21.0	21.0					4																	13543785		2200	4300	6500	SO:0001819	synonymous_variant	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543785C>T	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.834G>A	4.37:g.13543785C>T							p.K278K	NM_001189	NP_001180	P78367	NKX32_HUMAN			2	910	-			278					Q2M2I7	Silent	SNP	ENST00000382438.5	37	c.834G>A	CCDS3410.1																																																																																				0.642	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3				4	11	0	0	0	1	0	4	11		
PI4K2B	55300	broad.mit.edu	37	4	25253958	25253958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:25253958C>A	ENST00000264864.6	+	2	473	c.284C>A	c.(283-285)tCa>tAa	p.S95*	PI4K2B_ENST00000512921.1_5'UTR	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	95					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ATTGGTACTTCAGAGATGAAT	0.383																																						uc003grk.2		NaN																	0				ovary(2)|skin(2)	4						c.(283-285)TCA>TAA		phosphatidylinositol 4-kinase type 2 beta							111.0	109.0	109.0					4																	25253958		2203	4300	6503	SO:0001587	stop_gained	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25253958C>A	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.284C>A	4.37:g.25253958C>A	ENSP00000264864:p.Ser95*					PI4K2B_uc011bxs.1_5'UTR	p.S95*	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN			2	417	+		Breast(46;0.173)	95					Q9NUW2	Nonsense_Mutation	SNP	ENST00000264864.6	37	c.284C>A	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	C	36	5.623859	0.96660	.	.	ENSG00000038210	ENST00000264864;ENST00000537420	.	.	.	5.09	5.09	0.68999	.	0.345111	0.25958	N	0.027211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-8.0122	9.5716	0.39431	0.0:0.7801:0.1424:0.0776	.	.	.	.	X	95;64	.	ENSP00000264864:S95X	S	+	2	0	PI4K2B	24863056	1.000000	0.71417	0.981000	0.43875	0.730000	0.41778	2.850000	0.48294	2.371000	0.80710	0.467000	0.42956	TCA		0.383	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1		NM_018323		19	37	1	0	4.35082e-09	1	4.48012e-09	19	37		
TXK	7294	broad.mit.edu	37	4	48096182	48096182	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:48096182C>T	ENST00000264316.4	-	8	706	c.621G>A	c.(619-621)aaG>aaA	p.K207K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	207	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTGAGTCATTCTTTTTTATCT	0.403																																						uc003gxx.3		NaN																	0					0						c.(619-621)AAG>AAA		TXK tyrosine kinase							140.0	131.0	134.0					4																	48096182		2203	4300	6503	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48096182C>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.621G>A	4.37:g.48096182C>T						TXK_uc003gxy.1_Silent_p.K207K	p.K207K	NM_003328	NP_003319	P42681	TXK_HUMAN			8	707	-			207			SH2.		Q14220	Silent	SNP	ENST00000264316.4	37	c.621G>A	CCDS3480.1																																																																																				0.403	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7		NM_003328		22	48	0	0	0	1	0	22	48		
FRYL	285527	broad.mit.edu	37	4	48517101	48517101	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:48517101C>T	ENST00000503238.1	-	53	7880	c.7881G>A	c.(7879-7881)ctG>ctA	p.L2627L	FRYL_ENST00000537810.1_Silent_p.L2627L|FRYL_ENST00000507873.2_Silent_p.L23L|FRYL_ENST00000358350.4_Silent_p.L2627L|FRYL_ENST00000264319.7_Silent_p.L23L			O94915	FRYL_HUMAN	FRY-like	2627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTAGCTCTTTCAGAGCTAAGG	0.428																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(7879-7881)CTG>CTA		furry-like							152.0	139.0	143.0					4																	48517101		1868	4105	5973	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48517101C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7881G>A	4.37:g.48517101C>T						FRYL_uc003gyf.1_Silent_p.L23L|FRYL_uc003gyg.1_Silent_p.L1323L|FRYL_uc003gyi.1_Silent_p.L1515L	p.L2627L	NM_015030	NP_055845	O94915	FRYL_HUMAN			56	8486	-			2627					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.7881G>A	CCDS43227.1																																																																																				0.428	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				38	69	0	0	0	1	0	38	69		
CWH43	80157	broad.mit.edu	37	4	49052780	49052780	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:49052780C>T	ENST00000226432.4	+	15	2118	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	CWH43_ENST00000513409.1_Silent_p.I618I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	645					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATTTAGGATCCCTGATGACC	0.393																																						uc003gyv.2		NaN																	0				skin(2)|ovary(1)	3						c.(1933-1935)ATC>ATT		cell wall biogenesis 43 C-terminal homolog							82.0	82.0	82.0					4																	49052780		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49052780C>T		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1935C>T	4.37:g.49052780C>T						CWH43_uc011bzl.1_Silent_p.I618I	p.I645I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			15	2117	+			645					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1935C>T	CCDS3486.1																																																																																				0.393	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2		NM_025087		22	41	0	0	0	1	0	22	41		
SCFD2	152579	broad.mit.edu	37	4	53786903	53786903	+	Missense_Mutation	SNP	G	G	T	rs188041296		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:53786903G>T	ENST00000401642.3	-	6	1829	c.1696C>A	c.(1696-1698)Cat>Aat	p.H566N	SCFD2_ENST00000388940.4_Missense_Mutation_p.H566N	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	566					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGTGGGTATGATTTCCAGGA	0.393																																						uc003gzu.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1696-1698)CAT>AAT		sec1 family domain containing 2							91.0	95.0	94.0					4																	53786903		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53786903G>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1696C>A	4.37:g.53786903G>T	ENSP00000384182:p.His566Asn					SCFD2_uc010igm.2_Missense_Mutation_p.H566N	p.H566N	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		6	1830	-			566					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1696C>A	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.444304	0.01089	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.79352	-0.96;-1.26	4.96	4.09	0.47781	.	0.524137	0.21622	N	0.071639	T	0.59851	0.2224	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.46219	-0.9207	10	0.25751	T	0.34	.	10.4171	0.44329	0.0:0.0:0.7971:0.2029	.	566;566	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	N	566	ENSP00000384182:H566N;ENSP00000373592:H566N	ENSP00000373592:H566N	H	-	1	0	SCFD2	53481660	0.373000	0.25073	0.013000	0.15412	0.761000	0.43186	1.674000	0.37544	1.387000	0.46486	0.561000	0.74099	CAT		0.393	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3		NM_152540		25	33	1	0	1.1804e-14	1	1.23272e-14	25	33		
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T	rs201126543		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:54374161C>T	ENST00000263925.7	-	3	928	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	LNX1_ENST00000306888.2_Missense_Mutation_p.R109Q|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|LNX1-AS1_ENST00000514364.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	205	Interaction with MAGEB18.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552																																						uc003hag.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(2)	4						c.(613-615)CGA>CAA		ligand of numb-protein X 1 isoform a							30.0	27.0	28.0					4																	54374161		2201	4299	6500	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54374161C>T	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.614G>A	4.37:g.54374161C>T	ENSP00000263925:p.Arg205Gln					PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.R109Q|LNX1_uc003hah.3_Intron	p.R205Q	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		3	870	-	all_neural(26;0.153)		205					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.614G>A	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100746	0.37048	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.08008	3.14;4.6	5.31	2.61	0.31194	.	0.373061	0.30329	N	0.009870	T	0.03827	0.0108	L	0.32530	0.975	0.34287	D	0.682783	P;B	0.34934	0.476;0.09	B;B	0.17433	0.018;0.01	T	0.42649	-0.9439	10	0.10377	T	0.69	.	4.0475	0.09779	0.1328:0.5959:0.1284:0.1429	.	205;109	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	Q	109;43;205	ENSP00000302879:R109Q;ENSP00000263925:R205Q	ENSP00000263925:R205Q	R	-	2	0	LNX1	54068918	0.054000	0.20591	0.718000	0.30602	0.437000	0.31866	0.114000	0.15520	0.231000	0.21079	0.555000	0.69702	CGA		0.552	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2				6	21	0	0	0	1	0	6	21		
KIAA1211	57482	broad.mit.edu	37	4	57173841	57173841	+	Silent	SNP	C	C	T	rs202102457		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:57173841C>T	ENST00000504228.1	+	3	366	c.261C>T	c.(259-261)atC>atT	p.I87I	KIAA1211_ENST00000264229.6_Silent_p.I87I|KIAA1211_ENST00000541073.1_Silent_p.I80I			Q6ZU35	K1211_HUMAN	KIAA1211	87										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGGACATCGTCCTCTCAG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		21584	0.0		0.001	False		,,,				2504	0.0					uc003hbk.2		NaN																	0				ovary(1)|skin(1)	2						c.(259-261)ATC>ATT		hypothetical protein LOC57482		C		0,3964		0,0,1982	77.0	77.0	77.0		261	-3.1	0.0	4		77	1,8331		0,1,4165	no	coding-synonymous	KIAA1211	NM_020722.1		0,1,6147	TT,TC,CC		0.012,0.0,0.0081		87/1234	57173841	1,12295	1982	4166	6148	SO:0001819	synonymous_variant	57482							g.chr4:57173841C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.261C>T	4.37:g.57173841C>T						KIAA1211_uc010iha.2_Silent_p.I80I|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank	p.I87I	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			5	652	+	Glioma(25;0.08)|all_neural(26;0.101)		87					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.261C>T	CCDS43230.1																																																																																				0.517	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2		NM_020722		16	28	0	0	0	1	0	16	28		
TECRL	253017	broad.mit.edu	37	4	65194231	65194231	+	Splice_Site	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:65194231A>G	ENST00000381210.3	-	3	440	c.330T>C	c.(328-330)tgT>tgC	p.C110C	TECRL_ENST00000507440.1_Splice_Site_p.C110C	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	110					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GCTTCTTACCACATTCTAGCT	0.299																																						uc003hcv.2		NaN																	0					0						c.(328-330)TGT>TGC		steroid 5 alpha-reductase 2-like 2							80.0	80.0	80.0					4																	65194231		2202	4298	6500	SO:0001630	splice_region_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65194231A>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.331+1T>C	4.37:g.65194231A>G						TECRL_uc003hcw.2_Silent_p.C110C	p.C110C	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			3	439	-			110						Silent	SNP	ENST00000381210.3	37	c.330T>C	CCDS33990.1																																																																																				0.299	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4		NM_001010874	Silent	19	40	0	0	0	1	0	19	40		
ALB	213	broad.mit.edu	37	4	74277802	74277802	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:74277802A>T	ENST00000503124.1	+	5	560	c.353A>T	c.(352-354)gAa>gTa	p.E118V	ALB_ENST00000295897.4_Missense_Mutation_p.E268V|ALB_ENST00000401494.3_Missense_Mutation_p.E153V|ALB_ENST00000415165.2_Missense_Mutation_p.E76V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.E268V			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCACACGGAATGCTGCCAT	0.458																																						uc003hgs.3		NaN																	0				ovary(3)|skin(3)	6						c.(802-804)GAA>GTA		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						204.0	184.0	191.0					4																	74277802		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74277802A>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.353A>T	4.37:g.74277802A>T	ENSP00000421027:p.Glu118Val					ALB_uc003hgw.3_Missense_Mutation_p.E76V|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.E268V|ALB_uc010iii.2_Missense_Mutation_p.E153V|ALB_uc003hgu.3_Missense_Mutation_p.E118V|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.E158V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	p.E268V	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	876	+	Breast(15;0.00102)		268			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.803A>T		.	.	.	.	.	.	.	.	.	.	A	23.2	4.385871	0.82902	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	6.02	6.02	0.97574	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.109676	0.64402	D	0.000010	D	0.88570	0.6472	M	0.89904	3.07	0.51767	D	0.999939	D;D;D;D;D	0.76494	0.999;0.991;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.984;0.966;0.991;0.99;0.995	D	0.90713	0.4629	10	0.87932	D	0	-42.9847	15.3687	0.74545	1.0:0.0:0.0:0.0	.	153;76;118;268;268	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	V	268;76;118;268;153;277	ENSP00000295897:E268V;ENSP00000401820:E76V;ENSP00000421027:E118V;ENSP00000422784:E268V;ENSP00000384695:E153V	ENSP00000295897:E268V	E	+	2	0	ALB	74496666	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	4.001000	0.57046	2.311000	0.77944	0.533000	0.62120	GAA		0.458	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1		NM_000477		32	62	0	0	0	1	0	32	62		
RASSF6	166824	broad.mit.edu	37	4	74453627	74453627	+	Silent	SNP	G	G	A	rs564196327		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:74453627G>A	ENST00000342081.3	-	5	538	c.408C>T	c.(406-408)gaC>gaT	p.D136D	RASSF6_ENST00000307439.5_Silent_p.D104D|RASSF6_ENST00000395777.2_Silent_p.D104D|RASSF6_ENST00000335049.5_Silent_p.D92D	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	136					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATAGAGATCGTCAAATTCCC	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		12755	0.0		0.0	False		,,,				2504	0.001					uc003hhd.1		NaN																	0				pancreas(2)	2						c.(406-408)GAC>GAT		Ras association (RalGDS/AF-6) domain family 6							94.0	95.0	95.0					4																	74453627		2202	4300	6502	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74453627G>A	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.408C>T	4.37:g.74453627G>A						RASSF6_uc003hhc.1_Silent_p.D104D|RASSF6_uc010iik.1_Silent_p.D104D|RASSF6_uc010iil.1_Silent_p.D92D	p.D136D	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		5	531	-	Breast(15;0.00102)		136					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.408C>T	CCDS3558.1																																																																																				0.383	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1		NM_177532		19	42	0	0	0	1	0	19	42		
SOWAHB	345079	broad.mit.edu	37	4	77818388	77818388	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:77818388C>T	ENST00000334306.2	-	1	614	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	205	Ala-rich.																GCAGTACAGCCAGGTTGTTCT	0.731																																						uc003hki.2		NaN																	0					0						c.(613-615)CTG>CTA		ankyrin repeat domain 56							7.0	8.0	7.0					4																	77818388		2166	4229	6395	SO:0001819	synonymous_variant	345079							g.chr4:77818388C>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.615G>A	4.37:g.77818388C>T							p.L205L	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	615	-			205			Ala-rich.		B2RP29	Silent	SNP	ENST00000334306.2	37	c.615G>A	CCDS34017.1																																																																																				0.731	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1		NM_001029870		4	4	0	0	0	1	0	4	4		
FRAS1	80144	broad.mit.edu	37	4	79434557	79434557	+	Missense_Mutation	SNP	C	C	T	rs375437443		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:79434557C>T	ENST00000264895.6	+	65	10465	c.10025C>T	c.(10024-10026)tCg>tTg	p.S3342L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3338					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCCACATTTCGGTGCAGATC	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24173	0.0		0.0	False		,,,				2504	0.0					uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(10024-10026)TCG>TTG		Fraser syndrome 1		C	LEU/SER	1,3837		0,1,1918	151.0	143.0	145.0		10025	5.7	0.7	4		145	0,8278		0,0,4139	no	missense	FRAS1	NM_025074.6	145	0,1,6057	TT,TC,CC		0.0,0.0261,0.0083	probably-damaging	3342/4013	79434557	1,12115	1919	4139	6058	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79434557C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10025C>T	4.37:g.79434557C>T	ENSP00000264895:p.Ser3342Leu						p.S3342L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			65	10465	+			3337			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10025C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152809	0.94645	2.61E-4	0.0	ENSG00000138759	ENST00000264895	T	0.13307	2.6	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.04708	-1.0932	10	0.87932	D	0	.	19.8365	0.96659	0.0:1.0:0.0:0.0	.	3342	E9PHH6	.	L	3342	ENSP00000264895:S3342L	ENSP00000264895:S3342L	S	+	2	0	FRAS1	79653581	1.000000	0.71417	0.690000	0.30148	0.966000	0.64601	7.709000	0.84645	2.694000	0.91930	0.467000	0.42956	TCG		0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					46	61	0	0	0	1	0	46	61		
FGF5	2250	broad.mit.edu	37	4	81207685	81207685	+	Silent	SNP	G	G	A	rs3733335		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:81207685G>A	ENST00000312465.7	+	3	892	c.666G>A	c.(664-666)tcG>tcA	p.S222S	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	222					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TCAAGCAGTCGGAGCAGCCAG	0.478																																						uc003hmd.2		NaN																	0				ovary(1)|breast(1)	2						c.(664-666)TCG>TCA		fibroblast growth factor 5 isoform 1 precursor							74.0	76.0	75.0					4																	81207685		2203	4300	6503	SO:0001819	synonymous_variant	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207685G>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.666G>A	4.37:g.81207685G>A						FGF5_uc003hme.2_3'UTR	p.S222S	NM_004464	NP_004455	P12034	FGF5_HUMAN			3	903	+			222					B2R554|O75846|Q3Y8M3|Q8NF90	Silent	SNP	ENST00000312465.7	37	c.666G>A	CCDS34021.1																																																																																				0.478	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2				45	52	0	0	0	1	0	45	52		
HELQ	113510	broad.mit.edu	37	4	84350762	84350762	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:84350762G>A	ENST00000295488.3	-	12	2595	c.2433C>T	c.(2431-2433)ctC>ctT	p.L811L	HELQ_ENST00000510985.1_Silent_p.L744L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	811					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTTTTGTAGGAGTCCTTTTT	0.328								Other identified genes with known or suspected DNA repair function																														uc003hom.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(2431-2433)CTC>CTT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							85.0	82.0	83.0					4																	84350762		2202	4298	6500	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84350762G>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2433C>T	4.37:g.84350762G>A						HELQ_uc010ikb.2_Silent_p.L744L|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.L811L	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			12	2612	-			811					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.2433C>T	CCDS3603.1																																																																																				0.328	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1		NM_133636		20	32	0	0	0	1	0	20	32		
C4orf33	132321	broad.mit.edu	37	4	130023826	130023826	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:130023826A>G	ENST00000281146.5	+	2	782	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	C4orf33_ENST00000502887.1_Missense_Mutation_p.I21V|C4orf33_ENST00000425929.1_Missense_Mutation_p.I21V	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	21										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GCCCGTATTTATCAGGCTGAA	0.408																																						uc003igu.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(61-63)ATC>GTC		hypothetical protein LOC132321							123.0	119.0	121.0					4																	130023826		2203	4300	6503	SO:0001583	missense	132321							g.chr4:130023826A>G	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.61A>G	4.37:g.130023826A>G	ENSP00000281146:p.Ile21Val					C4orf33_uc010ioc.1_Missense_Mutation_p.I21V|C4orf33_uc010iod.2_Missense_Mutation_p.I21V	p.I21V	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN			2	425	+			21					D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	c.61A>G	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	A	0.047	-1.263003	0.01445	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929;ENST00000508673;ENST00000508622	T;T;T;T;T	0.50277	2.19;1.86;2.19;0.85;0.75	4.59	0.756	0.18421	.	0.232500	0.42821	N	0.000642	T	0.24236	0.0587	N	0.24115	0.695	0.25024	N	0.991311	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11227	-1.0596	10	0.14252	T	0.57	0.9189	3.8708	0.09036	0.4396:0.1807:0.3797:0.0	.	21;21	D6RIT3;Q8N1A6	.;CD033_HUMAN	V	21	ENSP00000281146:I21V;ENSP00000427406:I21V;ENSP00000401090:I21V;ENSP00000427096:I21V;ENSP00000427431:I21V	ENSP00000281146:I21V	I	+	1	0	C4orf33	130243276	0.832000	0.29368	0.072000	0.20136	0.043000	0.13939	1.498000	0.35660	0.221000	0.20879	-0.242000	0.12053	ATC		0.408	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2		NM_173487		33	80	0	0	0	1	0	33	80		
ASIC5	51802	broad.mit.edu	37	4	156784856	156784856	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:156784856G>C	ENST00000537611.2	-	2	137	c.91C>G	c.(91-93)Ccc>Gcc	p.P31A	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	31					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										CGCTCAGTGGGAGATGGCAGT	0.388																																						uc003ipe.1		NaN																	0				ovary(2)|skin(1)	3						c.(91-93)CCC>GCC		amiloride-sensitive cation channel 5,							110.0	110.0	110.0					4																	156784856		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156784856G>C	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.91C>G	4.37:g.156784856G>C	ENSP00000442477:p.Pro31Ala						p.P31A	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	2	138	-	all_hematologic(180;0.24)	Renal(120;0.0458)	31			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.91C>G	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553901	0.03996	.	.	ENSG00000256394	ENST00000537611	T	0.65916	-0.18	4.34	1.5	0.22942	.	0.461649	0.19734	N	0.107282	T	0.47154	0.1430	M	0.65975	2.015	0.58432	D	0.999998	B	0.24132	0.098	B	0.18263	0.021	T	0.30592	-0.9973	10	0.06099	T	0.92	-16.1835	3.1483	0.06479	0.1042:0.1433:0.4606:0.2919	.	31	Q9NY37	ACCN5_HUMAN	A	31	ENSP00000442477:P31A	ENSP00000264432:P31A	P	-	1	0	ACCN5	157004306	0.220000	0.23631	0.583000	0.28640	0.064000	0.16182	0.259000	0.18405	0.147000	0.19030	-0.188000	0.12872	CCC		0.388	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1				52	47	0	0	0	1	0	52	47		
MARCH1	55016	broad.mit.edu	37	4	165118255	165118255	+	Intron	SNP	G	G	A	rs537870223		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:165118255G>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				catcctcctcgtcccctccac	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17287	0.0		0.0	False		,,,				2504	0.0					uc011cjk.1		NaN																	0					0						c.(607-609)GAC>GAT		acidic nuclear phosphoprotein 32C							221.0	172.0	188.0					4																	165118255		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118255G>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85441C>T	4.37:g.165118255G>A						MARCH1_uc003iqs.1_Intron	p.D203D	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	609	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	203			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.609C>T	CCDS54814.1																																																																																				0.512	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2		NM_017923		4	11	0	0	0	1	0	4	11		
TENM3	55714	broad.mit.edu	37	4	183267920	183267920	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:183267920G>A	ENST00000511685.1	+	3	472	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TENM3_ENST00000406950.2_Missense_Mutation_p.D117N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	117	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGCAGGGTCAGATGCTGATAC	0.532																																						uc003ivd.1		NaN																	0					0						c.(349-351)GAT>AAT		odz, odd Oz/ten-m homolog 3							52.0	53.0	53.0					4																	183267920		1974	4149	6123	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183267920G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.349G>A	4.37:g.183267920G>A	ENSP00000424226:p.Asp117Asn					ODZ3_uc010irv.1_Missense_Mutation_p.D117N	p.D117N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	2	386	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	117			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.349G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822804	0.90873	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.46063	0.88;0.88;0.88	5.15	5.15	0.70609	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.64438	0.2598	M	0.66939	2.045	0.44694	D	0.997682	B;D	0.69078	0.089;0.997	B;D	0.77004	0.104;0.989	T	0.65307	-0.6200	9	0.56958	D	0.05	.	18.8123	0.92063	0.0:0.0:1.0:0.0	.	117;117	D6RGC5;Q9P273	.;TEN3_HUMAN	N	117	ENSP00000421320:D117N;ENSP00000424226:D117N;ENSP00000385276:D117N	ENSP00000385276:D117N	D	+	1	0	ODZ3	183504914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.681000	0.91329	0.563000	0.77884	GAT		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				4	6	0	0	0	1	0	4	6		
ZNF622	90441	broad.mit.edu	37	5	16458679	16458679	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:16458679G>A	ENST00000308683.2	-	4	1235	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	370					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GTTCTTTTCTGAGGGCAACTC	0.393																																						uc003jfq.2		NaN																	0				ovary(1)	1						c.(1108-1110)TCA>TTA		zinc finger protein 622							135.0	133.0	134.0					5																	16458679		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16458679G>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1109C>T	5.37:g.16458679G>A	ENSP00000310042:p.Ser370Leu						p.S370L	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			4	1229	-			370						Missense_Mutation	SNP	ENST00000308683.2	37	c.1109C>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111945	0.20714	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	3.91	0.45181	.	0.301266	0.36338	N	0.002652	T	0.35828	0.0945	L	0.32530	0.975	0.25844	N	0.984021	B	0.09022	0.002	B	0.06405	0.002	T	0.18999	-1.0319	9	0.30854	T	0.27	-5.0E-4	12.6065	0.56527	0.1362:0.0:0.8638:0.0	.	370	Q969S3	ZN622_HUMAN	L	370	.	ENSP00000310042:S370L	S	-	2	0	ZNF622	16511679	0.698000	0.27777	0.650000	0.29550	0.096000	0.18686	3.610000	0.54125	1.421000	0.47157	-0.145000	0.13849	TCA		0.393	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1		NM_033414		14	48	0	0	0	1	0	14	48		
LIFR	3977	broad.mit.edu	37	5	38481864	38481864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:38481864C>T	ENST00000263409.4	-	20	3289	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	LIFR_ENST00000453190.2_Missense_Mutation_p.D1043N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1043					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTAGGAGAGTCTGGAGACACT	0.403			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NaN		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(3127-3129)GAC>AAC		leukemia inhibitory factor receptor precursor							146.0	137.0	140.0					5																	38481864		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38481864C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3127G>A	5.37:g.38481864C>T	ENSP00000263409:p.Asp1043Asn					LIFR_uc003jli.2_Missense_Mutation_p.D1043N	p.D1043N	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			20	3459	-	all_lung(31;0.00021)		1043			Cytoplasmic (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.3127G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984505	0.93044	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.57273	0.41;0.41	5.94	5.94	0.96194	.	0.194244	0.48767	D	0.000180	T	0.71863	0.3390	L	0.57536	1.79	0.50171	D	0.999857	D	0.89917	1.0	D	0.83275	0.996	T	0.71686	-0.4518	10	0.72032	D	0.01	-21.4069	20.3552	0.98837	0.0:1.0:0.0:0.0	.	1043	P42702	LIFR_HUMAN	N	1043	ENSP00000263409:D1043N;ENSP00000398368:D1043N	ENSP00000263409:D1043N	D	-	1	0	LIFR	38517621	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	5.114000	0.64648	2.812000	0.96745	0.557000	0.71058	GAC		0.403	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1		NM_002310		49	89	0	0	0	1	0	49	89		
TTC33	23548	broad.mit.edu	37	5	40716332	40716332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:40716332G>A	ENST00000337702.4	-	5	856	c.704C>T	c.(703-705)tCt>tTt	p.S235F	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	235										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCCAGAAGCAGACACAATAAC	0.428																																						uc003jma.2		NaN																	0				ovary(1)	1						c.(703-705)TCT>TTT		tetratricopeptide repeat domain 33							105.0	90.0	95.0					5																	40716332		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40716332G>A	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.704C>T	5.37:g.40716332G>A	ENSP00000338533:p.Ser235Phe					TTC33_uc011cpm.1_Missense_Mutation_p.S127F|TTC33_uc010ivg.2_3'UTR	p.S235F	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN			5	852	-			235					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.704C>T	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778859	0.49891	.	.	ENSG00000113638	ENST00000337702	T	0.35048	1.33	5.23	5.23	0.72850	.	0.104917	0.64402	D	0.000004	T	0.56572	0.1994	L	0.56769	1.78	0.48762	D	0.999703	D	0.69078	0.997	D	0.63597	0.916	T	0.59804	-0.7385	10	0.87932	D	0	-12.0965	18.8028	0.92025	0.0:0.0:1.0:0.0	.	235	Q6PID6	TTC33_HUMAN	F	235	ENSP00000338533:S235F	ENSP00000338533:S235F	S	-	2	0	TTC33	40752089	1.000000	0.71417	0.895000	0.35142	0.405000	0.30901	5.593000	0.67550	2.428000	0.82296	0.650000	0.86243	TCT		0.428	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1		NM_012382		24	42	0	0	0	1	0	24	42		
PELO	53918	broad.mit.edu	37	5	52096666	52096666	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:52096666C>T	ENST00000274311.2	+	2	1423	c.438C>T	c.(436-438)ctC>ctT	p.L146L	ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	146					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGAAGGCCTCGCCCATATCT	0.582																																						uc003jos.2		NaN																	0					0						c.(436-438)CTC>CTT		pelota homolog							53.0	50.0	51.0					5																	52096666		2203	4300	6503	SO:0001819	synonymous_variant	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096666C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.438C>T	5.37:g.52096666C>T						ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	p.L146L	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN			2	1423	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	146					Q9GZS6|Q9Y306	Silent	SNP	ENST00000274311.2	37	c.438C>T	CCDS3956.1																																																																																				0.582	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1		NM_015946		21	24	0	0	0	1	0	21	24		
SLC38A9	153129	broad.mit.edu	37	5	54929659	54929659	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:54929659C>T	ENST00000396865.2	-	14	1944	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	SLC38A9_ENST00000512595.1_Missense_Mutation_p.M388I|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000318672.3_Missense_Mutation_p.M451I|SLC38A9_ENST00000515629.1_Missense_Mutation_p.M388I|SLC38A9_ENST00000416547.2_Missense_Mutation_p.M327I	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	451					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATACAGTCATCATCTGGAACA	0.448																																						uc003jqf.2		NaN																	0					0						c.(1351-1353)ATG>ATA		solute carrier family 38, member 9							130.0	113.0	119.0					5																	54929659		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929659C>T		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1353G>A	5.37:g.54929659C>T	ENSP00000380074:p.Met451Ile					SLC38A9_uc003jqd.2_Missense_Mutation_p.M388I|SLC38A9_uc010ivx.2_Missense_Mutation_p.M388I|SLC38A9_uc003jqe.2_Intron|SLC38A9_uc010ivy.2_Missense_Mutation_p.M322I	p.M451I	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			14	1554	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	451			Helical; (Potential).		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.1353G>A	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664167	0.67700	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233	T;T;T;T;T;T	0.31769	4.5;4.5;4.5;4.5;4.5;1.48	5.42	5.42	0.78866	.	0.037947	0.85682	D	0.000000	T	0.32164	0.0820	L	0.54323	1.7	0.80722	D	1	B;P	0.34462	0.304;0.454	B;B	0.31016	0.068;0.123	T	0.06180	-1.0841	10	0.34782	T	0.22	-9.7303	19.2225	0.93803	0.0:1.0:0.0:0.0	.	388;451	B3KXV1;Q8NBW4	.;S38A9_HUMAN	I	451;451;388;327;388;366	ENSP00000380074:M451I;ENSP00000316596:M451I;ENSP00000420934:M388I;ENSP00000397429:M327I;ENSP00000427335:M388I;ENSP00000423219:M366I	ENSP00000316596:M451I	M	-	3	0	SLC38A9	54965416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.878000	0.63093	2.519000	0.84933	0.655000	0.94253	ATG		0.448	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2		NM_173514		15	25	0	0	0	1	0	15	25		
CMYA5	202333	broad.mit.edu	37	5	79025761	79025761	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:79025761G>A	ENST00000446378.2	+	2	1204	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	391					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTATGTTCCTGAGAACAACAA	0.468																																						uc003kgc.2		NaN																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(1171-1173)CTG>CTA		cardiomyopathy associated 5							81.0	81.0	81.0					5																	79025761		2164	4280	6444	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79025761G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1173G>A	5.37:g.79025761G>A							p.L391L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1245	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	391					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.1173G>A	CCDS47238.1																																																																																				0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1		NM_153610		16	9	0	0	0	1	0	16	9		
SRP19	6728	broad.mit.edu	37	5	112200214	112200214	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:112200214G>A	ENST00000505459.1	+	3	333	c.178G>A	c.(178-180)Gta>Ata	p.V60I	CTC-487M23.8_ENST00000506997.1_3'UTR|SRP19_ENST00000515463.1_Silent_p.T34T|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.V60I	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	60					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TGGACTTAACGTATTTCTTGA	0.323																																						uc003kqc.2		NaN																	0					0						c.(178-180)GTA>ATA		signal recognition particle 19kDa							179.0	172.0	175.0					5																	112200214		2202	4300	6502	SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112200214G>A		CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"""signal recognition particle 19kD"""			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.178G>A	5.37:g.112200214G>A	ENSP00000424870:p.Val60Ile					SRP19_uc003kqb.1_Missense_Mutation_p.V60I|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_Silent_p.T9T	p.V60I	NM_003135	NP_003126	P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	3	259	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	60					B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	37	c.178G>A	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178638	0.57692	.	.	ENSG00000153037	ENST00000505459;ENST00000282999	T;T	0.46819	0.86;0.88	5.91	5.91	0.95273	.	0.304933	0.35291	N	0.003319	T	0.36524	0.0970	.	.	.	0.80722	D	1	B;B	0.30439	0.279;0.001	B;B	0.23150	0.044;0.002	T	0.10064	-1.0646	9	0.22109	T	0.4	-3.2855	18.0741	0.89422	0.0:0.0:1.0:0.0	.	60;60	P09132;Q05D77	SRP19_HUMAN;.	I	60	ENSP00000424870:V60I;ENSP00000282999:V60I	ENSP00000282999:V60I	V	+	1	0	SRP19	112228113	1.000000	0.71417	0.864000	0.33941	0.943000	0.58893	7.793000	0.85851	2.809000	0.96659	0.555000	0.69702	GTA		0.323	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3		NM_003135		20	21	0	0	0	1	0	20	21		
DTWD2	285605	broad.mit.edu	37	5	118274974	118274974	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:118274974C>T	ENST00000510708.1	-	3	354	c.321G>A	c.(319-321)gtG>gtA	p.V107V	DTWD2_ENST00000515439.3_Intron|DTWD2_ENST00000304058.4_Silent_p.V41V	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	107										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTGTACGCAACACTTTGTTTT	0.333																																						uc003ksa.2		NaN																	0					0						c.(319-321)GTG>GTA		DTW domain containing 2							77.0	72.0	74.0					5																	118274974		2202	4300	6502	SO:0001819	synonymous_variant	285605							g.chr5:118274974C>T		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.321G>A	5.37:g.118274974C>T							p.V107V	NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	3	355	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	107						Silent	SNP	ENST00000510708.1	37	c.321G>A	CCDS34216.1																																																																																				0.333	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2		NM_173666		11	4	0	0	0	1	0	11	4		
LMNB1	4001	broad.mit.edu	37	5	126113516	126113516	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:126113516G>A	ENST00000261366.5	+	1	677	c.316G>A	c.(316-318)Gag>Aag	p.E106K	LMNB1_ENST00000395354.1_Missense_Mutation_p.E106K|RP11-434D11.4_ENST00000509185.2_lincRNA|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	106	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GCTGCAGATCGAGCTGGGCAA	0.711																																						uc003kud.1		NaN																	0				kidney(1)|central_nervous_system(1)	2						c.(316-318)GAG>AAG		lamin B1							3.0	4.0	4.0					5																	126113516		1935	3852	5787	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126113516G>A	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.316G>A	5.37:g.126113516G>A	ENSP00000261366:p.Glu106Lys					LMNB1_uc003kuc.2_Missense_Mutation_p.E106K|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Intron	p.E106K	NM_005573	NP_005564	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	1	684	+		all_cancers(142;0.103)|Prostate(80;0.081)	106			Coil 1B.|Rod.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.316G>A	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964325	0.74131	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.90324	-2.65;-2.65	1.85	1.85	0.25348	Filament (1);	0.000000	0.64402	U	0.000002	D	0.92625	0.7657	M	0.83384	2.64	0.80722	D	1	P	0.40000	0.698	P	0.49561	0.615	D	0.92046	0.5644	10	0.40728	T	0.16	.	12.6968	0.57008	0.0:0.0:1.0:0.0	.	106	P20700	LMNB1_HUMAN	K	106	ENSP00000261366:E106K;ENSP00000378761:E106K	ENSP00000261366:E106K	E	+	1	0	LMNB1	126141415	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.095000	0.76952	1.342000	0.45619	0.313000	0.20887	GAG		0.711	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2		NM_005573		2	0	0	0	0	1	0	2	0		
FBN2	2201	broad.mit.edu	37	5	127685049	127685049	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:127685049A>G	ENST00000508053.1	-	29	3953	c.2979T>C	c.(2977-2979)cgT>cgC	p.R993R	FBN2_ENST00000508989.1_Silent_p.R960R|FBN2_ENST00000262464.4_Silent_p.R993R			P35556	FBN2_HUMAN	fibrillin 2	993	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAAACATACACGGCCAGTCC	0.453																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2977-2979)CGT>CGC		fibrillin 2 precursor							105.0	89.0	94.0					5																	127685049		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127685049A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2979T>C	5.37:g.127685049A>G						FBN2_uc003kuv.2_Silent_p.R960R	p.R993R	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	23	3418	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	993			EGF-like 14; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.2979T>C	CCDS34222.1																																																																																				0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		8	6	0	0	0	1	0	8	6		
SPINK5	11005	broad.mit.edu	37	5	147449958	147449958	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:147449958C>G	ENST00000256084.7	+	3	196	c.154C>G	c.(154-156)Caa>Gaa	p.Q52E	SPINK5_ENST00000359874.3_Missense_Mutation_p.Q52E|SPINK5_ENST00000398454.1_Missense_Mutation_p.Q52E	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	52	Kazal-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTTTTTCAAAGTCTTGA	0.328																																						uc003lox.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(154-156)CAA>GAA		serine peptidase inhibitor, Kazal type 5 isoform							73.0	72.0	72.0					5																	147449958		1821	4070	5891	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147449958C>G	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.154C>G	5.37:g.147449958C>G	ENSP00000256084:p.Gln52Glu					SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.Q24E|SPINK5_uc010jgr.2_Missense_Mutation_p.Q33E|SPINK5_uc003low.2_Missense_Mutation_p.Q52E|SPINK5_uc003loy.2_Missense_Mutation_p.Q52E	p.Q52E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	227	+			52			Kazal-like 1; atypical.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.154C>G	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	0.821	-0.748701	0.03065	.	.	ENSG00000133710	ENST00000521206;ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.33	2.4	0.29515	.	0.343469	0.21407	N	0.075044	T	0.06554	0.0168	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.002	B;B;B;B	0.14578	0.003;0.009;0.004;0.011	T	0.28332	-1.0047	10	0.56958	D	0.05	-7.3071	13.5127	0.61522	0.0:0.5421:0.4579:0.0	.	33;52;52;52	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	E	33;52;52;33;52	ENSP00000430264:Q33E;ENSP00000381472:Q52E;ENSP00000352936:Q52E;ENSP00000421519:Q33E;ENSP00000256084:Q52E	ENSP00000256084:Q52E	Q	+	1	0	SPINK5	147430151	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.156000	0.16382	0.383000	0.24910	0.650000	0.86243	CAA		0.328	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2		NM_001127698		28	22	0	0	0	1	0	28	22		
SPINK5	11005	broad.mit.edu	37	5	147499895	147499895	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:147499895G>A	ENST00000256084.7	+	26	2521	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	SPINK5_ENST00000359874.3_Missense_Mutation_p.E827K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E827K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	827	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGAGGATGAAGACAGGAG	0.393																																						uc003lox.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(2479-2481)GAA>AAA		serine peptidase inhibitor, Kazal type 5 isoform							165.0	166.0	165.0					5																	147499895		1868	4102	5970	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147499895G>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2479G>A	5.37:g.147499895G>A	ENSP00000256084:p.Glu827Lys					SPINK5_uc010jgr.2_Missense_Mutation_p.E808K|SPINK5_uc003low.2_Missense_Mutation_p.E827K|SPINK5_uc003loy.2_Missense_Mutation_p.E827K	p.E827K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	2552	+			827			Kazal-like 12.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2479G>A	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719283	0.48728	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.42131	1.03;0.98;1.08;0.98	4.28	3.33	0.38152	Proteinase inhibitor I1, Kazal (1);	1.123620	0.06646	N	0.761906	T	0.36193	0.0958	L	0.53671	1.685	0.09310	N	1	B;B;B;B	0.25169	0.01;0.082;0.119;0.017	B;B;B;B	0.29267	0.042;0.037;0.1;0.06	T	0.40664	-0.9551	10	0.06236	T	0.91	-0.6563	7.1904	0.25822	0.134:0.0:0.866:0.0	.	808;827;827;827	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	K	827;827;808;827	ENSP00000381472:E827K;ENSP00000352936:E827K;ENSP00000421519:E808K;ENSP00000256084:E827K	ENSP00000256084:E827K	E	+	1	0	SPINK5	147480088	0.006000	0.16342	0.012000	0.15200	0.279000	0.26890	0.886000	0.28241	1.265000	0.44215	0.557000	0.71058	GAA		0.393	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2		NM_001127698		7	7	0	0	0	1	0	7	7		
CSNK1A1	1452	broad.mit.edu	37	5	148930407	148930407	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:148930407C>T	ENST00000377843.2	-	1	600	c.121G>A	c.(121-123)Gag>Aag	p.E41K	CSNK1A1_ENST00000261798.5_Missense_Mutation_p.E41K|CSNK1A1_ENST00000515435.1_5'Flank|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.E41K|CSNK1A1_ENST00000504676.1_5'Flank|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.E41K	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E41*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATGATTACCTCGCCGTTGGTG	0.547																																					Colon(5;64 69 1309 10383)	uc003lqx.1		NaN																	2	Substitution - Nonsense(2)		lung(2)	breast(1)	1						c.(121-123)GAG>AAG		casein kinase 1, alpha 1 isoform 2							76.0	86.0	83.0					5																	148930407		2111	4253	6364	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity	g.chr5:148930407C>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.121G>A	5.37:g.148930407C>T	ENSP00000367074:p.Glu41Lys					CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Missense_Mutation_p.E41K|CSNK1A1_uc003lqy.1_Missense_Mutation_p.E41K|CSNK1A1_uc010jha.1_Missense_Mutation_p.E41K	p.E41K	NM_001892	NP_001883	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	1	601	-			41			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.121G>A	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856467	0.91355	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768;ENST00000515748	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.08	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.64371	0.2592	M	0.71036	2.16	0.80722	D	1	B;B;B	0.24368	0.026;0.102;0.09	B;B;B	0.31390	0.054;0.129;0.034	T	0.66705	-0.5856	10	0.72032	D	0.01	.	13.6045	0.62039	0.0:0.9255:0.0:0.0745	.	41;41;41	Q71TU5;P48729;P48729-2	.;KC1A_HUMAN;.	K	41	ENSP00000261798:E41K;ENSP00000367074:E41K;ENSP00000421689:E41K;ENSP00000421268:E41K	ENSP00000261798:E41K	E	-	1	0	CSNK1A1	148910600	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.439000	0.80444	1.371000	0.46172	0.561000	0.74099	GAG		0.547	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001892		25	17	0	0	0	1	0	25	17		
SNCB	6620	broad.mit.edu	37	5	176053748	176053748	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:176053748C>T	ENST00000310112.3	-	4	386	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SNCB_ENST00000393693.2_Missense_Mutation_p.E46K|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000510387.1_Missense_Mutation_p.E46K|SNCB_ENST00000506696.1_Missense_Mutation_p.E46K	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	46	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACACCTTCTCGGGTCTTG	0.577																																						uc003mep.2		NaN																	0				ovary(1)	1						c.(136-138)GAA>AAA		beta-synuclein							105.0	99.0	101.0					5																	176053748		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176053748C>T	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.136G>A	5.37:g.176053748C>T	ENSP00000308057:p.Glu46Lys					SNCB_uc003meq.2_Missense_Mutation_p.E46K|SNCB_uc010jke.1_Missense_Mutation_p.E46K	p.E46K	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	579	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	46			3; approximate.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).		Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.136G>A	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847029	0.51164	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.03	4.03	0.46877	.	0.412978	0.26359	N	0.024840	D	0.87370	0.6160	N	0.25647	0.755	0.37018	D	0.896051	D;B	0.64830	0.994;0.163	P;B	0.60886	0.88;0.069	D	0.90550	0.4508	10	0.87932	D	0	-2.4602	14.0524	0.64745	0.0:1.0:0.0:0.0	.	46;46	G4Y815;Q16143	.;SYUB_HUMAN	K	46	ENSP00000308057:E46K;ENSP00000377296:E46K;ENSP00000424073:E46K;ENSP00000422223:E46K	ENSP00000308057:E46K	E	-	1	0	SNCB	175986354	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.375000	0.52410	2.267000	0.75376	0.462000	0.41574	GAA		0.577	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2		NM_001001502		31	22	0	0	0	1	0	31	22		
SNCB	6620	broad.mit.edu	37	5	176053750	176053750	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:176053750C>T	ENST00000310112.3	-	4	384	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SNCB_ENST00000393693.2_Missense_Mutation_p.R45Q|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000510387.1_Missense_Mutation_p.R45Q|SNCB_ENST00000506696.1_Missense_Mutation_p.R45Q	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	45	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGGTCTTGCT	0.572																																						uc003mep.2		NaN																	0				ovary(1)	1						c.(133-135)CGA>CAA		beta-synuclein							105.0	99.0	101.0					5																	176053750		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176053750C>T	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.134G>A	5.37:g.176053750C>T	ENSP00000308057:p.Arg45Gln					SNCB_uc003meq.2_Missense_Mutation_p.R45Q|SNCB_uc010jke.1_Missense_Mutation_p.R45Q	p.R45Q	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	577	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	45			3; approximate.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).		Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.134G>A	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883821	0.51908	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	4.12	3.23	0.37069	.	0.423150	0.22212	N	0.063082	T	0.81969	0.4935	L	0.36672	1.1	0.27589	N	0.94933	D;B	0.67145	0.996;0.155	P;B	0.55303	0.773;0.013	T	0.75139	-0.3423	10	0.87932	D	0	-4.0258	10.2518	0.43372	0.0:0.8992:0.0:0.1008	.	45;45	G4Y815;Q16143	.;SYUB_HUMAN	Q	45	ENSP00000308057:R45Q;ENSP00000377296:R45Q;ENSP00000424073:R45Q;ENSP00000422223:R45Q	ENSP00000308057:R45Q	R	-	2	0	SNCB	175986356	0.998000	0.40836	0.998000	0.56505	0.982000	0.71751	0.880000	0.28159	1.071000	0.40834	0.462000	0.41574	CGA		0.572	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2		NM_001001502		31	22	0	0	0	1	0	31	22		
RREB1	6239	broad.mit.edu	37	6	7182305	7182305	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7182305G>A	ENST00000349384.6	+	4	475	c.161G>A	c.(160-162)aGa>aAa	p.R54K	RREB1_ENST00000379938.2_Missense_Mutation_p.R54K|RP11-405O10.2_ENST00000451355.2_RNA|RREB1_ENST00000379933.3_Missense_Mutation_p.R54K|RREB1_ENST00000334984.6_Missense_Mutation_p.R54K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	54					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGATTGGCAGAAGGAACCAG	0.527																																						uc003mxc.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(160-162)AGA>AAA		ras responsive element binding protein 1 isoform							45.0	43.0	44.0					6																	7182305		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7182305G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.161G>A	6.37:g.7182305G>A	ENSP00000305560:p.Arg54Lys					RREB1_uc010jnw.2_Missense_Mutation_p.R54K|RREB1_uc003mxb.2_Missense_Mutation_p.R54K|RREB1_uc010jnx.2_Missense_Mutation_p.R54K|RREB1_uc003mxd.2_Missense_Mutation_p.R54K	p.R54K	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			4	551	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	54					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.161G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141816	0.94560	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000008	T	0.44726	0.1307	L	0.32530	0.975	0.46823	D	0.999218	D;D;D	0.89917	0.992;0.995;1.0	D;D;D	0.83275	0.986;0.98;0.996	T	0.06881	-1.0802	10	0.14252	T	0.57	-29.4433	20.5568	0.99304	0.0:0.0:1.0:0.0	.	54;54;54	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	K	54	ENSP00000369265:R54K;ENSP00000420519:R54K;ENSP00000369270:R54K;ENSP00000420299:R54K;ENSP00000305560:R54K;ENSP00000335574:R54K;ENSP00000419511:R54K	ENSP00000335574:R54K	R	+	2	0	RREB1	7127304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.151000	0.89636	2.861000	0.98227	0.655000	0.94253	AGA		0.527	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				23	15	0	0	0	1	0	23	15		
DSP	1832	broad.mit.edu	37	6	7542296	7542296	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7542296G>A	ENST00000379802.3	+	1	489	c.148G>A	c.(148-150)Gac>Aac	p.D50N	DSP_ENST00000418664.2_Missense_Mutation_p.D50N|RP3-512B11.3_ENST00000561592.1_RNA	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	50	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTGATCACCGACCAGAACTC	0.701																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(148-150)GAC>AAC		desmoplakin isoform I							16.0	16.0	16.0					6																	7542296		2165	4238	6403	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7542296G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.148G>A	6.37:g.7542296G>A	ENSP00000369129:p.Asp50Asn					DSP_uc003mxq.1_Missense_Mutation_p.D50N	p.D50N	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	1	427	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	50			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.148G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771460	0.49680	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.75704	-0.6;-0.96	3.81	3.81	0.43845	.	0.295157	0.23197	N	0.050821	T	0.43100	0.1232	N	0.19112	0.55	0.37871	D	0.930058	P;B	0.41159	0.74;0.063	B;B	0.32211	0.142;0.006	T	0.58912	-0.7552	10	0.72032	D	0.01	.	12.7207	0.57140	0.0:0.0:1.0:0.0	.	97;50	Q4LE79;P15924	.;DESP_HUMAN	N	50	ENSP00000369129:D50N;ENSP00000396591:D50N	ENSP00000369129:D50N	D	+	1	0	DSP	7487295	0.436000	0.25586	0.301000	0.25044	0.433000	0.31745	0.554000	0.23407	1.960000	0.56953	0.555000	0.69702	GAC		0.701	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		2	1	0	0	0	1	0	2	1		
BMP6	654	broad.mit.edu	37	6	7880494	7880494	+	Missense_Mutation	SNP	C	C	T	rs139361183		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7880494C>T	ENST00000283147.6	+	7	1619	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	487					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					AATGCCATCTCGGTTCTTTAC	0.448																																						uc003mxu.3		NaN																	0				large_intestine(2)|ovary(1)	3						c.(1459-1461)TCG>TTG		bone morphogenetic protein 6 preproprotein		C	LEU/SER	0,4406		0,0,2203	180.0	188.0	185.0		1460	5.7	1.0	6	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMP6	NM_001718.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	487/514	7880494	1,13005	2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7880494C>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1460C>T	6.37:g.7880494C>T	ENSP00000283147:p.Ser487Leu						p.S487L	NM_001718	NP_001709	P22004	BMP6_HUMAN			7	1638	+	Ovarian(93;0.0721)		487					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.1460C>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443862	0.96187	0.0	1.16E-4	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	D	0.89681	-2.55	5.65	5.65	0.86999	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96281	0.9206	10	0.87932	D	0	.	19.7244	0.96157	0.0:1.0:0.0:0.0	.	487	P22004	BMP6_HUMAN	L	409;487;450	ENSP00000283147:S487L	ENSP00000283147:S487L	S	+	2	0	BMP6	7825493	1.000000	0.71417	0.960000	0.40013	0.945000	0.59286	7.513000	0.81739	2.659000	0.90383	0.655000	0.94253	TCG		0.448	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1		NM_001718		56	53	0	0	0	1	0	56	53		
HIST1H1B	3009	broad.mit.edu	37	6	27835260	27835260	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:27835260C>T	ENST00000331442.3	-	1	99	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	16					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCGGGGATTTCTCCACCGGCG	0.582																																						uc003njx.2		NaN																	0				large_intestine(2)|lung(1)	3						c.(46-48)GAG>GAA		histone cluster 1, H1b							22.0	26.0	25.0					6																	27835260		2177	4256	6433	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835260C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.48G>A	6.37:g.27835260C>T							p.E16E	NM_005322	NP_005313	P16401	H15_HUMAN			1	100	-			16					Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.48G>A	CCDS4635.1																																																																																				0.582	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1		NM_005322		26	11	0	0	0	1	0	26	11		
GNL1	2794	broad.mit.edu	37	6	30523426	30523426	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:30523426C>T	ENST00000376621.3	-	2	1115	c.145G>A	c.(145-147)Gac>Aac	p.D49N	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	49					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCCGAGGTGTCGGTCTGTTCC	0.662																																						uc003nqh.2		NaN																	0				ovary(3)	3						c.(145-147)GAC>AAC		guanine nucleotide binding protein-like 1							79.0	75.0	77.0					6																	30523426		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30523426C>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.145G>A	6.37:g.30523426C>T	ENSP00000365806:p.Asp49Asn					GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.D47N|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	p.D49N	NM_005275	NP_005266	P36915	GNL1_HUMAN			2	1173	-			49					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.145G>A	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819214	0.71028	.	.	ENSG00000204590	ENST00000376621;ENST00000433809	T	0.44881	0.91	5.08	5.08	0.68730	.	0.185872	0.46758	D	0.000262	T	0.26738	0.0654	L	0.53249	1.67	0.58432	D	0.999996	D;B	0.58268	0.982;0.403	P;B	0.44772	0.46;0.015	T	0.06844	-1.0804	10	0.10902	T	0.67	-27.5912	15.7365	0.77849	0.0:1.0:0.0:0.0	.	47;49	B4DYK6;P36915	.;GNL1_HUMAN	N	49;47	ENSP00000365806:D49N	ENSP00000365806:D49N	D	-	1	0	GNL1	30631405	0.998000	0.40836	0.972000	0.41901	0.812000	0.45895	4.941000	0.63540	2.534000	0.85438	0.561000	0.74099	GAC		0.662	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2				19	17	0	0	0	1	0	19	17		
HLA-C	3107	broad.mit.edu	37	6	31239458	31239458	+	Silent	SNP	C	C	T	rs281860396		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31239458C>T	ENST00000376228.5	-	2	275	c.261G>A	c.(259-261)gaG>gaA	p.E87E	HLA-C_ENST00000383329.3_Silent_p.E87E	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	87	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACTTCTGTGTCTCCCGGTCCC	0.687																																						uc003nsy.2		NaN																	0					0						c.(259-261)GAG>GAA		major histocompatibility complex, class I, C							48.0	49.0	48.0					6																	31239458		1511	2709	4220	SO:0001819	synonymous_variant	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239458C>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.261G>A	6.37:g.31239458C>T						HLA-C_uc011dnj.1_Silent_p.E59E|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Silent_p.E87E|HLA-C_uc010jsl.2_Silent_p.E87E|HLA-C_uc003nta.2_Silent_p.E87E|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	p.E87E	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			2	268	-			87			Extracellular (Potential).|Alpha-1.		O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	c.261G>A	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	-	5.657	0.305862	0.10733	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	-0.312	0.12758	.	.	.	.	.	T	0.09512	0.0234	.	.	.	0.20196	N	0.999921	.	.	.	.	.	.	T	0.35101	-0.9802	4	.	.	.	.	4.8824	0.13686	0.0:0.4342:0.4308:0.135	.	.	.	.	N	87	.	.	D	-	1	0	HLA-C	31347437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.471000	0.02344	-0.078000	0.12730	0.305000	0.20034	GAC		0.687	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3		NM_002117		16	14	0	0	0	1	0	16	14		
DDAH2	23564	broad.mit.edu	37	6	31695035	31695035	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31695035G>A	ENST00000375789.2	-	6	1467	c.837C>T	c.(835-837)ctC>ctT	p.L279L	DDAH2_ENST00000375787.2_Silent_p.L279L|DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Silent_p.L279L			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	279					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GGCGTGTGCTGAGCACCAAGC	0.592																																						uc003nwp.2		NaN																	0					0						c.(835-837)CTC>CTT		dimethylarginine dimethylaminohydrolase 2	L-Citrulline(DB00155)						97.0	121.0	113.0					6																	31695035		1509	2708	4217	SO:0001819	synonymous_variant	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31695035G>A	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.837C>T	6.37:g.31695035G>A						DDAH2_uc003nwq.2_Silent_p.L279L	p.L279L	NM_013974	NP_039268	O95865	DDAH2_HUMAN			6	1468	-			279					A2BEZ7	Silent	SNP	ENST00000375789.2	37	c.837C>T	CCDS4718.1																																																																																				0.592	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2				50	53	0	0	0	1	0	50	53		
SLC44A4	80736	broad.mit.edu	37	6	31842778	31842778	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31842778G>A	ENST00000229729.6	-	5	290	c.270C>T	c.(268-270)aaC>aaT	p.N90N	SLC44A4_ENST00000544672.1_Silent_p.N14N|SLC44A4_ENST00000375562.4_Silent_p.N90N|SLC44A4_ENST00000465707.1_5'UTR	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	90					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGCTGAAGATGTTGAAGTACA	0.597																																						uc010jti.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(268-270)AAC>AAT		choline transporter-like protein 4	Choline(DB00122)						143.0	146.0	145.0					6																	31842778		1511	2709	4220	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842778G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.270C>T	6.37:g.31842778G>A						SLC44A4_uc011dol.1_Silent_p.N14N|SLC44A4_uc011dom.1_Silent_p.N90N	p.N90N	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			5	336	-			90			Extracellular (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.270C>T	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214771	0.22373	.	.	ENSG00000204385	ENST00000414427	.	.	.	5.2	4.31	0.51392	.	.	.	.	.	T	0.50103	0.1596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46938	-0.9155	4	.	.	.	-12.6696	9.8005	0.40761	0.0948:0.0:0.9052:0.0	.	.	.	.	I	86	.	.	T	-	2	0	SLC44A4	31950757	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.860000	0.39428	2.711000	0.92665	0.655000	0.94253	ACA		0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3				44	27	0	0	0	1	0	44	27		
EHMT2	10919	broad.mit.edu	37	6	31864542	31864542	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31864542C>T	ENST00000375537.4	-	3	175	c.169G>A	c.(169-171)Gac>Aac	p.D57N	C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.D114N|EHMT2_ENST00000375528.4_Missense_Mutation_p.D114N|EHMT2_ENST00000480912.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.D57N	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	57					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCCAGGGAGTCGGGGGTGGCC	0.582																																						uc003nxz.1		NaN																	0				ovary(1)	1						c.(169-171)GAC>AAC		euchromatic histone-lysine N-methyltransferase 2							54.0	65.0	61.0					6																	31864542		1509	2709	4218	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31864542C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.169G>A	6.37:g.31864542C>T	ENSP00000364687:p.Asp57Asn					EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Missense_Mutation_p.D114N|EHMT2_uc003nya.1_Missense_Mutation_p.D57N|EHMT2_uc003nyb.1_Missense_Mutation_p.D57N|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	p.D57N	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			3	179	-			57					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.169G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	c	8.240	0.806631	0.16467	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	2.85	1.02	0.19986	.	0.555436	0.15027	N	0.284694	T	0.05640	0.0148	N	0.08118	0	0.25792	N	0.9846	B;B;B;B	0.17465	0.0;0.022;0.003;0.002	B;B;B;B	0.09377	0.0;0.004;0.0;0.0	T	0.32798	-0.9893	10	0.46703	T	0.11	.	4.7076	0.12856	0.0:0.6902:0.0:0.3098	.	114;57;57;57	A2ABF8;Q96KQ7-3;Q96KQ7-2;Q96KQ7	.;.;.;EHMT2_HUMAN	N	114;114;57;57	ENSP00000379078:D114N;ENSP00000364678:D114N;ENSP00000364680:D57N;ENSP00000364687:D57N	ENSP00000364678:D114N	D	-	1	0	EHMT2	31972521	0.299000	0.24426	0.303000	0.25071	0.066000	0.16364	1.479000	0.35453	0.259000	0.21709	0.457000	0.33378	GAC		0.582	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		NM_006709		30	21	0	0	0	1	0	30	21		
RXRB	6257	broad.mit.edu	37	6	33162525	33162525	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:33162525G>A	ENST00000374680.3	-	10	1747	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	COL11A2_ENST00000395197.1_5'Flank|RXRB_ENST00000374685.4_Silent_p.L516L|RXRB_ENST00000544186.1_Silent_p.L326L|COL11A2_ENST00000395194.1_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000341947.2_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	512	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTCACCAATGAGCTTGAAGA	0.557																																						uc003odb.2		NaN																	0				ovary(3)	3						c.(1534-1536)CTC>CTT		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						106.0	95.0	99.0					6																	33162525		1511	2709	4220	SO:0001819	synonymous_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33162525G>A	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1536C>T	6.37:g.33162525G>A						RXRB_uc003odc.2_Silent_p.L516L|RXRB_uc003odd.2_Silent_p.L416L|RXRB_uc011dqr.1_Silent_p.L326L	p.L512L	NM_021976	NP_068811	P28702	RXRB_HUMAN			10	1715	-			512			Ligand-binding (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	c.1536C>T	CCDS4768.1																																																																																				0.557	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2		NM_021976		16	13	0	0	0	1	0	16	13		
C6orf89	221477	broad.mit.edu	37	6	36882094	36882094	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:36882094G>A	ENST00000480824.2	+	5	732	c.438G>A	c.(436-438)caG>caA	p.Q146Q	C6orf89_ENST00000373685.1_Silent_p.Q146Q|C6orf89_ENST00000359359.2_Silent_p.Q40Q|C6orf89_ENST00000355190.3_Silent_p.Q153Q|C6orf89_ENST00000510325.2_Silent_p.Q40Q			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	146					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACTGTGAGCAGAATGAGTCAG	0.517																																						uc003omx.2		NaN																	0				ovary(1)	1						c.(436-438)CAG>CAA		hypothetical protein LOC221477							66.0	68.0	67.0					6																	36882094		2203	4300	6503	SO:0001819	synonymous_variant	221477					integral to membrane		g.chr6:36882094G>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.438G>A	6.37:g.36882094G>A						C6orf89_uc003omv.2_Silent_p.Q40Q|C6orf89_uc003omw.2_Silent_p.Q153Q|C6orf89_uc011dtr.1_Silent_p.Q40Q|C6orf89_uc003omy.2_5'UTR	p.Q146Q	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN			5	722	+			146					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000480824.2	37	c.438G>A																																																																																					0.517	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2		NM_152734		21	21	0	0	0	1	0	21	21		
CCND3	896	broad.mit.edu	37	6	41903779	41903779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:41903779G>A	ENST00000372991.4	-	5	976	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	CCND3_ENST00000415497.2_Nonsense_Mutation_p.Q64*|CCND3_ENST00000372988.4_Nonsense_Mutation_p.Q179*|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000372987.4_Nonsense_Mutation_p.Q210*|CCND3_ENST00000414200.2_Nonsense_Mutation_p.Q188*|CCND3_ENST00000510503.1_Missense_Mutation_p.S133L|CCND3_ENST00000511642.1_Nonsense_Mutation_p.Q179*	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	260					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)	p.Q260*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGCTGGTCTGAGAGGCTTCC	0.627			T	IGH@	MM																																	uc003orn.2		NaN		Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.(778-780)CAG>TAG		cyclin D3 isoform 2							43.0	48.0	46.0					6																	41903779		2203	4300	6503	SO:0001587	stop_gained	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41903779G>A		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.778C>T	6.37:g.41903779G>A	ENSP00000362082:p.Gln260*					CCND3_uc003orp.2_Nonsense_Mutation_p.Q179*|CCND3_uc011duk.1_Nonsense_Mutation_p.Q64*|CCND3_uc003orm.2_Nonsense_Mutation_p.Q210*|CCND3_uc003oro.2_Nonsense_Mutation_p.Q188*	p.Q260*	NM_001760	NP_001751	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	943	-	Colorectal(47;0.121)		260					B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Nonsense_Mutation	SNP	ENST00000372991.4	37	c.778C>T	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.32|15.32	2.798676|2.798676	0.50208|0.50208	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000415497;ENST00000414200|ENST00000510503	.|T	.|0.40476	.|1.03	5.47|5.47	4.59|4.59	0.56863|0.56863	.|.	0.118480|.	0.38005|.	N|.	0.001853|.	.|T	.|0.31796	.|0.0808	.|.	.|.	.|.	0.22968|0.22968	N|N	0.998492|0.998492	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19778	.|-1.0295	.|6	0.59425|0.42905	D|T	0.04|0.14	.|.	14.2248|14.2248	0.65850|0.65850	0.0:0.1494:0.8506:0.0|0.0:0.1494:0.8506:0.0	.|.	.|.	.|.	.|.	X|L	260;179;210;179;64;188|133	.|ENSP00000425986:S133L	ENSP00000362078:Q210X|ENSP00000425986:S133L	Q|S	-|-	1|2	0|0	CCND3|CCND3	42011757|42011757	1.000000|1.000000	0.71417|0.71417	0.467000|0.467000	0.27180|0.27180	0.274000|0.274000	0.26718|0.26718	4.130000|4.130000	0.57964|0.57964	1.296000|1.296000	0.44742|0.44742	0.467000|0.467000	0.42956|0.42956	CAG|TCA		0.627	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2		NM_001760		6	3	0	0	0	1	0	6	3		
HMGCLL1	54511	broad.mit.edu	37	6	55304265	55304265	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:55304265C>G	ENST00000398661.2	-	9	1109	c.978G>C	c.(976-978)ttG>ttC	p.L326F	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.L130F|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.L296F|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.L264F|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.L193F	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	326					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCATATATATCAAATCCTCAG	0.418																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(976-978)TTG>TTC		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							97.0	92.0	93.0					6																	55304265		1864	4101	5965	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55304265C>G	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.978G>C	6.37:g.55304265C>G	ENSP00000381654:p.Leu326Phe					HMGCLL1_uc003pco.2_Missense_Mutation_p.L296F|HMGCLL1_uc010jzx.2_Missense_Mutation_p.L197F|HMGCLL1_uc011dxc.1_Missense_Mutation_p.L264F|HMGCLL1_uc011dxd.1_Missense_Mutation_p.L193F|HMGCLL1_uc011dxe.1_Missense_Mutation_p.L130F	p.L326F	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		9	1137	-	Lung NSC(77;0.0875)		326					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.978G>C	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	c	17.34	3.365827	0.61513	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161	D;D;D;D;D	0.98747	-5.11;-5.11;-4.91;-5.11;-5.11	5.82	5.82	0.92795	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.235352	0.36034	N	0.002832	D	0.99067	0.9680	M	0.90019	3.08	0.80722	D	1	P;P;P;D;D	0.59767	0.622;0.917;0.954;0.969;0.986	B;P;P;P;D	0.65874	0.193;0.5;0.851;0.858;0.939	D	0.99232	1.0882	10	0.87932	D	0	-14.5682	11.3767	0.49733	0.1407:0.7236:0.1357:0.0	.	130;193;264;296;326	B7Z4D4;B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;.;HMGC2_HUMAN	F	296;326;193;130;264	ENSP00000274901:L296F;ENSP00000381654:L326F;ENSP00000359887:L193F;ENSP00000424309:L130F;ENSP00000309737:L264F	ENSP00000274901:L296F	L	-	3	2	HMGCLL1	55412224	0.177000	0.23109	0.870000	0.34147	0.985000	0.73830	0.577000	0.23758	2.755000	0.94549	0.546000	0.68486	TTG		0.418	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1		XM_166383		30	22	0	0	0	1	0	30	22		
COL9A1	1297	broad.mit.edu	37	6	70944596	70944596	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:70944596C>T	ENST00000357250.6	-	34	2318	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Silent_p.R477R|COL9A1_ENST00000320755.7_Silent_p.R477R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	720	Collagen-like 8.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAGGAAGCCCCCGACTTCCCT	0.612																																						uc003pfg.3		NaN																	0				ovary(4)	4						c.(2158-2160)CGG>CGA		alpha 1 type IX collagen isoform 1 precursor							45.0	47.0	46.0					6																	70944596		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70944596C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2160G>A	6.37:g.70944596C>T						COL9A1_uc003pfe.3_Silent_p.R269R|COL9A1_uc003pff.3_Silent_p.R477R	p.R720R	NM_001851	NP_001842	P20849	CO9A1_HUMAN			34	2319	-			720			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.2160G>A	CCDS4971.1																																																																																				0.612	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2				13	11	0	0	0	1	0	13	11		
LACE1	246269	broad.mit.edu	37	6	108676919	108676919	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:108676919A>G	ENST00000368977.4	+	4	663	c.477A>G	c.(475-477)aaA>aaG	p.K159K		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	159						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGAGGAAAAAACGGGTTCATT	0.313																																						uc003psj.2		NaN																	0				central_nervous_system(1)	1						c.(475-477)AAA>AAG		lactation elevated 1							129.0	124.0	126.0					6																	108676919		2203	4299	6502	SO:0001819	synonymous_variant	246269						ATP binding	g.chr6:108676919A>G	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.477A>G	6.37:g.108676919A>G							p.K159K	NM_145315	NP_660358	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	4	663	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	159					Q8N6A3	Silent	SNP	ENST00000368977.4	37	c.477A>G	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	A	9.310	1.055304	0.19907	.	.	ENSG00000135537	ENST00000421954	.	.	.	4.88	2.2	0.27929	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	-9.3772	4.7813	0.13204	0.4896:0.0:0.5104:0.0	.	.	.	.	S	27	.	.	N	+	2	0	LACE1	108783612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.037000	0.49775	0.819000	0.34492	0.455000	0.32223	AAC		0.313	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4		NM_145315		34	16	0	0	0	1	0	34	16		
TRAF3IP2	10758	broad.mit.edu	37	6	111912967	111912967	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:111912967G>A	ENST00000340026.6	-	3	944	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.S108F|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.S108F			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	117	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AGAGCACCCAGAAGGGAAAGC	0.552																																						uc011ebc.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(322-324)TCT>TTT		TRAF3 interacting protein 2 isoform 2							41.0	43.0	42.0					6																	111912967		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912967G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.350C>T	6.37:g.111912967G>A	ENSP00000345984:p.Ser117Phe					TRAF3IP2_uc003pvg.2_Missense_Mutation_p.S108F|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.S108F|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.S108F|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.S108F	p.S108F	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	938	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	117					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.323C>T		.	.	.	.	.	.	.	.	.	.	G	3.129	-0.178912	0.06380	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.37915	1.28;1.17;1.17	5.67	0.0113	0.14086	.	0.984794	0.08285	N	0.969286	T	0.12944	0.0314	L	0.39397	1.21	0.20074	N	0.999932	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.12156	0.002;0.007;0.001	T	0.40757	-0.9546	10	0.49607	T	0.09	-20.3795	10.2091	0.43131	0.5892:0.0:0.4108:0.0	.	117;108;108	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	F	117;108;117;108	ENSP00000357750:S108F;ENSP00000345984:S117F;ENSP00000352889:S108F	ENSP00000345984:S117F	S	-	2	0	TRAF3IP2	112019660	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.050000	0.11904	-0.190000	0.10465	0.555000	0.69702	TCT		0.552	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2				20	17	0	0	0	1	0	20	17		
LAMA4	3910	broad.mit.edu	37	6	112466047	112466047	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:112466047G>A	ENST00000230538.7	-	19	2839	c.2442C>T	c.(2440-2442)agC>agT	p.S814S	LAMA4_ENST00000522006.1_Silent_p.S807S|LAMA4_ENST00000389463.4_Silent_p.S807S|LAMA4_ENST00000424408.2_Silent_p.S807S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	814	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTCTGGATGCTGGCAGAAA	0.488																																						uc003pvu.2		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2440-2442)AGC>AGT		laminin, alpha 4 isoform 1 precursor							95.0	91.0	93.0					6																	112466047		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112466047G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2442C>T	6.37:g.112466047G>A						LAMA4_uc003pvv.2_Silent_p.S807S|LAMA4_uc003pvt.2_Silent_p.S807S	p.S814S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	19	2751	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	814			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2442C>T	CCDS43491.1																																																																																				0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206		30	12	0	0	0	1	0	30	12		
LAMA2	3908	broad.mit.edu	37	6	129826498	129826498	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:129826498C>T	ENST00000421865.2	+	61	8750	c.8701C>T	c.(8701-8703)Cca>Tca	p.P2901S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2901	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGAATTGGTCCAGTAAATAT	0.383																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(8701-8703)CCA>TCA		laminin alpha 2 subunit isoform a precursor							75.0	77.0	76.0					6																	129826498		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129826498C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8701C>T	6.37:g.129826498C>T	ENSP00000400365:p.Pro2901Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.P2897S|uc003qbq.2_Intron	p.P2901S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	60	8806	+			2901			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8701C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222900	0.58668	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.75477	-0.94	5.78	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77765	-0.2465	9	.	.	.	.	14.7811	0.69769	0.0:0.9309:0.0:0.0691	.	2902;2901	A6NF00;P24043	.;LAMA2_HUMAN	S	2901;2900;2901;919	ENSP00000400365:P2901S	.	P	+	1	0	LAMA2	129868191	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.824000	0.75288	1.448000	0.47680	0.655000	0.94253	CCA		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				28	10	0	0	0	1	0	28	10		
REPS1	85021	broad.mit.edu	37	6	139265753	139265753	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:139265753G>A	ENST00000450536.2	-	5	1209	c.635C>T	c.(634-636)tCt>tTt	p.S212F	REPS1_ENST00000367663.4_Missense_Mutation_p.S212F|REPS1_ENST00000258062.5_Missense_Mutation_p.S212F|REPS1_ENST00000409812.2_Missense_Mutation_p.S212F|REPS1_ENST00000415951.2_Missense_Mutation_p.S212F			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	212					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATCACCAGCAGAAGAACCTAT	0.428																																						uc003qii.2		NaN																	0				lung(1)|breast(1)	2						c.(634-636)TCT>TTT		RALBP1 associated Eps domain containing 1							116.0	110.0	112.0					6																	139265753		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139265753G>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.635C>T	6.37:g.139265753G>A	ENSP00000392065:p.Ser212Phe					REPS1_uc003qig.3_Missense_Mutation_p.S212F|REPS1_uc011edr.1_Missense_Mutation_p.S212F|REPS1_uc003qij.2_Missense_Mutation_p.S212F|REPS1_uc003qik.2_Intron	p.S212F	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	5	1214	-			212					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.635C>T		.	.	.	.	.	.	.	.	.	.	G	11.05	1.523458	0.27299	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.32515	1.45;1.46;1.46;1.48;1.45;1.45	5.72	5.72	0.89469	.	0.279960	0.42172	D	0.000747	T	0.12305	0.0299	N	0.19112	0.55	0.32788	N	0.501616	P;P;P;P	0.41569	0.755;0.755;0.694;0.641	B;B;B;B	0.39258	0.295;0.203;0.202;0.1	T	0.05666	-1.0871	10	0.56958	D	0.05	-8.1402	14.1741	0.65529	0.0:0.0:0.8508:0.1492	.	212;212;212;212	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	F	212;212;198;212;212;212;160	ENSP00000392065:S212F;ENSP00000356635:S212F;ENSP00000434251:S198F;ENSP00000386699:S212F;ENSP00000258062:S212F;ENSP00000397941:S212F	ENSP00000258062:S212F	S	-	2	0	REPS1	139307446	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	3.378000	0.52432	2.865000	0.98341	0.655000	0.94253	TCT		0.428	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3				22	28	0	0	0	1	0	22	28		
THBS2	7058	broad.mit.edu	37	6	169648584	169648584	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:169648584G>A	ENST00000366787.3	-	4	786	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	179	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGTGCTCGTAGAAGGGCTCGT	0.617																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NaN																	0				ovary(5)	5						c.(535-537)TTC>TTT		thrombospondin 2 precursor							80.0	78.0	79.0					6																	169648584		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648584G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.537C>T	6.37:g.169648584G>A							p.F179F	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	785	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	179			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.537C>T	CCDS34574.1																																																																																				0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247		39	36	0	0	0	1	0	39	36		
MAFK	7975	broad.mit.edu	37	7	1579901	1579901	+	Missense_Mutation	SNP	G	G	A	rs143840628		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:1579901G>A	ENST00000343242.4	+	3	590	c.361G>A	c.(361-363)Gtg>Atg	p.V121M		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	121					blood coagulation (GO:0007596)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		CGCGCGCACCGTGGCCCGGGG	0.682																																						uc003skr.2		NaN																	0					0						c.(361-363)GTG>ATG		v-maf musculoaponeurotic fibrosarcoma oncogene		G	MET/VAL	0,4392		0,0,2196	34.0	36.0	36.0		361	5.0	1.0	7	dbSNP_134	36	2,8594		0,2,4296	no	missense	MAFK	NM_002360.3	21	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	121/157	1579901	2,12986	2196	4298	6494	SO:0001583	missense	7975				blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:1579901G>A	AF059194	CCDS5325.1	7p22	2013-07-09	2013-07-09		ENSG00000198517	ENSG00000198517			6782	protein-coding gene	gene with protein product	"""basic-leucine zipper transcription factor MafK"", ""erythroid transcription factor NF-E2 p18 subunit"", ""nuclear factor erythroid-2, ubiquitous (p18)"""	600197				9763667	Standard	XM_005249851		Approved	P18, NFE2U	uc003skr.3	O60675	OTTHUMG00000151453	ENST00000343242.4:c.361G>A	7.37:g.1579901G>A	ENSP00000344903:p.Val121Met					MAFK_uc003sks.1_RNA	p.V121M	NM_002360	NP_002351	O60675	MAFK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)	3	572	+		Ovarian(82;0.0253)	121					A4D214	Missense_Mutation	SNP	ENST00000343242.4	37	c.361G>A	CCDS5325.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377115	0.61735	0.0	2.33E-4	ENSG00000198517	ENST00000343242;ENST00000403150;ENST00000406174	D;D;D	0.84944	-1.92;-1.92;-1.92	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	M	0.63843	1.955	0.58432	D	0.999999	D	0.59357	0.985	P	0.54060	0.741	D	0.89337	0.3651	10	0.49607	T	0.09	-37.8258	18.2367	0.89951	0.0:0.0:1.0:0.0	.	121	O60675	MAFK_HUMAN	M	121	ENSP00000344903:V121M;ENSP00000386009:V121M;ENSP00000385437:V121M	ENSP00000344903:V121M	V	+	1	0	MAFK	1546427	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	9.559000	0.98135	2.283000	0.76528	0.549000	0.68633	GTG		0.682	MAFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322712.1		NM_002360		3	7	0	0	0	1	0	3	7		
CREB5	9586	broad.mit.edu	37	7	28858777	28858777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:28858777C>T	ENST00000357727.2	+	11	1798	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q437*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q331*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q437*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q463*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	470					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGCTTGCTCCCAGCAACAAGT	0.502																																						uc003szq.2		NaN																	0				skin(2)	2						c.(1408-1410)CAG>TAG		cAMP responsive element binding protein 5							176.0	166.0	170.0					7																	28858777		2203	4300	6503	SO:0001587	stop_gained	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28858777C>T	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1408C>T	7.37:g.28858777C>T	ENSP00000350359:p.Gln470*					CREB5_uc003szo.2_Nonsense_Mutation_p.Q437*|CREB5_uc003szr.2_Nonsense_Mutation_p.Q463*|CREB5_uc003szs.2_Nonsense_Mutation_p.Q331*	p.Q470*	NM_182898	NP_878901	Q02930	CREB5_HUMAN			11	1798	+			470					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Nonsense_Mutation	SNP	ENST00000357727.2	37	c.1408C>T	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	37	6.493159	0.97612	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-14.7356	19.5909	0.95509	0.0:1.0:0.0:0.0	.	.	.	.	X	437;470;463;437;331	.	ENSP00000350359:Q470X	Q	+	1	0	CREB5	28825302	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.720000	0.68470	2.633000	0.89246	0.650000	0.86243	CAG		0.502	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4		NM_004904		46	81	0	0	0	1	0	46	81		
AOAH	313	broad.mit.edu	37	7	36726373	36726373	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:36726373C>T	ENST00000258749.5	-	2	553	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	AOAH_ENST00000535891.1_Intron|AOAH_ENST00000431169.1_Missense_Mutation_p.E52K	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	52	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCAAGCTGTTCTATTACAGAC	0.512																																						uc003tfh.3		NaN																	0				skin(1)	1						c.(154-156)GAA>AAA		acyloxyacyl hydrolase precursor							148.0	119.0	129.0					7																	36726373		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36726373C>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.154G>A	7.37:g.36726373C>T	ENSP00000258749:p.Glu52Lys					AOAH_uc010kxf.2_Missense_Mutation_p.E52K|AOAH_uc011kba.1_Intron	p.E52K	NM_001637	NP_001628	P28039	AOAH_HUMAN			2	555	-			52			Saposin B-type.		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.154G>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347937	0.24426	.	.	ENSG00000136250	ENST00000258749;ENST00000431169;ENST00000544647	D;D	0.84730	-1.89;-1.89	5.48	3.68	0.42216	Saposin-like (2);Saposin B (2);	0.296397	0.32444	N	0.006091	T	0.75576	0.3868	.	.	.	0.24211	N	0.995477	B;B	0.34290	0.447;0.003	B;B	0.24269	0.052;0.008	T	0.67787	-0.5580	9	0.66056	D	0.02	-12.9581	9.6264	0.39752	0.0:0.8358:0.0:0.1642	.	52;52	C9J8T1;P28039	.;AOAH_HUMAN	K	52	ENSP00000258749:E52K;ENSP00000405683:E52K	ENSP00000258749:E52K	E	-	1	0	AOAH	36692898	0.928000	0.31464	0.028000	0.17463	0.068000	0.16541	2.094000	0.41719	0.797000	0.33971	0.655000	0.94253	GAA		0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2		NM_001637		14	33	0	0	0	1	0	14	33		
NPC1L1	29881	broad.mit.edu	37	7	44556401	44556401	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:44556401G>C	ENST00000289547.4	-	17	3556	c.3501C>G	c.(3499-3501)ctC>ctG	p.L1167L	NPC1L1_ENST00000381160.3_Silent_p.L1140L|NPC1L1_ENST00000546276.1_Silent_p.L1094L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1167					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGAGCAGGTTGAGGAGGCCGG	0.612																																						uc003tlb.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3499-3501)CTC>CTG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						82.0	66.0	71.0					7																	44556401		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44556401G>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3501C>G	7.37:g.44556401G>C						NPC1L1_uc003tlc.2_Silent_p.L1140L|NPC1L1_uc011kbw.1_Silent_p.L1094L|NPC1L1_uc003tla.2_Intron	p.L1167L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			17	3557	-			1167			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.3501C>G	CCDS5491.1																																																																																				0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1		NM_013389		3	12	0	0	0	1	0	3	12		
TNS3	64759	broad.mit.edu	37	7	47344505	47344505	+	Missense_Mutation	SNP	G	G	A	rs575487797		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:47344505G>A	ENST00000398879.1	-	21	3113	c.2747C>T	c.(2746-2748)tCg>tTg	p.S916L	TNS3_ENST00000355730.3_Missense_Mutation_p.S676L|TNS3_ENST00000311160.9_Missense_Mutation_p.S916L			Q68CZ2	TENS3_HUMAN	tensin 3	916					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGAGGGCGTCGAGGACGCATC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0					uc003tnv.2		NaN																	0				ovary(4)	4						c.(2746-2748)TCG>TTG		tensin 3							68.0	78.0	75.0					7																	47344505		2127	4253	6380	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47344505G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2747C>T	7.37:g.47344505G>A	ENSP00000381854:p.Ser916Leu					TNS3_uc003tnw.2_Missense_Mutation_p.S916L	p.S916L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			21	3114	-			916					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2747C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	6.994	0.553558	0.13374	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93859	-2.88;-2.88;-3.3;-2.95	5.58	3.72	0.42706	.	1.032470	0.07634	N	0.929076	D	0.85535	0.5719	N	0.08118	0	0.18873	N	0.999982	B	0.26318	0.146	B	0.14578	0.011	T	0.71258	-0.4646	10	0.27082	T	0.32	0.0428	12.494	0.55916	0.0:0.3227:0.6773:0.0	.	916	Q68CZ2	TENS3_HUMAN	L	916;1026;916;676;372;1019	ENSP00000312143:S916L;ENSP00000381854:S916L;ENSP00000347968:S676L;ENSP00000414358:S1019L	ENSP00000312143:S916L	S	-	2	0	TNS3	47311030	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.847000	0.27696	0.666000	0.31087	-0.175000	0.13238	TCG		0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		NM_022748		10	13	0	0	0	1	0	10	13		
ZNF107	51427	broad.mit.edu	37	7	64168093	64168093	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:64168093G>C	ENST00000395391.1	+	4	2786	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	ZNF107_ENST00000344930.3_Missense_Mutation_p.E471Q|ZNF107_ENST00000423627.1_Missense_Mutation_p.E471Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	471					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)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTATAAATGTGAGGAATGTGG	0.363																																						uc003ttd.2		NaN																	0				ovary(1)	1						c.(1411-1413)GAG>CAG		zinc finger protein 107							26.0	28.0	28.0					7																	64168093		2201	4296	6497	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168093G>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1411G>C	7.37:g.64168093G>C	ENSP00000378789:p.Glu471Gln					ZNF107_uc003tte.2_Missense_Mutation_p.E471Q	p.E471Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2197	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	471			C2H2-type 15.			Missense_Mutation	SNP	ENST00000395391.1	37	c.1411G>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.406702	0.25378	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.18960	2.18;2.18;2.18	1.27	0.213	0.15244	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31827	0.0809	L	0.51853	1.615	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.12116	-1.0560	8	.	.	.	.	3.3862	0.07272	0.5316:0.0:0.4684:0.0	.	471	Q9UII5	ZN107_HUMAN	Q	471	ENSP00000343443:E471Q;ENSP00000400037:E471Q;ENSP00000378789:E471Q	.	E	+	1	0	ZNF107	63805528	0.000000	0.05858	0.144000	0.22314	0.236000	0.25371	-4.837000	0.00179	0.635000	0.30488	0.313000	0.20887	GAG		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1		NM_016220		19	35	0	0	0	1	0	19	35		
TYW1	55253	broad.mit.edu	37	7	66463931	66463931	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:66463931G>A	ENST00000359626.5	+	3	427	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	88	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TCTCAGACTGGAACAGCGAAG	0.378																																						uc003tvn.2		NaN																	0				skin(1)	1						c.(262-264)GGA>GAA		radical S-adenosyl methionine and flavodoxin							118.0	113.0	114.0					7																	66463931		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66463931G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.263G>A	7.37:g.66463931G>A	ENSP00000352645:p.Gly88Glu					TYW1_uc010lai.2_RNA	p.G88E	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			3	412	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	88			FMN (By similarity).|Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.263G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733911	0.69189	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	D;D	0.94417	-2.73;-3.42	4.45	4.45	0.53987	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	U	0.000000	D	0.98330	0.9446	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98645	1.0677	9	.	.	.	.	12.4491	0.55667	0.0:0.0:1.0:0.0	.	88	Q9NV66	TYW1_HUMAN	E	88	ENSP00000352645:G88E;ENSP00000398897:G88E	.	G	+	2	0	TYW1	66101366	1.000000	0.71417	0.950000	0.38849	0.774000	0.43823	6.977000	0.76141	2.328000	0.79073	0.563000	0.77884	GGA		0.378	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2		NM_018264		25	56	0	0	0	1	0	25	56		
TRIM50	135892	broad.mit.edu	37	7	72738632	72738632	+	Missense_Mutation	SNP	G	G	A	rs202100558		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:72738632G>A	ENST00000333149.2	-	2	354	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	TRIM50_ENST00000453152.1_Missense_Mutation_p.R52C|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	52						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACGGGGCAGCGCAGCTCGGCA	0.677											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		15722	0.0		0.0	False		,,,				2504	0.0					uc010lbd.1		NaN																	0				skin(1)	1						c.(154-156)CGC>TGC		tripartite motif protein 50A		G	CYS/ARG	0,4406		0,0,2203	51.0	50.0	51.0		154	-0.3	0.9	7		51	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRIM50	NM_178125.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	52/488	72738632	1,13005	2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72738632G>A	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.154C>T	7.37:g.72738632G>A	ENSP00000327994:p.Arg52Cys		OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R52C|TRIM50_uc003txz.1_Missense_Mutation_p.R52C	p.R52C	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			2	279	-			52			RING-type.		Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.154C>T	CCDS34654.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.393	0.440703	0.12104	0.0	1.16E-4	ENSG00000146755	ENST00000333149;ENST00000453152	D;D	0.84800	-1.9;-1.9	3.94	-0.311	0.12761	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.238103	0.27331	N	0.019851	T	0.72590	0.3479	L	0.33753	1.03	0.31286	N	0.689981	B;B	0.14012	0.008;0.009	B;B	0.10450	0.003;0.005	T	0.63171	-0.6697	10	0.46703	T	0.11	.	5.4663	0.16646	0.1717:0.0:0.5506:0.2778	.	52;52	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	C	52	ENSP00000327994:R52C;ENSP00000413875:R52C	ENSP00000327994:R52C	R	-	1	0	TRIM50	72376568	0.983000	0.35010	0.933000	0.37362	0.230000	0.25150	1.812000	0.38952	0.056000	0.16144	-0.515000	0.04445	CGC		0.677	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1		NM_178125		23	44	0	0	0	1	0	23	44		
PCLO	27445	broad.mit.edu	37	7	82583410	82583410	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:82583410C>T	ENST00000333891.9	-	5	7196	c.6859G>A	c.(6859-6861)Gac>Aac	p.D2287N	PCLO_ENST00000423517.2_Missense_Mutation_p.D2287N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACAGTGTCAGCAACTGGC	0.393																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(6859-6861)GAC>AAC		piccolo isoform 1							109.0	107.0	108.0					7																	82583410		1880	4119	5999	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583410C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6859G>A	7.37:g.82583410C>T	ENSP00000334319:p.Asp2287Asn					PCLO_uc003uhv.2_Missense_Mutation_p.D2287N|PCLO_uc010lec.2_5'Flank	p.D2287N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7148	-			2218						Missense_Mutation	SNP	ENST00000333891.9	37	c.6859G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.480	0.859581	0.17178	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	5.37	4.48	0.54585	.	.	.	.	.	T	0.20333	0.0489	L	0.51422	1.61	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.35114	0.196;0.196	T	0.04103	-1.0977	9	0.87932	D	0	.	12.7802	0.57472	0.0:0.9217:0.0:0.0783	.	2287;2287	Q9Y6V0-5;Q9Y6V0-6	.;.	N	2218;2287;2287	ENSP00000334319:D2287N;ENSP00000388393:D2287N	ENSP00000334319:D2287N	D	-	1	0	PCLO	82421346	0.950000	0.32346	0.993000	0.49108	0.091000	0.18340	1.563000	0.36364	2.504000	0.84457	0.603000	0.83216	GAC		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		43	88	0	0	0	1	0	43	88		
DBF4	10926	broad.mit.edu	37	7	87533643	87533643	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:87533643A>G	ENST00000265728.1	+	11	1465	c.961A>G	c.(961-963)Agt>Ggt	p.S321G		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	321					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTTTGCACAGAGTAACCAGTA	0.284																																						uc003ujf.1		NaN																	0				lung(2)	2						c.(961-963)AGT>GGT		activator of S phase kinase							101.0	103.0	102.0					7																	87533643		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87533643A>G	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.961A>G	7.37:g.87533643A>G	ENSP00000265728:p.Ser321Gly					DBF4_uc003ujh.1_Missense_Mutation_p.S61G|DBF4_uc003ujg.1_Missense_Mutation_p.S97G|DBF4_uc011khf.1_Missense_Mutation_p.S88G	p.S321G	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			11	1465	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	321			DBF4-type.		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.961A>G	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411438	0.83340	.	.	ENSG00000006634	ENST00000265728	T	0.36157	1.27	5.55	5.55	0.83447	Zinc finger, DBF-type (3);	0.101779	0.64402	D	0.000005	T	0.55433	0.1920	L	0.54323	1.7	0.51767	D	0.999933	D;P	0.76494	0.999;0.913	D;P	0.71656	0.974;0.741	T	0.57952	-0.7722	10	0.72032	D	0.01	-4.8503	15.6851	0.77402	1.0:0.0:0.0:0.0	.	97;321	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	G	321	ENSP00000265728:S321G	ENSP00000265728:S321G	S	+	1	0	DBF4	87371579	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.347000	0.73004	2.118000	0.64928	0.402000	0.26972	AGT		0.284	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1		NM_006716		26	26	0	0	0	1	0	26	26		
ADAM22	53616	broad.mit.edu	37	7	87797475	87797475	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:87797475A>T	ENST00000265727.7	+	25	2294	c.2215A>T	c.(2215-2217)Ata>Tta	p.I739L	ADAM22_ENST00000398201.4_Missense_Mutation_p.I739L|ADAM22_ENST00000398204.4_Missense_Mutation_p.I739L|ADAM22_ENST00000315984.7_Missense_Mutation_p.I739L|ADAM22_ENST00000398209.3_Missense_Mutation_p.I739L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	739					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAATATCATAATAGGCATAAT	0.363																																						uc003ujn.2		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(2215-2217)ATA>TTA		ADAM metallopeptidase domain 22 isoform 1							101.0	91.0	94.0					7																	87797475		1832	4093	5925	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87797475A>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2215A>T	7.37:g.87797475A>T	ENSP00000265727:p.Ile739Leu					ADAM22_uc003ujk.1_Missense_Mutation_p.I739L|ADAM22_uc003ujl.1_Missense_Mutation_p.I739L|ADAM22_uc003ujm.2_Missense_Mutation_p.I739L|ADAM22_uc003ujo.2_Missense_Mutation_p.I739L|ADAM22_uc003ujp.1_Missense_Mutation_p.I791L	p.I739L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		25	2294	+	Esophageal squamous(14;0.00202)		739			Helical; (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2215A>T	CCDS47637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.3|26.3	4.720738|4.720738	0.89205|0.89205	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930|ENST00000413139	T;T;T;T;T;T;T|.	0.47869|.	4.51;4.44;4.43;4.49;4.52;4.44;0.83|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.043439|.	0.85682|.	D|.	0.000000|.	T|T	0.69735|0.69735	0.3144|0.3144	L|L	0.56396|0.56396	1.775|1.775	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.71674|.	0.996;0.998;0.996;0.99|.	D;D;D;D|.	0.87578|.	0.995;0.998;0.995;0.99|.	T|T	0.68318|0.68318	-0.5440|-0.5440	10|5	0.49607|.	T|.	0.09|.	.|.	14.8211|14.8211	0.70074|0.70074	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	791;739;739;739|.	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2|.	.;.;ADA22_HUMAN;.|.	L|I	739;739;739;739;739;706;97|38	ENSP00000381262:I739L;ENSP00000381260:I739L;ENSP00000265727:I739L;ENSP00000315900:I739L;ENSP00000381267:I739L;ENSP00000381261:I706L;ENSP00000396233:I97L|.	ENSP00000265727:I739L|.	I|N	+|+	1|2	0|0	ADAM22|ADAM22	87635411|87635411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.897000|5.897000	0.69831|0.69831	2.198000|2.198000	0.70561|0.70561	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.363	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		14	34	0	0	0	1	0	14	34		
KRIT1	889	broad.mit.edu	37	7	91863905	91863905	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:91863905C>T	ENST00000340022.2	-	10	1865	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394505.2_Splice_Site_p.E283K|KRIT1_ENST00000394507.1_Splice_Site_p.E283K|KRIT1_ENST00000412043.2_Splice_Site_p.E283K	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	283					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACTGTCGTTCCCTAATCATT	0.368																																						uc003ulq.1		NaN																	0				ovary(2)|lung(1)	3						c.(847-849)GAA>AAA		krev interaction trapped 1 isoform 1							58.0	61.0	60.0					7																	91863905		2203	4300	6503	SO:0001630	splice_region_variant	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91863905C>T	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.846-1G>A	7.37:g.91863905C>T						KRIT1_uc010lev.1_Missense_Mutation_p.E76K|KRIT1_uc003ulr.1_Missense_Mutation_p.E283K|KRIT1_uc003uls.1_Missense_Mutation_p.E283K|KRIT1_uc003ult.1_Intron|KRIT1_uc003ulu.1_Missense_Mutation_p.E283K|KRIT1_uc003ulv.1_Missense_Mutation_p.E283K	p.E283K	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1018	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		283					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.847G>A	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577214	0.65878	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000415227;ENST00000445516	T;T;T;T;T	0.46063	0.97;0.97;0.97;0.97;0.88	5.28	5.28	0.74379	.	0.099291	0.64402	D	0.000002	T	0.29389	0.0732	L	0.28608	0.87	0.58432	D	0.999991	P;P	0.38922	0.651;0.651	B;B	0.27262	0.078;0.078	T	0.07177	-1.0786	10	0.22706	T	0.39	-0.0684	18.913	0.92493	0.0:1.0:0.0:0.0	.	283;283	A4D1F7;O00522	.;KRIT1_HUMAN	K	283;283;283;283;283;45	ENSP00000378015:E283K;ENSP00000344668:E283K;ENSP00000410909:E283K;ENSP00000378013:E283K;ENSP00000404084:E45K	ENSP00000344668:E283K	E	-	1	0	KRIT1	91701841	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.477000	0.66799	2.460000	0.83146	0.467000	0.42956	GAA		0.368	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			Missense_Mutation	26	43	0	0	0	1	0	26	43		
CDK6	1021	broad.mit.edu	37	7	92462443	92462443	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:92462443C>T	ENST00000265734.4	-	2	606	c.195G>A	c.(193-195)ctG>ctA	p.L65L	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Silent_p.L65L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	65	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCAGGTGCCTCAGCACCGCCA	0.706			T	MLLT10	ALL						OREG0018165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011khw.1		NaN		Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|skin(1)	2						c.(193-195)CTG>CTA		cyclin-dependent kinase 6							24.0	24.0	24.0					7																	92462443		2200	4298	6498	SO:0001819	synonymous_variant	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92462443C>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.195G>A	7.37:g.92462443C>T			OREG0018165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1290	CDK6_uc010lez.2_Silent_p.L65L	p.L65L	NM_001259	NP_001250	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	607	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		65			Protein kinase.		A4D1G0	Silent	SNP	ENST00000265734.4	37	c.195G>A	CCDS5628.1																																																																																				0.706	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2				5	5	0	0	0	1	0	5	5		
ZAN	7455	broad.mit.edu	37	7	100364685	100364685	+	RNA	SNP	C	C	T	rs550673734		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:100364685C>T	ENST00000348028.3	+	0	4830				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1555G(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTTCGATGGCGCCTTGCACC	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18597	0.0		0.0	False		,,,				2504	0.0					uc003uwj.2		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4663-4665)GGC>GGT		zonadhesin isoform 3							84.0	88.0	87.0					7																	100364685		2175	4277	6452			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364685C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364685C>T						ZAN_uc003uwk.2_Silent_p.G1555G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.G132G	p.G1555G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		25	4830	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1555			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.4665C>T																																																																																					0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		15	39	0	0	0	1	0	15	39		
NAMPT	10135	broad.mit.edu	37	7	105909656	105909656	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:105909656C>T	ENST00000222553.3	-	5	857	c.550G>A	c.(550-552)Gat>Aat	p.D184N	NAMPT_ENST00000354289.4_Missense_Mutation_p.D184N|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	184					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCCAGACCATCTAAGTTACCA	0.368																																						uc003vdq.2		NaN																	0				large_intestine(1)	1						c.(550-552)GAT>AAT		nicotinamide phosphoribosyltransferase							60.0	58.0	59.0					7																	105909656		2203	4296	6499	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105909656C>T	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.550G>A	7.37:g.105909656C>T	ENSP00000222553:p.Asp184Asn					NAMPT_uc003vdr.1_Missense_Mutation_p.D184N|NAMPT_uc011klu.1_Missense_Mutation_p.D97N	p.D184N	NM_005746	NP_005737	P43490	NAMPT_HUMAN			5	858	-			184					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.550G>A	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527248	0.44969	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	4.97	3.16	0.36331	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.489467	0.23955	N	0.042920	T	0.44540	0.1298	L	0.58302	1.8	0.32166	N	0.582269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.47249	-0.9132	9	0.25106	T	0.35	-3.2326	8.7123	0.34391	0.0:0.7655:0.0:0.2345	.	97;165;184	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	N	184	.	ENSP00000222553:D184N	D	-	1	0	NAMPT	105696892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.252000	0.32874	0.599000	0.29845	-0.145000	0.13849	GAT		0.368	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1		NM_182790		11	28	0	0	0	1	0	11	28		
DLD	1738	broad.mit.edu	37	7	107531736	107531736	+	Splice_Site	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:107531736T>A	ENST00000205402.5	+	1	320		c.e1+2		DLD_ENST00000437604.2_Splice_Site|DLD_ENST00000440410.1_Splice_Site|DLD_ENST00000537148.1_Splice_Site	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase						branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TTGGCCAAGGTGAGGGCCGAG	0.622																																						uc003vet.2		NaN																	0				central_nervous_system(1)	1						c.e1+2		dihydrolipoamide dehydrogenase precursor	NADH(DB00157)						142.0	112.0	122.0					7																	107531736		2203	4300	6503	SO:0001630	splice_region_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107531736T>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.39+2T>A	7.37:g.107531736T>A						DLD_uc010ljm.1_Splice_Site|DLD_uc011kmg.1_Splice_Site_p.K13_splice|DLD_uc011kmh.1_Splice_Site_p.K13_splice|DLD_uc011kmi.1_Splice_Site	p.K13_splice	NM_000108	NP_000099	P09622	DLDH_HUMAN			1	149	+								B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Splice_Site	SNP	ENST00000205402.5	37	c.39_splice	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442232	0.83993	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000440410;ENST00000437604	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6932	0.51527	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLD	107318972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.771000	0.55318	2.260000	0.74910	0.533000	0.62120	.		0.622	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3		NM_000108	Intron	12	21	0	0	0	1	0	12	21		
FOXP2	93986	broad.mit.edu	37	7	114299688	114299688	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:114299688G>T	ENST00000393494.2	+	13	1886	c.1607G>T	c.(1606-1608)cGg>cTg	p.R536L	FOXP2_ENST00000403559.4_Missense_Mutation_p.R553L|FOXP2_ENST00000393498.2_Missense_Mutation_p.R515L|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.R561L|FOXP2_ENST00000350908.4_Missense_Mutation_p.R536L|FOXP2_ENST00000393491.3_Missense_Mutation_p.R351L|FOXP2_ENST00000393489.3_Missense_Mutation_p.R444L			O15409	FOXP2_HUMAN	forkhead box P2	536					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGGTTTACACGGACATTTGCT	0.398																																						uc003vhb.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1606-1608)CGG>CTG		forkhead box P2 isoform I							150.0	141.0	144.0					7																	114299688		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114299688G>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1607G>T	7.37:g.114299688G>T	ENSP00000377132:p.Arg536Leu					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R561L|FOXP2_uc003vha.2_Missense_Mutation_p.R444L|FOXP2_uc011kmu.1_Missense_Mutation_p.R553L|FOXP2_uc011kmv.1_Missense_Mutation_p.R535L|FOXP2_uc010ljz.1_Missense_Mutation_p.R351L|FOXP2_uc003vhe.1_Missense_Mutation_p.R106L	p.R536L	NM_014491	NP_055306	O15409	FOXP2_HUMAN			13	1981	+			536			Fork-head.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1607G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786614	0.49997	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97207	0.9087	L	0.55017	1.72	0.80722	D	1	D;D;D;D;D	0.64830	0.994;0.994;0.984;0.994;0.992	D;D;D;D;D	0.76575	0.982;0.988;0.952;0.982;0.979	D	0.97007	0.9733	10	0.62326	D	0.03	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	535;553;351;536;561	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	L	536;561;553;536;513;444;351	ENSP00000377132:R536L;ENSP00000386200:R561L;ENSP00000385069:R553L;ENSP00000265436:R536L;ENSP00000377129:R444L;ENSP00000377130:R351L	ENSP00000265436:R536L	R	+	2	0	FOXP2	114086924	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	CGG		0.398	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491		9	78	1	0	0.00621372	1	0.00624553	9	78		
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000323984.3_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393444.3_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		14	30	0	0	0	1	0	14	30		
RBM28	55131	broad.mit.edu	37	7	127961459	127961459	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:127961459G>C	ENST00000223073.2	-	14	1537	c.1423C>G	c.(1423-1425)Cag>Gag	p.Q475E	RBM28_ENST00000415472.2_Missense_Mutation_p.Q334E|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	475					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGAGTTTCTGATGCTTCAGC	0.433																																						uc003vmp.2		NaN																	0				ovary(2)	2						c.(1423-1425)CAG>GAG		RNA binding motif protein 28							96.0	89.0	91.0					7																	127961459		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127961459G>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1423C>G	7.37:g.127961459G>C	ENSP00000223073:p.Gln475Glu					RBM28_uc003vmo.2_Missense_Mutation_p.Q92E|RBM28_uc011koj.1_Missense_Mutation_p.Q334E	p.Q475E	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			14	1538	-			475					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1423C>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	8.562	0.877932	0.17395	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.19532	3.04;2.14	5.72	5.72	0.89469	.	0.188039	0.47455	D	0.000235	T	0.17023	0.0409	L	0.34521	1.04	0.38368	D	0.944794	B;P;B	0.35844	0.017;0.524;0.017	B;B;B	0.34418	0.013;0.182;0.013	T	0.07501	-1.0769	10	0.11182	T	0.66	-21.6804	17.3829	0.87409	0.0:0.0:1.0:0.0	.	334;475;334	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	E	475;334	ENSP00000223073:Q475E;ENSP00000390517:Q334E	ENSP00000223073:Q475E	Q	-	1	0	RBM28	127748695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.866000	0.39489	2.689000	0.91719	0.655000	0.94253	CAG		0.433	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2		NM_018077		15	30	0	0	0	1	0	15	30		
TNPO3	23534	broad.mit.edu	37	7	128630024	128630024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:128630024G>A	ENST00000265388.5	-	11	1632	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	TNPO3_ENST00000393245.1_Nonsense_Mutation_p.Q531*|TNPO3_ENST00000482320.1_Nonsense_Mutation_p.Q431*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.Q531*|TNPO3_ENST00000471234.1_Nonsense_Mutation_p.Q497*			Q9Y5L0	TNPO3_HUMAN	transportin 3	497					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCAAGGAACTGAGGATTTCGA	0.438																																					Pancreas(147;583 2585 39696 52331)	uc003vol.1		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(1489-1491)CAG>TAG		transportin 3							163.0	136.0	145.0					7																	128630024		2203	4300	6503	SO:0001587	stop_gained	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128630024G>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1489C>T	7.37:g.128630024G>A	ENSP00000265388:p.Gln497*					TNPO3_uc003vom.1_Nonsense_Mutation_p.Q431*|TNPO3_uc010lly.1_Nonsense_Mutation_p.Q531*|TNPO3_uc010llz.1_Nonsense_Mutation_p.Q497*	p.Q497*	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			11	1863	-			497					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Nonsense_Mutation	SNP	ENST00000265388.5	37	c.1489C>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	41	8.958767	0.99018	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.69	5.69	0.88448	.	0.177684	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.3149	0.87220	0.0:0.0:1.0:0.0	.	.	.	.	X	531;497;431;497;531	.	ENSP00000265388:Q497X	Q	-	1	0	TNPO3	128417260	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.233000	0.58651	2.683000	0.91414	0.655000	0.94253	CAG		0.438	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1		NM_012470		23	50	0	0	0	1	0	23	50		
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139107066	139107066	+	Missense_Mutation	SNP	C	C	T	rs560389628		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:139107066C>T	ENST00000354926.4	+	10	1513	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.R386C|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|LUC7L2_ENST00000541515.3_Missense_Mutation_p.R453C|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.R384C	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CTCTGAAGAGCGCGAAGCAGG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20384	0.0		0.0	False		,,,				2504	0.001					uc003vux.2		NaN																	0					0						c.(1159-1161)CGC>TGC		LUC7-like 2							128.0	132.0	130.0					7																	139107066		1945	4147	6092	SO:0001583	missense	51631						enzyme binding|metal ion binding	g.chr7:139107066C>T		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.1159C>T	7.37:g.139107066C>T	ENSP00000347005:p.Arg387Cys					LUC7L2_uc011kqs.1_Missense_Mutation_p.R384C|LUC7L2_uc011kqt.1_Missense_Mutation_p.R453C|LUC7L2_uc003vuy.2_Missense_Mutation_p.R386C|LUC7L2_uc003vva.2_Missense_Mutation_p.R334C	p.R387C	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			10	1533	+	Melanoma(164;0.242)		387			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000354926.4	37	c.1159C>T	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150498	0.57151	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.52295	0.68;1.25;0.68;0.67	6.03	6.03	0.97812	.	0.161007	0.56097	D	0.000029	T	0.41811	0.1175	L	0.43923	1.385	0.42578	D	0.993203	D;D;P;P	0.56968	0.978;0.975;0.954;0.923	B;B;B;B	0.41299	0.353;0.183;0.339;0.183	T	0.60073	-0.7334	9	0.87932	D	0	-2.5595	13.7311	0.62787	0.0:0.9301:0.0:0.0698	.	453;384;386;387	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	C	384;453;387;387;386	ENSP00000441604:R384C;ENSP00000440222:R453C;ENSP00000347005:R387C;ENSP00000263545:R386C	ENSP00000263545:R386C	R	+	1	0	LUC7L2	138757606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.754000	0.55189	2.868000	0.98415	0.557000	0.71058	CGC		0.468	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2				22	73	0	0	0	1	0	22	73		
EZH2	2146	broad.mit.edu	37	7	148523641	148523641	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:148523641G>T	ENST00000460911.1	-	8	900	c.812C>A	c.(811-813)tCt>tAt	p.S271Y	EZH2_ENST00000541220.1_Missense_Mutation_p.S262Y|EZH2_ENST00000536783.1_Missense_Mutation_p.S162Y|EZH2_ENST00000483967.1_Missense_Mutation_p.S262Y|EZH2_ENST00000320356.2_Missense_Mutation_p.S271Y|EZH2_ENST00000350995.2_Missense_Mutation_p.S232Y|EZH2_ENST00000478654.1_Missense_Mutation_p.S262Y|EZH2_ENST00000476773.1_Missense_Mutation_p.S262Y			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	271	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTGAACAGATTTAGCATT	0.423			Mis		DLBCL																																	uc003wfd.1		NaN		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(811-813)TCT>TAT		enhancer of zeste 2 isoform a							165.0	138.0	147.0					7																	148523641		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148523641G>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.812C>A	7.37:g.148523641G>T	ENSP00000419711:p.Ser271Tyr					EZH2_uc011kug.1_Missense_Mutation_p.S262Y|EZH2_uc003wfb.1_Missense_Mutation_p.S271Y|EZH2_uc003wfc.1_Missense_Mutation_p.S232Y|EZH2_uc011kuh.1_Missense_Mutation_p.S262Y|EZH2_uc011kui.1_Missense_Mutation_p.S271Y|EZH2_uc011kuj.1_RNA	p.S271Y	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		8	978	-	Melanoma(164;0.15)		271			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.812C>A	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	31	5.065546	0.93898	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.979;0.994;0.997;0.999;0.994;0.998	D	0.91783	0.5437	10	0.87932	D	0	.	19.4397	0.94813	0.0:0.0:1.0:0.0	.	271;262;262;271;232;271	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	Y	262;271;271;232;262;262;262;162	ENSP00000417062:S262Y;ENSP00000320147:S271Y;ENSP00000419711:S271Y;ENSP00000223193:S232Y;ENSP00000443219:S262Y;ENSP00000419050:S262Y;ENSP00000419856:S262Y;ENSP00000439305:S162Y	ENSP00000320147:S271Y	S	-	2	0	EZH2	148154574	1.000000	0.71417	0.958000	0.39756	0.994000	0.84299	9.611000	0.98342	2.582000	0.87167	0.591000	0.81541	TCT		0.423	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1		NM_004456		15	37	1	0	6.72482e-11	1	6.9612e-11	15	37		
AGAP3	116988	broad.mit.edu	37	7	150817139	150817139	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:150817139C>T	ENST00000463381.1	+	8	847	c.351C>T	c.(349-351)atC>atT	p.I117I	AGAP3_ENST00000473312.1_Silent_p.I345I|AGAP3_ENST00000397238.2_Silent_p.I345I|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Silent_p.I525I	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	309	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCCCCAGCATCAGCCAGCGGG	0.652																																						uc003wjg.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1033-1035)ATC>ATT		centaurin, gamma 3 isoform a							54.0	66.0	62.0					7																	150817139		2164	4265	6429	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150817139C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.351C>T	7.37:g.150817139C>T						AGAP3_uc003wje.1_Silent_p.I117I|AGAP3_uc003wjf.1_Silent_p.I345I|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Silent_p.I525I|AGAP3_uc003wji.1_5'Flank	p.I345I	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			8	1038	+			309			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000463381.1	37	c.1035C>T																																																																																					0.652	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2		NM_031946		18	12	0	0	0	1	0	18	12		
NOM1	64434	broad.mit.edu	37	7	156746908	156746908	+	Silent	SNP	C	C	T	rs114285170	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:156746908C>T	ENST00000275820.3	+	3	1239	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	408	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGGTGCCTGCGTCACTGCCT	0.542													C|||	5	0.000998403	0.0023	0.0	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.002					uc003wmy.2		NaN																	0					0						c.(1222-1224)TGC>TGT		nucleolar protein with MIF4G domain 1		C		6,4400	11.4+/-27.6	0,6,2197	133.0	106.0	115.0		1224	-8.0	0.0	7	dbSNP_132	115	0,8600		0,0,4300	no	coding-synonymous	NOM1	NM_138400.1		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		408/861	156746908	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156746908C>T	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1224C>T	7.37:g.156746908C>T							p.C408C	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	1239	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	408			MIF4G.		Q96I08	Silent	SNP	ENST00000275820.3	37	c.1224C>T	CCDS34787.1																																																																																				0.542	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400		4	45	0	0	0	1	0	4	45		
ESYT2	57488	broad.mit.edu	37	7	158557520	158557520	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:158557520C>T	ENST00000251527.5	-	9	1158	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	393	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TCCTGAGCTTCAATAAAATGT	0.428																																						uc003wob.1		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.(1093-1095)GAA>AAA		family with sequence similarity 62 (C2 domain							99.0	94.0	95.0					7																	158557520		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158557520C>T	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1093G>A	7.37:g.158557520C>T	ENSP00000251527:p.Glu365Lys					ESYT2_uc003woc.1_Missense_Mutation_p.E189K|ESYT2_uc003wod.1_Missense_Mutation_p.E365K|ESYT2_uc003woa.1_5'Flank	p.E365K	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			9	1159	-			393			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1093G>A	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714213	0.96830	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.10382	2.88;2.88	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.52011	1.625	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.69142	0.919;0.962	T	0.00282	-1.1850	10	0.72032	D	0.01	-8.673	18.7125	0.91662	0.0:1.0:0.0:0.0	.	393;365	A0FGR8-6;A0FGR8-2	.;.	K	365;393;335;189	ENSP00000251527:E365K;ENSP00000275418:E335K	ENSP00000251527:E365K	E	-	1	0	ESYT2	158250281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.654000	0.83653	2.659000	0.90383	0.655000	0.94253	GAA		0.428	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1		NM_020728		34	64	0	0	0	1	0	34	64		
CSMD1	64478	broad.mit.edu	37	8	4277529	4277529	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:4277529A>G	ENST00000520002.1	-	3	916	c.361T>C	c.(361-363)Tgg>Cgg	p.W121R	CSMD1_ENST00000537824.1_Missense_Mutation_p.W121R|CSMD1_ENST00000602723.1_Missense_Mutation_p.W121R|CSMD1_ENST00000400186.3_Missense_Mutation_p.W121R|CSMD1_ENST00000542608.1_Missense_Mutation_p.W121R|CSMD1_ENST00000602557.1_Missense_Mutation_p.W121R|CSMD1_ENST00000539096.1_Missense_Mutation_p.W121R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	121	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCGTGAACCACAGAGTGAGG	0.413																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(361-363)TGG>CGG		CUB and Sushi multiple domains 1 precursor							65.0	63.0	64.0					8																	4277529		1900	4114	6014	SO:0001583	missense	64478					integral to membrane		g.chr8:4277529A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.361T>C	8.37:g.4277529A>G	ENSP00000430733:p.Trp121Arg						p.W121R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	3	751	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	121			Extracellular (Potential).|CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.361T>C		.	.	.	.	.	.	.	.	.	.	A	3.355	-0.131616	0.06753	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.35	5.35	0.76521	.	.	.	.	.	T	0.06735	0.0172	N	0.00446	-1.495	0.33996	D	0.649776	B	0.12630	0.006	B	0.17098	0.017	T	0.23619	-1.0183	9	0.13853	T	0.58	.	8.1896	0.31359	0.9103:0.0:0.0897:0.0	.	121	E5RIG2	.	R	121	ENSP00000383047:W121R;ENSP00000430733:W121R;ENSP00000441462:W121R;ENSP00000446243:W121R;ENSP00000441675:W121R	ENSP00000383047:W121R	W	-	1	0	CSMD1	4264937	1.000000	0.71417	0.998000	0.56505	0.594000	0.36715	5.284000	0.65627	2.147000	0.66899	0.528000	0.53228	TGG		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		3	5	0	0	0	1	0	3	5		
RP1L1	94137	broad.mit.edu	37	8	10467275	10467275	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:10467275C>T	ENST00000382483.3	-	4	4556	c.4333G>A	c.(4333-4335)Gag>Aag	p.E1445K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1525					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGTGCCCTCTGCGGGGCAC	0.632																																						uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4333-4335)GAG>AAG		retinitis pigmentosa 1-like 1							110.0	122.0	118.0					8																	10467275		1976	4170	6146	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467275C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4333G>A	8.37:g.10467275C>T	ENSP00000371923:p.Glu1445Lys						p.E1445K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4562	-			1445					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4333G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588430	0.46110	.	.	ENSG00000183638	ENST00000382483	T	0.04234	3.67	4.78	4.78	0.61160	.	1.113020	0.07147	U	0.848467	T	0.06645	0.0170	N	0.24115	0.695	0.09310	N	1	P	0.52842	0.956	B	0.44224	0.444	T	0.49263	-0.8958	10	0.41790	T	0.15	-0.7736	15.3326	0.74226	0.0:1.0:0.0:0.0	.	1445	A6NKC6	.	K	1445	ENSP00000371923:E1445K	ENSP00000371923:E1445K	E	-	1	0	RP1L1	10504685	0.008000	0.16893	0.010000	0.14722	0.002000	0.02628	2.199000	0.42715	2.471000	0.83476	0.561000	0.74099	GAG		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				99	126	0	0	0	1	0	99	126		
LONRF1	91694	broad.mit.edu	37	8	12583256	12583256	+	Missense_Mutation	SNP	C	C	T	rs374942182		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:12583256C>T	ENST00000398246.3	-	11	2212	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	LONRF1_ENST00000533751.1_Missense_Mutation_p.E358K|MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Missense_Mutation_p.E141K	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	715	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCCTCCCTCTCGGGCATTGAT	0.393																																						uc003wwd.1		NaN																	0				ovary(1)	1						c.(2143-2145)GAG>AAG		LON peptidase N-terminal domain and ring finger		C	LYS/GLU	2,3654		0,2,1826	98.0	95.0	96.0		2143	4.6	1.0	8		96	0,8170		0,0,4085	no	missense	LONRF1	NM_152271.3	56	0,2,5911	TT,TC,CC		0.0,0.0547,0.0169	benign	715/774	12583256	2,11824	1828	4085	5913	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12583256C>T	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2143G>A	8.37:g.12583256C>T	ENSP00000381298:p.Glu715Lys					LONRF1_uc011kxv.1_Missense_Mutation_p.E304K|LONRF1_uc010lsp.1_Missense_Mutation_p.E315K	p.E715K	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	11	2206	-			715			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.2143G>A	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390153	0.62066	5.47E-4	0.0	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.45	4.57	0.56435	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.198827	0.51477	D	0.000084	T	0.43166	0.1235	M	0.65975	2.015	0.58432	D	0.999991	B;B	0.31227	0.268;0.314	B;B	0.36666	0.147;0.23	T	0.30995	-0.9959	10	0.09084	T	0.74	-5.6013	15.0098	0.71542	0.0:0.9307:0.0:0.0693	.	704;715	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	K	715;141;358;318	ENSP00000381298:E715K;ENSP00000436770:E141K;ENSP00000432130:E358K;ENSP00000433327:E318K	ENSP00000381298:E715K	E	-	1	0	LONRF1	12627627	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.581000	0.60949	1.627000	0.50400	0.655000	0.94253	GAG		0.393	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2		NM_152271		22	39	0	0	0	1	0	22	39		
DUSP4	1846	broad.mit.edu	37	8	29197718	29197718	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:29197718G>C	ENST00000240100.2	-	2	865	c.476C>G	c.(475-477)tCt>tGt	p.S159C	DUSP4_ENST00000240101.2_Missense_Mutation_p.S68C	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	159	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CTTGGTTTTAGAACAGAATTC	0.572											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xhm.2		NaN																	0				lung(1)	1						c.(475-477)TCT>TGT		dual specificity phosphatase 4 isoform 1							24.0	30.0	28.0					8																	29197718		2203	4300	6503	SO:0001583	missense	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29197718G>C	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.476C>G	8.37:g.29197718G>C	ENSP00000240100:p.Ser159Cys		OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	807	DUSP4_uc003xhl.2_Missense_Mutation_p.S68C	p.S159C	NM_001394	NP_001385	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	2	866	-			159			Rhodanese.		B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.476C>G	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.264879	0.80358	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	T;T	0.45276	0.9;3.93	5.01	5.01	0.66863	Rhodanese-like (3);	0.317981	0.35585	N	0.003108	T	0.45357	0.1338	L	0.43152	1.355	0.30993	N	0.721142	P;B	0.40875	0.731;0.14	P;B	0.46685	0.524;0.049	T	0.48422	-0.9037	10	0.38643	T	0.18	.	16.6444	0.85173	0.0:0.0:1.0:0.0	.	159;68	Q13115;G5E930	DUS4_HUMAN;.	C	159;68	ENSP00000240100:S159C;ENSP00000240101:S68C	ENSP00000240100:S159C	S	-	2	0	DUSP4	29253637	0.368000	0.25031	1.000000	0.80357	0.991000	0.79684	2.922000	0.48860	2.720000	0.93068	0.650000	0.86243	TCT		0.572	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1		NM_001394		11	5	0	0	0	1	0	11	5		
GTF2E2	2961	broad.mit.edu	37	8	30464631	30464631	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:30464631C>T	ENST00000355904.4	-	6	868	c.586G>A	c.(586-588)Gat>Aat	p.D196N	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	196					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTCTTCTTATCGGGACGATTT	0.308																																						uc003xig.2		NaN																	0					0						c.(586-588)GAT>AAT		general transcription factor IIE, polypeptide 2,							60.0	65.0	63.0					8																	30464631		2203	4297	6500	SO:0001583	missense	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30464631C>T	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.586G>A	8.37:g.30464631C>T	ENSP00000348168:p.Asp196Asn						p.D196N	NM_002095	NP_002086	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	6	839	-			196					D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	c.586G>A	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422137	0.96111	.	.	ENSG00000197265	ENST00000355904;ENST00000518599	T;T	0.34275	1.37;1.41	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.70903	2.155	0.80722	D	1	D	0.67145	0.996	P	0.54856	0.762	T	0.44605	-0.9317	10	0.30078	T	0.28	-18.2854	17.3973	0.87449	0.0:1.0:0.0:0.0	.	196	P29084	T2EB_HUMAN	N	196	ENSP00000348168:D196N;ENSP00000429921:D196N	ENSP00000348168:D196N	D	-	1	0	GTF2E2	30584173	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.698000	0.84413	2.712000	0.92718	0.650000	0.86243	GAT		0.308	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2		NM_002095		23	16	0	0	0	1	0	23	16		
PRKDC	5591	broad.mit.edu	37	8	48749802	48749802	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:48749802C>T	ENST00000314191.2	-	58	7785	c.7729G>A	c.(7729-7731)Gag>Aag	p.E2577K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E2577K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2578	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGAGGATGCTCGAACATGGGG	0.373								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(7732-7734)GAG>AAG	NHEJ	protein kinase, DNA-activated, catalytic							79.0	77.0	78.0					8																	48749802		1853	4101	5954	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48749802C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7729G>A	8.37:g.48749802C>T	ENSP00000313420:p.Glu2577Lys					PRKDC_uc003xqj.2_Missense_Mutation_p.E2578K|PRKDC_uc011ldh.1_Intron	p.E2578K	NM_006904	NP_008835	P78527	PRKDC_HUMAN			58	7789	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2578			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7732G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.604276	0.87157	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02837	4.21;4.14	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	M	0.82923	2.615	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.48030	0.558;0.564	T	0.00451	-1.1731	10	0.66056	D	0.02	.	19.0231	0.92922	0.0:1.0:0.0:0.0	.	2577;2578	E7EUY0;P78527	.;PRKDC_HUMAN	K	2577	ENSP00000313420:E2577K;ENSP00000345182:E2577K	ENSP00000313420:E2577K	E	-	1	0	PRKDC	48912355	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.487000	0.81328	2.735000	0.93741	0.591000	0.81541	GAG		0.373	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		6	16	0	0	0	1	0	6	16		
NPBWR1	2831	broad.mit.edu	37	8	53853373	53853373	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:53853373C>T	ENST00000331251.3	+	1	2383	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	302					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACAGCTGCCTCAACCCCTTCC	0.652																																						uc011ldu.1		NaN																	0				ovary(2)|breast(1)	3						c.(904-906)CTC>CTT		G protein-coupled receptor 7							49.0	45.0	46.0					8																	53853373		2203	4300	6503	SO:0001819	synonymous_variant	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853373C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.906C>T	8.37:g.53853373C>T							p.L302L	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	906	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	302			Cytoplasmic (Potential).		Q6NTC7	Silent	SNP	ENST00000331251.3	37	c.906C>T	CCDS6151.1																																																																																				0.652	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1		NM_005285		12	35	0	0	0	1	0	12	35		
TGS1	96764	broad.mit.edu	37	8	56699306	56699306	+	Missense_Mutation	SNP	C	C	A	rs146870824		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:56699306C>A	ENST00000260129.5	+	4	1326	c.849C>A	c.(847-849)aaC>aaA	p.N283K		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	283					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATGACAAGAACGATGAAAAAT	0.368																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(847-849)AAC>AAA		trimethylguanosine synthase homolog							119.0	114.0	116.0					8																	56699306		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699306C>A	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.849C>A	8.37:g.56699306C>A	ENSP00000260129:p.Asn283Lys					TGS1_uc010lyh.2_Missense_Mutation_p.N187K	p.N283K	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1236	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	283					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.849C>A	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.964410	0.00461	.	.	ENSG00000137574	ENST00000260129	T	0.08984	3.03	5.79	-0.617	0.11579	.	0.644709	0.15449	N	0.261787	T	0.02418	0.0074	N	0.02736	-0.51	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45396	-0.9264	10	0.02654	T	1	-3.3898	7.2358	0.26070	0.4782:0.2156:0.0:0.3062	.	283;283	B2RBJ7;Q96RS0	.;TGS1_HUMAN	K	283	ENSP00000260129:N283K	ENSP00000260129:N283K	N	+	3	2	TGS1	56861860	0.000000	0.05858	0.006000	0.13384	0.092000	0.18411	0.553000	0.23391	-0.339000	0.08401	-0.264000	0.10439	AAC		0.368	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1		NM_024831		50	95	1	0	1.86633e-21	1	1.96298e-21	50	95		
IMPAD1	54928	broad.mit.edu	37	8	57905976	57905976	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:57905976C>T	ENST00000262644.4	-	1	427	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	57					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTGCCCCCATcggccgcggcc	0.746																																						uc003xte.3		NaN																	0				ovary(1)	1						c.(169-171)GAT>AAT		inositol monophosphatase domain containing 1							8.0	9.0	8.0					8																	57905976		2143	4209	6352	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57905976C>T		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.169G>A	8.37:g.57905976C>T	ENSP00000262644:p.Asp57Asn						p.D57N	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			1	452	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	57					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.169G>A	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	C	6.923	0.539896	0.13250	.	.	ENSG00000104331	ENST00000262644	D	0.82433	-1.61	4.19	2.36	0.29203	.	0.555500	0.18764	N	0.131815	T	0.60637	0.2284	N	0.08118	0	0.20926	N	0.999825	B	0.20550	0.046	B	0.12156	0.007	T	0.44467	-0.9326	10	0.15499	T	0.54	-5.8579	5.8166	0.18495	0.0:0.696:0.197:0.107	.	57	Q9NX62	IMPA3_HUMAN	N	57	ENSP00000262644:D57N	ENSP00000262644:D57N	D	-	1	0	IMPAD1	58068530	0.810000	0.29049	0.195000	0.23364	0.020000	0.10135	1.741000	0.38238	0.518000	0.28383	0.555000	0.69702	GAT		0.746	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1		NM_017813		6	8	0	0	0	1	0	6	8		
TOX	9760	broad.mit.edu	37	8	59720693	59720693	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:59720693C>T	ENST00000361421.1	-	8	1748	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	510						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTGCAGTAGTCGTTATTCCAG	0.537											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(1528-1530)GAC>AAC		thymus high mobility group box protein TOX							91.0	87.0	89.0					8																	59720693		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59720693C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1528G>A	8.37:g.59720693C>T	ENSP00000354842:p.Asp510Asn		OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1040		p.D510N	NM_014729	NP_055544	O94900	TOX_HUMAN			8	1749	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	510					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.1528G>A	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837500	0.91117	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.14516	2.5	6.07	6.07	0.98685	.	0.053830	0.64402	D	0.000001	T	0.33440	0.0863	L	0.48642	1.525	0.58432	D	0.999991	D	0.76494	0.999	D	0.72625	0.978	T	0.00090	-1.2086	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	510	O94900	TOX_HUMAN	N	510;260	ENSP00000354842:D510N	.	D	-	1	0	TOX	59883247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.297000	0.72757	2.885000	0.99019	0.655000	0.94253	GAC		0.537	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1		NM_014729		21	43	0	0	0	1	0	21	43		
RRS1	23212	broad.mit.edu	37	8	67342183	67342183	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:67342183C>T	ENST00000320270.2	+	1	921	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	ADHFE1_ENST00000379385.4_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000396623.3_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	273					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGAGCTGCTTCGTGTCATGAA	0.557																																						uc003xwa.2		NaN																	0					0						c.(817-819)CGT>TGT		homolog of yeast ribosome biogenesis regulatory							26.0	31.0	29.0					8																	67342183		2203	4300	6503	SO:0001583	missense	23212				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus		g.chr8:67342183C>T	BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.817C>T	8.37:g.67342183C>T	ENSP00000322396:p.Arg273Cys					ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	p.R273C	NM_015169	NP_055984	Q15050	RRS1_HUMAN	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	921	+		Lung NSC(129;0.197)	273					Q9BUX8	Missense_Mutation	SNP	ENST00000320270.2	37	c.817C>T	CCDS6189.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.486862	0.44249	.	.	ENSG00000179041	ENST00000320270	D	0.86497	-2.13	5.26	3.33	0.38152	.	0.132508	0.48286	D	0.000193	D	0.88676	0.6501	L	0.47716	1.5	0.49915	D	0.999839	D	0.76494	0.999	P	0.58391	0.838	D	0.89186	0.3547	10	0.62326	D	0.03	-4.8295	12.8419	0.57809	0.3984:0.6016:0.0:0.0	.	273	Q15050	RRS1_HUMAN	C	273	ENSP00000322396:R273C	ENSP00000322396:R273C	R	+	1	0	RRS1	67504737	1.000000	0.71417	0.998000	0.56505	0.454000	0.32378	1.181000	0.32017	1.343000	0.45638	0.650000	0.86243	CGT		0.557	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1		NM_015169		14	25	0	0	0	1	0	14	25		
RDH10	157506	broad.mit.edu	37	8	74231361	74231361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:74231361G>C	ENST00000240285.5	+	3	1234	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.E21Q|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	186					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TACGATGCTGGAGATTAATCA	0.383																																						uc003xzi.2		NaN																	0					0						c.(556-558)GAG>CAG		retinol dehydrogenase 10							241.0	218.0	226.0					8																	74231361		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74231361G>C	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.556G>C	8.37:g.74231361G>C	ENSP00000240285:p.Glu186Gln					RDH10_uc003xzj.2_Missense_Mutation_p.E21Q|uc003xzk.1_Intron	p.E186Q	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		3	816	+	Breast(64;0.0954)		186						Missense_Mutation	SNP	ENST00000240285.5	37	c.556G>C	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275604	0.59649	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;T	0.90069	-2.61;-2.61;0.61	5.42	4.54	0.55810	NAD(P)-binding domain (1);	0.047604	0.85682	D	0.000000	D	0.84524	0.5491	L	0.41236	1.265	0.80722	D	1	P	0.40731	0.728	B	0.39660	0.306	D	0.83611	0.0134	10	0.36615	T	0.2	.	13.8391	0.63428	0.0723:0.0:0.9277:0.0	.	186	Q8IZV5	RDH10_HUMAN	Q	186;21;21	ENSP00000240285:E186Q;ENSP00000429727:E21Q;ENSP00000428132:E21Q	ENSP00000240285:E186Q	E	+	1	0	RDH10	74393915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.463000	0.97652	1.523000	0.49018	0.650000	0.86243	GAG		0.383	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1				45	78	0	0	0	1	0	45	78		
LRRCC1	85444	broad.mit.edu	37	8	86048162	86048162	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:86048162G>C	ENST00000360375.3	+	14	2442	c.2293G>C	c.(2293-2295)Gaa>Caa	p.E765Q	LRRCC1_ENST00000414626.2_Missense_Mutation_p.E745Q	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	765					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTTAAGGACAGAAAGAAAAGT	0.363																																						uc003ycw.2		NaN																	0					0						c.(2293-2295)GAA>CAA		sodium channel associated protein 2 isoform a							98.0	98.0	98.0					8																	86048162		1843	4092	5935	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86048162G>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2293G>C	8.37:g.86048162G>C	ENSP00000353538:p.Glu765Gln					LRRCC1_uc010maa.1_Missense_Mutation_p.E466Q|LRRCC1_uc003ycx.2_Missense_Mutation_p.E672Q|LRRCC1_uc003ycy.2_Missense_Mutation_p.E745Q	p.E765Q	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			14	2447	+			765					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2293G>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852343	0.91355	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.57107	0.42;0.43	6.01	6.01	0.97437	.	0.000000	0.41938	D	0.000799	T	0.72309	0.3444	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.998	D;P;D;D	0.87578	0.998;0.847;0.998;0.93	T	0.66578	-0.5888	10	0.33940	T	0.23	-29.0675	20.1315	0.98000	0.0:0.0:1.0:0.0	.	672;745;672;765	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	Q	765;745	ENSP00000353538:E765Q;ENSP00000394695:E745Q	ENSP00000353538:E765Q	E	+	1	0	LRRCC1	86235414	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.433000	0.73404	2.861000	0.98227	0.650000	0.86243	GAA		0.363	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402		20	34	0	0	0	1	0	20	34		
RAD54B	25788	broad.mit.edu	37	8	95419768	95419768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:95419768C>T	ENST00000336148.5	-	5	804	c.680G>A	c.(679-681)tGt>tAt	p.C227Y		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	227					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTTAGAGAAACATTTCCTGGC	0.428								Direct reversal of damage;Homologous recombination																														uc003ygk.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(679-681)TGT>TAT	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							100.0	99.0	99.0					8																	95419768		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95419768C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.680G>A	8.37:g.95419768C>T	ENSP00000336606:p.Cys227Tyr					RAD54B_uc010may.1_Missense_Mutation_p.C34Y|RAD54B_uc003ygl.1_RNA	p.C227Y	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		5	778	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.680G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481577	0.26598	.	.	ENSG00000197275	ENST00000336148	D	0.88354	-2.37	6.02	2.05	0.26809	.	0.450630	0.26196	N	0.025776	D	0.83394	0.5245	L	0.46157	1.445	0.80722	D	1	B	0.19331	0.035	B	0.23574	0.047	T	0.76705	-0.2861	10	0.59425	D	0.04	-13.3862	7.4889	0.27449	0.0:0.3068:0.4519:0.2413	.	227	Q9Y620	RA54B_HUMAN	Y	227	ENSP00000336606:C227Y	ENSP00000336606:C227Y	C	-	2	0	RAD54B	95488944	0.998000	0.40836	0.846000	0.33378	0.424000	0.31475	0.458000	0.21892	0.404000	0.25506	-0.145000	0.13849	TGT		0.428	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3		NM_012415		27	53	0	0	0	1	0	27	53		
OSR2	116039	broad.mit.edu	37	8	99961579	99961579	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:99961579G>C	ENST00000297565.4	+	2	895	c.399G>C	c.(397-399)atG>atC	p.M133I	OSR2_ENST00000457907.2_Missense_Mutation_p.M254I|OSR2_ENST00000522510.1_Missense_Mutation_p.M133I|OSR2_ENST00000435298.2_Missense_Mutation_p.M133I|OSR2_ENST00000523368.1_Missense_Mutation_p.M133I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	133					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CGCCTAAGATGGGAGACCTGA	0.612																																						uc003yir.2		NaN																	0				central_nervous_system(1)	1						c.(397-399)ATG>ATC		odd-skipped related 2 isoform a							89.0	98.0	95.0					8																	99961579		1936	4139	6075	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961579G>C	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.399G>C	8.37:g.99961579G>C	ENSP00000297565:p.Met133Ile					OSR2_uc010mbn.2_Missense_Mutation_p.M133I|OSR2_uc003yiq.2_Missense_Mutation_p.M133I|OSR2_uc011lgx.1_Missense_Mutation_p.M254I	p.M133I	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	934	+	Breast(36;4.14e-07)		133					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.399G>C	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	5.312	0.242895	0.10077	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.07327	3.31;3.29;3.52;3.29;3.2;3.42;3.54	4.35	-1.06	0.10002	.	0.479499	0.25540	N	0.029976	T	0.04092	0.0114	N	0.24115	0.695	0.27181	N	0.960666	B;B;B;B	0.22211	0.066;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.0;0.0;0.0	T	0.39643	-0.9604	9	.	.	.	-2.4457	5.5274	0.16964	0.4183:0.1327:0.4491:0.0	.	254;133;133;133	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	I	133;133;133;133;254;186;133	ENSP00000430041:M133I;ENSP00000297565:M133I;ENSP00000402862:M133I;ENSP00000430780:M133I;ENSP00000414657:M254I;ENSP00000430074:M186I;ENSP00000429910:M133I	.	M	+	3	0	OSR2	100030755	0.086000	0.21541	0.958000	0.39756	0.307000	0.27823	-0.179000	0.09768	-0.194000	0.10399	-0.345000	0.07892	ATG		0.612	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1		NM_053001		48	103	0	0	0	1	0	48	103		
FAM83H	286077	broad.mit.edu	37	8	144810877	144810877	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144810877C>G	ENST00000388913.3	-	5	879	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	252					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGATCTTCTCAAAGGACCAC	0.657																																						uc003yzk.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(754-756)GAG>CAG		FAM83H							24.0	28.0	27.0					8																	144810877		2087	4209	6296	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810877C>G	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.754G>C	8.37:g.144810877C>G	ENSP00000373565:p.Glu252Gln					FAM83H_uc010mfk.1_5'Flank	p.E252Q	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	823	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		252					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.754G>C	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	23.3	4.405624	0.83230	.	.	ENSG00000180921	ENST00000388913	T	0.13657	2.57	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.54323	1.7	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.03051	-1.1078	10	0.52906	T	0.07	.	17.0716	0.86576	0.0:1.0:0.0:0.0	.	252	Q6ZRV2	FA83H_HUMAN	Q	252	ENSP00000373565:E252Q	ENSP00000373565:E252Q	E	-	1	0	FAM83H	144882865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.597000	0.82733	2.326000	0.78906	0.561000	0.74099	GAG		0.657	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		13	28	0	0	0	1	0	13	28		
PLEC	5339	broad.mit.edu	37	8	144995372	144995372	+	Missense_Mutation	SNP	C	C	G	rs377748878		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995372C>G	ENST00000322810.4	-	32	9197	c.9028G>C	c.(9028-9030)Gag>Cag	p.E3010Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E2896Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2859Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2900Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2873Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2841Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2877Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2873Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2851Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3010	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGGGTCCTCCACGCAGCGC	0.647																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9028-9030)GAG>CAG		plectin isoform 1							59.0	69.0	65.0					8																	144995372		2198	4287	6485	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995372C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9028G>C	8.37:g.144995372C>G	ENSP00000323856:p.Glu3010Gln					PLEC_uc003zab.1_Missense_Mutation_p.E2873Q|PLEC_uc003zac.1_Missense_Mutation_p.E2877Q|PLEC_uc003zad.2_Missense_Mutation_p.E2873Q|PLEC_uc003zae.1_Missense_Mutation_p.E2841Q|PLEC_uc003zag.1_Missense_Mutation_p.E2851Q|PLEC_uc003zah.2_Missense_Mutation_p.E2859Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2900Q	p.E3010Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9198	-			3010			Globular 2.|Plectin 5.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9028G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292334	0.10567	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.99	-2.13	0.07144	.	1.544930	0.04573	U	0.393591	T	0.45637	0.1352	N	0.16656	0.425	0.09310	N	0.999998	B;B;B;B;B;B;B;B	0.23806	0.027;0.091;0.027;0.016;0.027;0.027;0.027;0.027	B;B;B;B;B;B;B;B	0.15870	0.014;0.014;0.014;0.006;0.014;0.014;0.014;0.014	T	0.21109	-1.0255	10	0.14656	T	0.56	.	8.0229	0.30419	0.101:0.3633:0.4641:0.0716	.	2900;2859;2851;3010;2841;2873;2877;2873	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2873;2877;2873;2841;3010;2851;2859;2900;2896	ENSP00000344848:E2873Q;ENSP00000350277:E2877Q;ENSP00000346602:E2873Q;ENSP00000381756:E2841Q;ENSP00000323856:E3010Q;ENSP00000347044:E2851Q;ENSP00000348702:E2859Q;ENSP00000388180:E2900Q;ENSP00000434583:E2896Q	ENSP00000323856:E3010Q	E	-	1	0	PLEC	145067360	0.000000	0.05858	0.090000	0.20809	0.469000	0.32828	-0.154000	0.10130	-0.063000	0.13065	0.462000	0.41574	GAG		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		41	76	0	0	0	1	0	41	76		
PLEC	5339	broad.mit.edu	37	8	144995411	144995411	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995411C>T	ENST00000322810.4	-	32	9158	c.8989G>A	c.(8989-8991)Gag>Aag	p.E2997K	PLEC_ENST00000527096.1_Missense_Mutation_p.E2883K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2846K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2887K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2860K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2828K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2864K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2860K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2838K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2997	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGAGGTTCTCGTGCGTGTTG	0.657																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8989-8991)GAG>AAG		plectin isoform 1							80.0	90.0	87.0					8																	144995411		2149	4259	6408	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995411C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8989G>A	8.37:g.144995411C>T	ENSP00000323856:p.Glu2997Lys					PLEC_uc003zab.1_Missense_Mutation_p.E2860K|PLEC_uc003zac.1_Missense_Mutation_p.E2864K|PLEC_uc003zad.2_Missense_Mutation_p.E2860K|PLEC_uc003zae.1_Missense_Mutation_p.E2828K|PLEC_uc003zag.1_Missense_Mutation_p.E2838K|PLEC_uc003zah.2_Missense_Mutation_p.E2846K|PLEC_uc003zaj.2_Missense_Mutation_p.E2887K	p.E2997K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9159	-			2997			Globular 2.|Plectin 5.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8989G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415333	0.42817	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	4.95	4.08	0.47627	.	0.083560	0.46145	U	0.000318	T	0.69142	0.3078	M	0.86502	2.82	0.58432	D	0.999993	D;D;D;P;D;D;D;D	0.53619	0.961;0.961;0.961;0.934;0.961;0.961;0.961;0.961	B;B;B;B;B;B;B;B	0.35770	0.21;0.21;0.21;0.104;0.21;0.21;0.21;0.21	T	0.73026	-0.4112	10	0.30854	T	0.27	.	13.3673	0.60692	0.0:0.9219:0.0:0.0781	.	2887;2846;2838;2997;2828;2860;2864;2860	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2860;2864;2860;2828;2997;2838;2846;2887;2883	ENSP00000344848:E2860K;ENSP00000350277:E2864K;ENSP00000346602:E2860K;ENSP00000381756:E2828K;ENSP00000323856:E2997K;ENSP00000347044:E2838K;ENSP00000348702:E2846K;ENSP00000388180:E2887K;ENSP00000434583:E2883K	ENSP00000323856:E2997K	E	-	1	0	PLEC	145067399	1.000000	0.71417	0.998000	0.56505	0.644000	0.38419	7.673000	0.83973	1.242000	0.43836	0.456000	0.33151	GAG		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		45	81	0	0	0	1	0	45	81		
PLEC	5339	broad.mit.edu	37	8	144995865	144995865	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995865C>G	ENST00000322810.4	-	32	8704	c.8535G>C	c.(8533-8535)gaG>gaC	p.E2845D	PLEC_ENST00000527096.1_Missense_Mutation_p.E2731D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2694D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2735D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2708D|PLEC_ENST00000398774.2_Missense_Mutation_p.E2676D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2712D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2708D|PLEC_ENST00000354958.2_Missense_Mutation_p.E2686D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2845	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACTCAGCTTCTCATTGGTGG	0.672																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8533-8535)GAG>GAC		plectin isoform 1							42.0	47.0	45.0					8																	144995865		2173	4265	6438	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995865C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8535G>C	8.37:g.144995865C>G	ENSP00000323856:p.Glu2845Asp					PLEC_uc003zab.1_Missense_Mutation_p.E2708D|PLEC_uc003zac.1_Missense_Mutation_p.E2712D|PLEC_uc003zad.2_Missense_Mutation_p.E2708D|PLEC_uc003zae.1_Missense_Mutation_p.E2676D|PLEC_uc003zag.1_Missense_Mutation_p.E2686D|PLEC_uc003zah.2_Missense_Mutation_p.E2694D|PLEC_uc003zaj.2_Missense_Mutation_p.E2735D	p.E2845D	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8705	-			2845			Plectin 1.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8535G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.984	0.365579	0.11352	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.07	3.18	0.36537	.	0.313895	0.23979	U	0.042693	T	0.74619	0.3740	M	0.66439	2.03	0.31382	N	0.678929	B;B;B;B;B;B;B;B	0.15719	0.011;0.011;0.011;0.014;0.011;0.011;0.011;0.011	B;B;B;B;B;B;B;B	0.19666	0.015;0.015;0.015;0.026;0.015;0.015;0.015;0.015	T	0.75522	-0.3288	10	0.59425	D	0.04	.	11.3551	0.49611	0.0:0.9092:0.0:0.0908	.	2735;2694;2686;2845;2676;2708;2712;2708	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	2708;2712;2708;2676;2845;2686;2694;2735;2731	ENSP00000344848:E2708D;ENSP00000350277:E2712D;ENSP00000346602:E2708D;ENSP00000381756:E2676D;ENSP00000323856:E2845D;ENSP00000347044:E2686D;ENSP00000348702:E2694D;ENSP00000388180:E2735D;ENSP00000434583:E2731D	ENSP00000323856:E2845D	E	-	3	2	PLEC	145067853	1.000000	0.71417	0.989000	0.46669	0.361000	0.29550	1.132000	0.31418	1.069000	0.40788	0.442000	0.29010	GAG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		20	39	0	0	0	1	0	20	39		
PLEC	5339	broad.mit.edu	37	8	144996723	144996723	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144996723C>G	ENST00000322810.4	-	31	7954	c.7785G>C	c.(7783-7785)gaG>gaC	p.E2595D	PLEC_ENST00000527096.1_Missense_Mutation_p.E2481D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2444D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2485D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2458D|PLEC_ENST00000398774.2_Missense_Mutation_p.E2426D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2462D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2458D|PLEC_ENST00000354958.2_Missense_Mutation_p.E2436D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2595	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTTCTCCTTCTCACGCTCCA	0.637																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7783-7785)GAG>GAC		plectin isoform 1							37.0	41.0	40.0					8																	144996723		2118	4231	6349	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996723C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7785G>C	8.37:g.144996723C>G	ENSP00000323856:p.Glu2595Asp					PLEC_uc003zab.1_Missense_Mutation_p.E2458D|PLEC_uc003zac.1_Missense_Mutation_p.E2462D|PLEC_uc003zad.2_Missense_Mutation_p.E2458D|PLEC_uc003zae.1_Missense_Mutation_p.E2426D|PLEC_uc003zag.1_Missense_Mutation_p.E2436D|PLEC_uc003zah.2_Missense_Mutation_p.E2444D|PLEC_uc003zaj.2_Missense_Mutation_p.E2485D	p.E2595D	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7955	-			2595			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7785G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733197	0.48939	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.91180	-2.77;-2.77;-2.8;-2.79;-2.75;-2.75;-2.74;-2.76;-2.76	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000006	D	0.92854	0.7727	L	0.48642	1.525	0.48762	D	0.999702	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.996;0.991;0.996;0.996;0.996;0.996	D	0.90595	0.4540	10	0.20519	T	0.43	.	16.8143	0.85729	0.0:1.0:0.0:0.0	.	2485;2444;2436;2595;2426;2458;2462;2458	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	2458;2462;2458;2426;2595;2436;2444;2485;2481	ENSP00000344848:E2458D;ENSP00000350277:E2462D;ENSP00000346602:E2458D;ENSP00000381756:E2426D;ENSP00000323856:E2595D;ENSP00000347044:E2436D;ENSP00000348702:E2444D;ENSP00000388180:E2485D;ENSP00000434583:E2481D	ENSP00000323856:E2595D	E	-	3	2	PLEC	145068711	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.537000	0.53590	2.309000	0.77851	0.448000	0.29417	GAG		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		9	19	0	0	0	1	0	9	19		
PLEC	5339	broad.mit.edu	37	8	144997295	144997295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144997295C>A	ENST00000322810.4	-	31	7382	c.7213G>T	c.(7213-7215)Gag>Tag	p.E2405*	PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2291*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2254*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2295*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2268*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2236*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2272*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2268*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2246*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2405	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAGCCTCCTCCTGCAGGAAG	0.642																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7213-7215)GAG>TAG		plectin isoform 1							22.0	23.0	22.0					8																	144997295		2197	4294	6491	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997295C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7213G>T	8.37:g.144997295C>A	ENSP00000323856:p.Glu2405*					PLEC_uc003zab.1_Nonsense_Mutation_p.E2268*|PLEC_uc003zac.1_Nonsense_Mutation_p.E2272*|PLEC_uc003zad.2_Nonsense_Mutation_p.E2268*|PLEC_uc003zae.1_Nonsense_Mutation_p.E2236*|PLEC_uc003zag.1_Nonsense_Mutation_p.E2246*|PLEC_uc003zah.2_Nonsense_Mutation_p.E2254*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E2295*	p.E2405*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7383	-			2405			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.7213G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	49	14.996236	0.99818	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.8139	0.88625	0.0:1.0:0.0:0.0	.	.	.	.	X	2268;2272;2268;2236;2405;2246;2254;2295;2291	.	ENSP00000323856:E2405X	E	-	1	0	PLEC	145069283	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.732000	0.62029	2.312000	0.78011	0.549000	0.68633	GAG		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		9	21	1	0	3.07112e-06	1	3.13499e-06	9	21		
PPP1R16A	84988	broad.mit.edu	37	8	145726105	145726105	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:145726105G>T	ENST00000292539.4	+	8	1785	c.868G>T	c.(868-870)Gac>Tac	p.D290Y	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.D290Y|CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	290						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACGGGGCCGACCTGAACGC	0.721																																						uc003zdd.2		NaN																	0					0						c.(868-870)GAC>TAC		protein phosphatase 1, regulatory (inhibitor)							18.0	22.0	21.0					8																	145726105		2197	4290	6487	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145726105G>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.868G>T	8.37:g.145726105G>T	ENSP00000292539:p.Asp290Tyr					uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.D290Y|GPT_uc011lli.1_5'Flank	p.D290Y	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		8	1781	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		290			ANK 5.		D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.868G>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	g	15.13	2.742837	0.49151	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.60797	0.16;0.16	4.85	3.98	0.46160	Ankyrin repeat-containing domain (4);	0.165492	0.52532	D	0.000062	T	0.71324	0.3326	M	0.78637	2.42	0.50813	D	0.999898	D	0.62365	0.991	D	0.67900	0.954	T	0.72629	-0.4235	10	0.87932	D	0	.	7.5477	0.27777	0.1972:0.0:0.8028:0.0	.	290	Q96I34	PP16A_HUMAN	Y	290	ENSP00000292539:D290Y;ENSP00000391126:D290Y	ENSP00000292539:D290Y	D	+	1	0	PPP1R16A	145696913	0.307000	0.24500	0.911000	0.35937	0.353000	0.29299	3.468000	0.53086	1.033000	0.39918	-0.414000	0.06135	GAC		0.721	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1		NM_032902		9	8	1	0	3.09899e-07	1	3.17444e-07	9	8		
SMARCA2	6595	broad.mit.edu	37	9	2115859	2115859	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:2115859A>C	ENST00000382203.1	+	25	3703	c.3494A>C	c.(3493-3495)cAg>cCg	p.Q1165P	SMARCA2_ENST00000349721.2_Missense_Mutation_p.Q1165P|SMARCA2_ENST00000382194.1_Missense_Mutation_p.Q1165P|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Q1165P			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1165	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGCATCGGGCAGCAGAACGAG	0.562																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3493-3495)CAG>CCG		SWI/SNF-related matrix-associated							35.0	33.0	34.0					9																	2115859		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2115859A>C	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3494A>C	9.37:g.2115859A>C	ENSP00000371638:p.Gln1165Pro					SMARCA2_uc003zhd.2_Missense_Mutation_p.Q1165P|SMARCA2_uc010mha.2_Missense_Mutation_p.Q1098P	p.Q1165P	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	25	3593	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1165			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3494A>C	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728707	0.69074	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.67	5.67	0.87782	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	H	0.99758	4.755	0.80722	D	1	B;D;D	0.64830	0.046;0.994;0.99	B;D;D	0.75484	0.078;0.986;0.969	D	0.97752	1.0215	10	0.87932	D	0	-27.8039	15.9124	0.79482	1.0:0.0:0.0:0.0	.	766;1165;1165	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	P	1165	ENSP00000265773:Q1165P;ENSP00000349788:Q1165P;ENSP00000371638:Q1165P;ENSP00000371629:Q1165P	ENSP00000265773:Q1165P	Q	+	2	0	SMARCA2	2105859	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.339000	0.96797	2.164000	0.68074	0.460000	0.39030	CAG		0.562	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		9	8	0	0	0	1	0	9	8		
ERCC6L2	375748	broad.mit.edu	37	9	98660209	98660209	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:98660209C>T	ENST00000288985.7	+	3	888	c.583C>T	c.(583-585)Cta>Tta	p.L195L	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	195	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AGAGTTTTTACTAAGAAGTAT	0.338																																						uc004avt.3		NaN																	0					0						c.(583-585)CTA>TTA		RAD26L hypothetical protein							91.0	100.0	97.0					9																	98660209		2203	4299	6502	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98660209C>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.583C>T	9.37:g.98660209C>T						C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	p.L195L	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			3	971	+		Acute lymphoblastic leukemia(62;0.0559)	195			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.583C>T	CCDS35072.1																																																																																				0.338	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2		NM_001010895		31	62	0	0	0	1	0	31	62		
CCDC180	100499483	broad.mit.edu	37	9	100092767	100092767	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:100092767C>G	ENST00000357054.1	+	32	3476	c.2541C>G	c.(2539-2541)ttC>ttG	p.F847L	CCDC180_ENST00000529487.1_Missense_Mutation_p.F708L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.F705L|CCDC180_ENST00000375202.2_Missense_Mutation_p.F708L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	847	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGGAGTCCTTCATAACTGAAG	0.463																																						uc011lut.1		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2539-2541)TTC>TTG		hypothetical protein LOC57653							87.0	81.0	83.0					9																	100092767		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100092767C>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2541C>G	9.37:g.100092767C>G	ENSP00000349562:p.Phe847Leu					KIAA1529_uc004axe.1_Missense_Mutation_p.F847L|KIAA1529_uc004axg.1_Missense_Mutation_p.F708L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.F32L|KIAA1529_uc011lus.1_Missense_Mutation_p.F665L|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.F708L|KIAA1529_uc011luv.1_Missense_Mutation_p.F705L	p.F847L	NM_020893	NP_065944					30	3314	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.2541C>G		.	.	.	.	.	.	.	.	.	.	C	2.177	-0.388540	0.04932	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.11063	3.18;3.18;2.81;3.18	3.89	-4.08	0.03963	.	1.365760	0.04691	N	0.414275	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.003	T	0.38972	-0.9636	10	0.23891	T	0.37	3.7767	7.4203	0.27067	0.0:0.3377:0.1202:0.5421	.	731;705;847;708;847	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	L	847;708;705;731;708	ENSP00000349562:F847L;ENSP00000364348:F708L;ENSP00000414000:F705L;ENSP00000434727:F708L	ENSP00000349562:F847L	F	+	3	2	C9orf174	99132588	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.203000	0.09438	-1.411000	0.02032	-1.164000	0.01763	TTC		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893		16	36	0	0	0	1	0	16	36		
TRIM14	9830	broad.mit.edu	37	9	100850218	100850218	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:100850218G>T	ENST00000341469.2	-	6	872	c.863C>A	c.(862-864)aCg>aAg	p.T288K	TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.T69K|TRIM14_ENST00000342043.3_Missense_Mutation_p.T288K|TRIM14_ENST00000375098.3_Missense_Mutation_p.T288K	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	288	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCAGCGCACCGTCAGGCGATC	0.736																																					Colon(14;460 597 13826 51781)	uc004ayd.2		NaN																	0				central_nervous_system(1)	1						c.(862-864)ACG>AAG		tripartite motif protein TRIM14 isoform alpha							5.0	6.0	6.0					9																	100850218		1707	3464	5171	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100850218G>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.863C>A	9.37:g.100850218G>T	ENSP00000344208:p.Thr288Lys					TRIM14_uc004ayf.1_Missense_Mutation_p.T195K|TRIM14_uc011luz.1_Missense_Mutation_p.T66K|TRIM14_uc011lva.1_Missense_Mutation_p.T69K|TRIM14_uc004ayg.1_Missense_Mutation_p.T288K|TRIM14_uc004ayh.1_Missense_Mutation_p.T288K|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.T195K	p.T288K	NM_033220	NP_150089	Q14142	TRI14_HUMAN			6	881	-		Acute lymphoblastic leukemia(62;0.0559)	288			B30.2/SPRY.		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.863C>A	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	0.950	-0.706638	0.03230	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000538344	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	4.22	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.193961	0.34580	N	0.003847	T	0.11153	0.0272	L	0.31065	0.9	0.09310	N	0.999999	P;P;P;P	0.48503	0.911;0.911;0.911;0.911	P;P;P;P	0.51453	0.589;0.589;0.67;0.589	T	0.10109	-1.0644	10	0.07990	T	0.79	.	10.9866	0.47526	0.0:0.0:0.8115:0.1885	.	69;66;288;288	B7ZAZ9;B4E0G2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	K	288;288;288;288;69	ENSP00000364239:T288K;ENSP00000344208:T288K;ENSP00000343990:T288K;ENSP00000445355:T69K	ENSP00000344208:T288K	T	-	2	0	TRIM14	99890039	0.004000	0.15560	0.005000	0.12908	0.020000	0.10135	1.371000	0.34250	0.742000	0.32697	0.305000	0.20034	ACG		0.736	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1		NM_014788		3	8	1	0	0.115264	1	0.115264	3	8		
LCN2	3934	broad.mit.edu	37	9	130911943	130911943	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:130911943G>A	ENST00000373017.1	+	2	375		c.e2+1		LCN2_ENST00000372998.1_Splice_Site|LCN2_ENST00000540948.1_Splice_Site|LCN2_ENST00000373013.2_Splice_Site|LCN2_ENST00000470902.1_Splice_Site|LCN2_ENST00000277480.2_Splice_Site			P80188	NGAL_HUMAN	lipocalin 2						apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGACAACCAAGTAAGGGGCCA	0.637																																						uc004bto.1		NaN																	0					0						c.e1+1		lipocalin 2 precursor							57.0	57.0	57.0					9																	130911943		2203	4300	6503	SO:0001630	splice_region_variant	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130911943G>A		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.138+1G>A	9.37:g.130911943G>A						LCN2_uc010mxq.1_Splice_Site_p.Q46_splice|LCN2_uc011map.1_Splice_Site_p.Q46_splice	p.Q46_splice	NM_005564	NP_005555	P80188	NGAL_HUMAN			1	211	+								A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Splice_Site	SNP	ENST00000373017.1	37	c.138_splice	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978423	0.53720	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7872	0.46411	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LCN2	129951764	1.000000	0.71417	0.622000	0.29159	0.541000	0.35023	4.520000	0.60524	2.235000	0.73313	0.456000	0.33151	.		0.637	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1		NM_005564	Intron	18	33	0	0	0	1	0	18	33		
SPTAN1	6709	broad.mit.edu	37	9	131392643	131392643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:131392643G>A	ENST00000372731.4	+	51	6846	c.6736G>A	c.(6736-6738)Gaa>Aaa	p.E2246K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2251K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2251K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2246					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCCCAGCTTGAAGCTACCAA	0.607																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(6736-6738)GAA>AAA		spectrin, alpha, non-erythrocytic 1							99.0	99.0	99.0					9																	131392643		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131392643G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6736G>A	9.37:g.131392643G>A	ENSP00000361816:p.Glu2246Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E2251K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2226K|SPTAN1_uc004bvo.3_Missense_Mutation_p.E13K|SPTAN1_uc004bvp.3_5'Flank	p.E2246K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			51	6849	+			2246			Spectrin 23.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6736G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160257	0.78226	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.45276	0.9;0.9;0.9	5.66	5.66	0.87406	.	0.101220	0.64402	D	0.000002	T	0.69260	0.3091	M	0.85373	2.75	0.80722	D	1	D;D;D	0.58268	0.982;0.974;0.961	P;D;P	0.67725	0.802;0.953;0.889	T	0.71066	-0.4700	10	0.49607	T	0.09	.	19.7366	0.96208	0.0:0.0:1.0:0.0	.	2226;2251;2246	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	2251;2246;2251;2226	ENSP00000350882:E2251K;ENSP00000361816:E2246K;ENSP00000361824:E2251K	ENSP00000350882:E2251K	E	+	1	0	SPTAN1	130432464	1.000000	0.71417	0.970000	0.41538	0.534000	0.34807	9.168000	0.94781	2.667000	0.90743	0.462000	0.41574	GAA		0.607	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		22	33	0	0	0	1	0	22	33		
ABL1	25	broad.mit.edu	37	9	133759700	133759700	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:133759700G>A	ENST00000318560.5	+	11	2404	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	675					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGCCCTCCGGGAGTCCGGGGG	0.682			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2		NaN		Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(2023-2025)GAG>AAG		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						14.0	17.0	16.0					9																	133759700		2175	4235	6410	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759700G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2023G>A	9.37:g.133759700G>A	ENSP00000323315:p.Glu675Lys					ABL1_uc004bzv.2_Missense_Mutation_p.E694K	p.E675K	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2026	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	675					A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.2023G>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042953	0.36085	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.13778	2.56;2.56	3.43	3.43	0.39272	.	0.000000	0.47852	D	0.000201	T	0.12732	0.0309	L	0.44542	1.39	0.39839	D	0.973088	P;P	0.37330	0.59;0.59	B;B	0.36766	0.232;0.232	T	0.12708	-1.0537	10	0.33940	T	0.23	.	13.1927	0.59719	0.0:0.0:1.0:0.0	.	675;712	P00519;Q59FK4	ABL1_HUMAN;.	K	490;694;675	ENSP00000361423:E694K;ENSP00000323315:E675K	ENSP00000323315:E675K	E	+	1	0	ABL1	132749521	1.000000	0.71417	0.999000	0.59377	0.715000	0.41141	3.054000	0.49908	2.252000	0.74401	0.561000	0.74099	GAG		0.682	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313		20	24	0	0	0	1	0	20	24		
TSC1	7248	broad.mit.edu	37	9	135781455	135781455	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:135781455C>T	ENST00000298552.3	-	15	1731	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	TSC1_ENST00000545250.1_Missense_Mutation_p.D453N|TSC1_ENST00000440111.2_Missense_Mutation_p.D504N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	504					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AAGGGAGAGTCAAAGCCTCCT	0.532			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(1510-1512)GAC>AAC		tuberous sclerosis 1 protein isoform 1							37.0	36.0	36.0					9																	135781455		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135781455C>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1510G>A	9.37:g.135781455C>T	ENSP00000298552:p.Asp504Asn					TSC1_uc004ccb.3_Missense_Mutation_p.D503N|TSC1_uc011mcq.1_Missense_Mutation_p.D453N|TSC1_uc011mcr.1_Intron	p.D504N	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	1744	-			504					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.1510G>A	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328941	0.95733	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.87729	-2.29;-2.29;-2.29	6.05	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91066	0.4889	10	0.48119	T	0.1	-23.0746	14.8665	0.70419	0.0:0.9304:0.0:0.0696	.	453;504	B7Z897;Q92574	.;TSC1_HUMAN	N	504;504;453	ENSP00000298552:D504N;ENSP00000394524:D504N;ENSP00000444017:D453N	ENSP00000298552:D504N	D	-	1	0	TSC1	134771276	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.636000	0.67848	2.878000	0.98634	0.650000	0.86243	GAC		0.532	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				11	23	0	0	0	1	0	11	23		
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330F	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1279-1281)TCC>TTC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	9.37:g.137328351C>T	ENSP00000419692:p.Ser427Phe					RXRA_uc004cfc.1_Missense_Mutation_p.S330F	p.S427F	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1442	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1280C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		25	48	0	0	0	1	0	25	48		
ANAPC2	29882	broad.mit.edu	37	9	140069557	140069557	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:140069557G>A	ENST00000323927.2	-	13	2310	c.2306C>T	c.(2305-2307)tCa>tTa	p.S769L	TMEM210_ENST00000413619.2_5'Flank|ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	769					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACGATCCAGTGAGAGGCTCTC	0.622																																						uc004clr.1		NaN																	0				ovary(1)	1						c.(2305-2307)TCA>TTA		anaphase-promoting complex subunit 2							38.0	35.0	36.0					9																	140069557		2199	4296	6495	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140069557G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2306C>T	9.37:g.140069557G>A	ENSP00000314004:p.Ser769Leu					ANAPC2_uc004clq.1_Missense_Mutation_p.S625L	p.S769L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	13	2379	-	all_cancers(76;0.0926)		769					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.2306C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662722	0.47572	.	.	ENSG00000176248	ENST00000323927	T	0.77620	-1.11	4.11	4.11	0.48088	Winged helix-turn-helix transcription repressor DNA-binding (1);Anaphase-promoting complex subunit 2, C-terminal (1);	0.127501	0.53938	D	0.000055	T	0.70456	0.3226	L	0.43923	1.385	0.49798	D	0.999829	P;P	0.47034	0.889;0.865	B;B	0.40256	0.324;0.217	T	0.76443	-0.2957	10	0.72032	D	0.01	-15.8072	13.8706	0.63617	0.0:0.0:1.0:0.0	.	769;766	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	769	ENSP00000314004:S769L	ENSP00000314004:S769L	S	-	2	0	ANAPC2	139189378	1.000000	0.71417	0.998000	0.56505	0.188000	0.23474	6.817000	0.75252	2.118000	0.64928	0.561000	0.74099	TCA		0.622	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1		NM_013366		3	11	0	0	0	1	0	3	11		
MRPL41	64975	broad.mit.edu	37	9	140446839	140446839	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:140446839G>A	ENST00000371443.5	+	2	1094	c.306G>A	c.(304-306)aaG>aaA	p.K102K	PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|DPH7_ENST00000479650.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	102					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCATCGAAAAGGACTTCAAGG	0.612																																						uc004cnh.3		NaN																	0					0						c.(304-306)AAG>AAA		mitochondrial ribosomal protein L41							40.0	35.0	37.0					9																	140446839		2203	4300	6503	SO:0001819	synonymous_variant	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446839G>A	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.306G>A	9.37:g.140446839G>A						PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	p.K102K	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	436	+	all_cancers(76;0.106)		102					Q96Q49	Silent	SNP	ENST00000371443.5	37	c.306G>A	CCDS7046.1																																																																																				0.612	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1		NM_032477		13	18	0	0	0	1	0	13	18		
NHS	4810	broad.mit.edu	37	X	17746218	17746218	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:17746218C>G	ENST00000380060.3	+	6	4267	c.3929C>G	c.(3928-3930)aCt>aGt	p.T1310S	NHS_ENST00000398097.3_Missense_Mutation_p.T1154S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1331					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GACTCACCAACTAGAGCAACA	0.443																																						uc004cxx.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(3928-3930)ACT>AGT		Nance-Horan syndrome protein isoform 1							103.0	90.0	94.0					X																	17746218		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17746218C>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3929C>G	X.37:g.17746218C>G	ENSP00000369400:p.Thr1310Ser					NHS_uc011mix.1_Missense_Mutation_p.T1331S|NHS_uc004cxy.2_Missense_Mutation_p.T1154S|NHS_uc004cxz.2_Missense_Mutation_p.T1133S|NHS_uc004cya.2_Missense_Mutation_p.T1033S	p.T1310S	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	4267	+	Hepatocellular(33;0.183)		1310					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3929C>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	1.732	-0.494015	0.04322	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.41400	1.0;1.01	5.74	2.98	0.34508	.	0.644401	0.16204	N	0.224804	T	0.24967	0.0606	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.28202	-1.0051	10	0.07482	T	0.82	-0.3546	6.0802	0.19936	0.2624:0.5944:0.0:0.1433	.	1331;1152;1154;1310	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	1310;1154;1152	ENSP00000369400:T1310S;ENSP00000381170:T1154S	ENSP00000369397:T1152S	T	+	2	0	NHS	17656139	0.005000	0.15991	0.003000	0.11579	0.459000	0.32528	1.694000	0.37752	0.578000	0.29487	0.544000	0.68410	ACT		0.443	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		NM_198270		49	20	0	0	0	1	0	49	20		
ZNF182	7569	broad.mit.edu	37	X	47842407	47842407	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:47842407G>A	ENST00000396965.1	-	6	581	c.231C>T	c.(229-231)ctC>ctT	p.L77L	ZNF182_ENST00000376943.3_Silent_p.L58L|ZNF182_ENST00000305127.6_Silent_p.L77L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CCTCCAACTTGAGGATGAGGT	0.463																																						uc004dir.2		NaN																	0				ovary(2)|lung(1)	3						c.(229-231)CTC>CTT		zinc finger protein 21 isoform 1							126.0	99.0	109.0					X																	47842407		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47842407G>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.231C>T	X.37:g.47842407G>A						ZNF182_uc004dis.2_Silent_p.L58L|ZNF182_uc004dit.2_Silent_p.L77L|ZNF182_uc011mlu.1_Silent_p.L58L	p.L77L	NM_006962	NP_008893	P17025	ZN182_HUMAN			6	577	-			77			KRAB.		A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.231C>T	CCDS35236.1																																																																																				0.463	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1		NM_006962		26	4	0	0	0	1	0	26	4		
DGKK	139189	broad.mit.edu	37	X	50213550	50213550	+	RNA	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:50213550G>A	ENST00000376025.2	-	0	187							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAgcagcggcggagccggcgg	0.697																																						uc010njr.1		NaN																	0				ovary(1)|kidney(1)	2						c.(127-129)CCG>CTG		diacylglycerol kinase kappa							13.0	17.0	16.0					X																	50213550		1833	4021	5854			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213550G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213550G>A							p.P43L	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			1	188	-	Ovarian(276;0.236)		43					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.128C>T																																																																																					0.697	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		NM_001013742		20	9	0	0	0	1	0	20	9		
HTATSF1	27336	broad.mit.edu	37	X	135579901	135579901	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:135579901G>A	ENST00000218364.4	+	1	232	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E20K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	20					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GCGAATGCAAGAATTGTACGG	0.557																																						uc004ezw.2		NaN																	0				ovary(2)|breast(1)	3						c.(58-60)GAA>AAA		HIV-1 Tat specific factor 1							155.0	138.0	144.0					X																	135579901		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135579901G>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.58G>A	X.37:g.135579901G>A	ENSP00000218364:p.Glu20Lys					HTATSF1_uc004ezx.2_Missense_Mutation_p.E20K	p.E20K	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			2	480	+	Acute lymphoblastic leukemia(192;0.000127)		20					D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.58G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947745	0.53186	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.26957	1.7;1.7	4.86	3.0	0.34707	.	0.109082	0.64402	D	0.000007	T	0.23249	0.0562	L	0.59436	1.845	0.36219	D	0.851842	B	0.26902	0.163	B	0.19148	0.024	T	0.23297	-1.0192	10	0.72032	D	0.01	-11.6589	8.9203	0.35607	0.0992:0.2616:0.6391:0.0	.	20	O43719	HTSF1_HUMAN	K	20	ENSP00000442699:E20K;ENSP00000218364:E20K	ENSP00000218364:E20K	E	+	1	0	HTATSF1	135407567	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.701000	0.37825	1.055000	0.40461	0.292000	0.19580	GAA		0.557	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1		NM_014500		39	14	0	0	0	1	0	39	14		
FUNDC2	65991	broad.mit.edu	37	X	154282927	154282927	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:154282927C>A	ENST00000369498.3	+	5	804	c.550C>A	c.(550-552)Ctg>Atg	p.L184M	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L184V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448																																						uc004fmw.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(550-552)CTG>ATG		FUN14 domain containing 2							149.0	137.0	141.0					X																	154282927		2203	4300	6503	SO:0001583	missense	65991					mitochondrion		g.chrX:154282927C>A	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.550C>A	X.37:g.154282927C>A	ENSP00000358510:p.Leu184Met						p.L184M	NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN			5	700	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		184					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	ENST00000369498.3	37	c.550C>A	CCDS14763.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658043	0.67586	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.37	4.51	0.55191	.	0.000000	0.64402	U	0.000006	T	0.70622	0.3245	M	0.80508	2.5	0.33174	D	0.548648	D	0.89917	1.0	D	0.91635	0.999	T	0.79176	-0.1911	9	0.59425	D	0.04	.	9.3488	0.38124	0.0:0.8983:0.0:0.1017	.	184	Q9BWH2	FUND2_HUMAN	M	184	.	ENSP00000358510:L184M	L	+	1	2	FUNDC2	153936121	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.166000	0.42406	1.176000	0.42840	0.586000	0.80456	CTG		0.448	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3		NM_023934		51	25	1	0	2.81731e-22	1	2.9685e-22	51	25		
ARID1A	8289	broad.mit.edu	37	1	27056181	27056191	+	Frame_Shift_Del	DEL	CAGCCATATGG	CAGCCATATGG	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			CAGCCATATGG	-	CAGCCATATGG	CAGCCATATGG		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:27056181_27056191delCAGCCATATGG	ENST00000324856.7	+	2	1548_1558	c.1177_1187delCAGCCATATGG	c.(1177-1188)cagccatatggcfs	p.QPYG393fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.QPYG10fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.QPYG393fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	393					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y395*(1)|p.Q393*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGAGACCTCAGCCATATGGCGGGACTAAC	0.545			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		2	Substitution - Nonsense(2)	p.Y395*(1)|p.Q393*(1)	ovary(2)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1177-1188)CAGCCATATGGCfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27056181_27056191delCAGCCATATGG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1177_1187delCAGCCATATGG	1.37:g.27056181_27056191delCAGCCATATGG	ENSP00000320485:p.Gln393fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q393fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q393fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q10fs	p.Q393fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	2	1550_1560	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	393_396					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1177_1187delCAGCCATATGG	CCDS285.1																																																																																				0.545	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		22	65	NaN	NaN	NaN	NaN	NaN	22	65	---	---
IFI44L	10964	broad.mit.edu	37	1	79102839	79102840	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:79102839_79102840insA	ENST00000370751.5	+	6	1178_1179	c.999_1000insA	c.(1000-1002)aaafs	p.K334fs	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Frame_Shift_Ins_p.K76fs	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	334					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATCTCTACTCTAAAATGTTGGC	0.342																																						uc010oro.1		NaN																	0					0						c.(997-1002)TCTAAAfs		interferon-induced protein 44-like																																				SO:0001589	frameshift_variant	10964					cytoplasm		g.chr1:79102839_79102840insA	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1003dupA	1.37:g.79102843_79102843dupA	ENSP00000359787:p.Lys334fs					IFI44L_uc010orp.1_Frame_Shift_Ins_p.S70fs|IFI44L_uc010orq.1_Frame_Shift_Ins_p.S70fs	p.S333fs	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			6	1178_1179	+			333_334					Q86TE1|Q96B64|Q99984	Frame_Shift_Ins	INS	ENST00000370751.5	37	c.999_1000insA	CCDS687.2																																																																																				0.342	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3		NM_006820		21	52	NaN	NaN	NaN	NaN	NaN	21	52	---	---
GPR37L1	9283	broad.mit.edu	37	1	202092266	202092267	+	In_Frame_Ins	INS	-	-	ACA			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:202092266_202092267insACA	ENST00000367282.5	+	1	281_282	c.175_176insACA	c.(175-177)tat>tACAat	p.59_60insN		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	59					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CGTGCAGCAGTATGTGCCTGAG	0.673																																						uc001gxj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(175-177)TAT>TACAAT		G-protein coupled receptor 37 like 1 precursor																																				SO:0001652	inframe_insertion	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092266_202092267insACA	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	Exception_encountered	1.37:g.202092266_202092267insACA	ENSP00000356251:p.Tyr59_Val60insAsn						p.59_60insN	NM_004767	NP_004758	O60883	ETBR2_HUMAN			1	238_239	+			59_60			Extracellular (Potential).		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Ins	INS	ENST00000367282.5	37	c.175_176insACA	CCDS1420.1																																																																																				0.673	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2		NM_004767		14	17	NaN	NaN	NaN	NaN	NaN	14	17	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204197926	204197926	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204197926delG	ENST00000272203.3	-	20	3131	c.2815delC	c.(2815-2817)ctgfs	p.L939fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.L959fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	939										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCAGGGCTCAGGGGAGTGTCA	0.557																																						uc001hau.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(2815-2817)CTGfs		phosphoinositol 3-phosphate-binding protein-3							182.0	163.0	169.0					1																	204197926		2203	4300	6503	SO:0001589	frameshift_variant	22874							g.chr1:204197926delG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2815delC	1.37:g.204197926delG	ENSP00000272203:p.Leu939fs						p.L939fs	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		20	3132	-	all_cancers(21;0.0222)|Breast(84;0.179)		939					A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	c.2815delC	CCDS1444.1																																																																																				0.557	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935		15	43	NaN	NaN	NaN	NaN	NaN	15	43	---	---
MS4A2	2206	broad.mit.edu	37	11	59861476	59861476	+	Frame_Shift_Del	DEL	C	C	-	rs143436537		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:59861476delC	ENST00000278888.3	+	6	679	c.577delC	c.(577-579)cttfs	p.L193fs		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	193					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CATTCTGGGACTTGGTAGTGC	0.403																																						uc001nop.2		NaN																	0				ovary(1)	1						c.(577-579)CTTfs		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						123.0	110.0	114.0					11																	59861476		2201	4295	6496	SO:0001589	frameshift_variant	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59861476delC	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.577delC	11.37:g.59861476delC	ENSP00000278888:p.Leu193fs					MS4A2_uc009ymu.2_3'UTR	p.L193fs	NM_000139	NP_000130	Q01362	FCERB_HUMAN			6	679	+		all_epithelial(135;0.245)	193			Helical; (Potential).		Q54A81	Frame_Shift_Del	DEL	ENST00000278888.3	37	c.577delC	CCDS7980.1																																																																																				0.403	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1				8	36	NaN	NaN	NaN	NaN	NaN	8	36	---	---
H2AFX	3014	broad.mit.edu	37	11	118965789	118965815	+	In_Frame_Del	DEL	CCTGGGCGATCGTCACGCCGCCCAGCA	CCTGGGCGATCGTCACGCCGCCCAGCA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:118965789_118965815delCCTGGGCGATCGTCACGCCGCCCAGCA	ENST00000530167.1	-	1	362_388	c.290_316delTGCTGGGCGGCGTGACGATCGCCCAGG	c.(289-318)ctgctgggcggcgtgacgatcgcccaggga>cga	p.97_106LLGGVTIAQG>R		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	97					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		AGGACGCCTCCCTGGGCGATCGTCACGCCGCCCAGCAGCTTGTTGAG	0.692								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvg.2		NaN																	0					0						c.(289-318)CTGCTGGGCGGCGTGACGATCGCCCAGGGA>CGA	Chromatin_Structure|Direct_reversal_of_damage	H2A histone family, member X																																				SO:0001651	inframe_deletion	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118965789_118965815delCCTGGGCGATCGTCACGCCGCCCAGCA	X14850	CCDS8410.1	11q23.3	2011-01-27						"""Histones / Replication-independent"""	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.290_316delTGCTGGGCGGCGTGACGATCGCCCAGG	11.37:g.118965789_118965815delCCTGGGCGATCGTCACGCCGCCCAGCA	ENSP00000434024:p.Leu97_Gly106delinsArg		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	H2AFX_uc001pvh.1_RNA	p.97_106LLGGVTIAQG>R	NM_002105	NP_002096	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	363_389	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	97_106					Q4ZGJ7|Q6IAS5	In_Frame_Del	DEL	ENST00000530167.1	37	c.290_316delTGCTGGGCGGCGTGACGATCGCCCAGG	CCDS8410.1																																																																																				0.692	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2		NM_002105		16	76	NaN	NaN	NaN	NaN	NaN	16	76	---	---
SYNE3	161176	broad.mit.edu	37	14	95912274	95912289	+	Frame_Shift_Del	DEL	CTGTTATGCAGCAGGT	CTGTTATGCAGCAGGT	-	rs542482480|rs535784290|rs28526182	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:95912274_95912289delCTGTTATGCAGCAGGT	ENST00000334258.5	-	8	1603_1618	c.1589_1604delACCTGCTGCATAACAG	c.(1588-1605)gacctgctgcataacagcfs	p.DLLHNS530fs	SYNE3_ENST00000557275.1_Frame_Shift_Del_p.DLLHNS530fs|SYNE3_ENST00000553340.1_Frame_Shift_Del_p.DLLHNS530fs|SYNE3_ENST00000554873.1_Frame_Shift_Del_p.DLLHNS287fs	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	530					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTGCAGGAGGCTGTTATGCAGCAGGTCTCTGTCCCT	0.597																																						uc001yei.3		NaN																	0				central_nervous_system(1)	1						c.(1588-1605)GACCTGCTGCATAACAGCfs		nesprin-3																																				SO:0001589	frameshift_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95912274_95912289delCTGTTATGCAGCAGGT	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1589_1604delACCTGCTGCATAACAG	14.37:g.95912274_95912289delCTGTTATGCAGCAGGT	ENSP00000334308:p.Asp530fs					C14orf49_uc010avi.2_Frame_Shift_Del_p.D530fs|C14orf49_uc001yej.1_Frame_Shift_Del_p.D530fs	p.D530fs	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	8	1604_1619	-		all_cancers(154;0.0937)	530_535			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Frame_Shift_Del	DEL	ENST00000334258.5	37	c.1589_1604delACCTGCTGCATAACAG	CCDS9935.1																																																																																				0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2		NM_152592		17	33	NaN	NaN	NaN	NaN	NaN	17	33	---	---
NF1	4763	broad.mit.edu	37	17	29556856	29556866	+	Frame_Shift_Del	DEL	TTATTGACTGA	TTATTGACTGA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			TTATTGACTGA	-	TTATTGACTGA	TTATTGACTGA		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:29556856_29556866delTTATTGACTGA	ENST00000358273.4	+	22	3237_3247	c.2854_2864delTTATTGACTGA	c.(2854-2865)ttattgactgatfs	p.LLTD952fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LLTD952fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	952					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L952*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTTAGGTTTTATTGACTGATACCAATACT	0.37			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	p.?(2)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(2854-2865)TTATTGACTGATfs		neurofibromin isoform 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556856_29556866delTTATTGACTGA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2854_2864delTTATTGACTGA	17.37:g.29556856_29556866delTTATTGACTGA	ENSP00000351015:p.Leu952fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.L952fs|NF1_uc010csn.1_Frame_Shift_Del_p.L812fs|NF1_uc002hgi.1_5'UTR	p.L952fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	22	3187_3197	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	952_955					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.2854_2864delTTATTGACTGA	CCDS42292.1																																																																																				0.370	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		23	49	NaN	NaN	NaN	NaN	NaN	23	49	---	---
EPHX3	79852	broad.mit.edu	37	19	15342144	15342157	+	Frame_Shift_Del	DEL	CAAGTCCACAGCCA	CAAGTCCACAGCCA	-	rs200721144		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:15342144_15342157delCAAGTCCACAGCCA	ENST00000221730.3	-	3	600_613	c.380_393delTGGCTGTGGACTTG	c.(379-393)gtggctgtggacttgfs	p.VAVDL127fs	EPHX3_ENST00000602233.1_Frame_Shift_Del_p.VAVDL127fs|EPHX3_ENST00000435261.1_Frame_Shift_Del_p.VAVDL127fs	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	127						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CATAGCCTCGCAAGTCCACAGCCACAACATGGAA	0.621																																						uc002nap.2		NaN																	0					0						c.(379-393)GTGGCTGTGGACTTGfs		abhydrolase domain containing 9 precursor																																				SO:0001589	frameshift_variant	79852					extracellular region	hydrolase activity	g.chr19:15342144_15342157delCAAGTCCACAGCCA	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.380_393delTGGCTGTGGACTTG	19.37:g.15342144_15342157delCAAGTCCACAGCCA	ENSP00000221730:p.Val127fs					EPHX3_uc002naq.2_Frame_Shift_Del_p.V127fs	p.V127fs	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN			3	589_602	-			127_131					A3KMR3	Frame_Shift_Del	DEL	ENST00000221730.3	37	c.380_393delTGGCTGTGGACTTG	CCDS12327.1																																																																																				0.621	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1		NM_024794		11	49	NaN	NaN	NaN	NaN	NaN	11	49	---	---
FCHO1	23149	broad.mit.edu	37	19	17877494	17877499	+	In_Frame_Del	DEL	TGGGAG	TGGGAG	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:17877494_17877499delTGGGAG	ENST00000596536.1	+	7	494_499	c.211_216delTGGGAG	c.(211-216)tgggagdel	p.WE71del	FCHO1_ENST00000595033.1_In_Frame_Del_p.WE21del|FCHO1_ENST00000594202.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000600676.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000539407.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000252771.7_In_Frame_Del_p.WE71del|FCHO1_ENST00000596951.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000597512.1_In_Frame_Del_p.WE78del|FCHO1_ENST00000389133.4_In_Frame_Del_p.WE71del	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	71	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCCCCGCTCTGGGAGGTCTTCCGCG	0.641																																						uc010ebb.2		NaN																	0				breast(1)	1						c.(211-216)TGGGAGdel		FCH domain only 1 isoform b																																				SO:0001651	inframe_deletion	23149							g.chr19:17877494_17877499delTGGGAG	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.211_216delTGGGAG	19.37:g.17877494_17877499delTGGGAG	ENSP00000470731:p.Trp71_Glu72del					FCHO1_uc002nhg.3_In_Frame_Del_p.WE71del|FCHO1_uc002nhh.2_In_Frame_Del_p.WE71del|FCHO1_uc010xpw.1_In_Frame_Del_p.WE21del|FCHO1_uc010ebc.1_In_Frame_Del_p.WE78del	p.WE71del	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			6	400_405	+			71_72			FCH.		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	In_Frame_Del	DEL	ENST00000596536.1	37	c.211_216delTGGGAG	CCDS32955.1																																																																																				0.641	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2		NM_015122		8	20	NaN	NaN	NaN	NaN	NaN	8	20	---	---
C3orf17	25871	broad.mit.edu	37	3	112724493	112724519	+	In_Frame_Del	DEL	CATGGATGCCTCTAAGATTTTCATGAA	CATGGATGCCTCTAAGATTTTCATGAA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:112724493_112724519delCATGGATGCCTCTAAGATTTTCATGAA	ENST00000314400.5	-	9	1759_1785	c.1568_1594delTTCATGAAAATCTTAGAGGCATCCATG	c.(1567-1596)attcatgaaaatcttagaggcatccatgaa>aaa	p.523_532IHENLRGIHE>K	C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_In_Frame_Del_p.387_396IHENLRGIHE>K|C3orf17_ENST00000383675.2_In_Frame_Del_p.453_462IHENLRGIHE>K	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	523					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GTTTCATTTTCATGGATGCCTCTAAGATTTTCATGAATCATTTTCTC	0.361																																						uc003dzr.2		NaN																	0					0						c.(1567-1596)ATTCATGAAAATCTTAGAGGCATCCATGAA>AAA		hypothetical protein LOC25871																																				SO:0001651	inframe_deletion	25871					integral to membrane		g.chr3:112724493_112724519delCATGGATGCCTCTAAGATTTTCATGAA	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1568_1594delTTCATGAAAATCTTAGAGGCATCCATG	3.37:g.112724493_112724519delCATGGATGCCTCTAAGATTTTCATGAA	ENSP00000320251:p.Ile523_Glu532delinsLys					GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc011bhz.1_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc010hqh.2_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc003dzt.2_In_Frame_Del_p.426_435IHENLRGIHE>K|C3orf17_uc003dzs.2_In_Frame_Del_p.387_396IHENLRGIHE>K|C3orf17_uc010hqg.2_In_Frame_Del_p.348_357IHENLRGIHE>K|C3orf17_uc011bia.1_In_Frame_Del_p.320_329IHENLRGIHE>K|C3orf17_uc003dzu.2_In_Frame_Del_p.452_461IHENLRGIHE>K|C3orf17_uc011bib.1_In_Frame_Del_p.412_421IHENLRGIHE>K|C3orf17_uc011bic.1_In_Frame_Del_p.356_365IHENLRGIHE>K|C3orf17_uc011bid.1_RNA	p.523_532IHENLRGIHE>K	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			9	1629_1655	-			523_532					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	In_Frame_Del	DEL	ENST00000314400.5	37	c.1568_1594delTTCATGAAAATCTTAGAGGCATCCATG	CCDS33824.1																																																																																				0.361	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3		NM_015412		26	73	NaN	NaN	NaN	NaN	NaN	26	73	---	---
MAGEF1	64110	broad.mit.edu	37	3	184429408	184429414	+	Frame_Shift_Del	DEL	CCAAGGC	CCAAGGC	-	rs6770319|rs561157342|rs10937187	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:184429408_184429414delCCAAGGC	ENST00000317897.3	-	1	422_428	c.196_202delGCCTTGG	c.(196-204)gccttggcafs	p.ALA66fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	66				A -> S (in Ref. 1; AAG30208, 2; AAG38606 and 3; AAH10056). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)		p.L67*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CTGCGCCTTGCCAAGGCTTTGGCCGCC	0.681																																						uc003fpa.2		NaN																	1	Substitution - Nonsense(1)	p.L67*(1)	ovary(1)	ovary(1)	1						c.(196-204)GCCTTGGCAfs		melanoma antigen family F, 1																																				SO:0001589	frameshift_variant	64110							g.chr3:184429408_184429414delCCAAGGC	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.196_202delGCCTTGG	3.37:g.184429408_184429414delCCAAGGC	ENSP00000315064:p.Ala66fs						p.A66fs	NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	423_429	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		66_68					Q9H215	Frame_Shift_Del	DEL	ENST00000317897.3	37	c.196_202delGCCTTGG	CCDS3269.1																																																																																				0.681	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1		NM_022149		33	57	NaN	NaN	NaN	NaN	NaN	33	57	---	---
LRRC66	339977	broad.mit.edu	37	4	52863983	52863983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:52863983delC	ENST00000343457.3	-	3	793	c.787delG	c.(787-789)gcafs	p.A263fs		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	263						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGACTGCCACACTATCA	0.398																																						uc003gzi.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(787-789)GCAfs		leucine rich repeat containing 66							189.0	179.0	182.0					4																	52863983		1909	4124	6033	SO:0001589	frameshift_variant	339977					integral to membrane		g.chr4:52863983delC	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.787delG	4.37:g.52863983delC	ENSP00000341944:p.Ala263fs						p.A263fs	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			3	800	-			263						Frame_Shift_Del	DEL	ENST00000343457.3	37	c.787delG	CCDS43229.1																																																																																				0.398	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		9	170	NaN	NaN	NaN	NaN	NaN	9	170	---	---
PPAP2A	8611	broad.mit.edu	37	5	54721068	54721070	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:54721068_54721070delGTT	ENST00000307259.8	-	6	1239_1241	c.819_821delAAC	c.(817-822)acaact>act	p.273_274TT>T	PPAP2A_ENST00000264775.5_In_Frame_Del_p.274_275TT>T|SKIV2L2_ENST00000230640.5_3'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	273					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GTGATTCCCAGTTGTTGGTGTTT	0.438																																						uc003jqa.2		NaN																	0				ovary(2)	2						c.(817-822)ACAACT>ACT		phosphatidic acid phosphatase type 2A isoform 1																																				SO:0001651	inframe_deletion	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54721068_54721070delGTT	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.819_821delAAC	5.37:g.54721071_54721073delGTT	ENSP00000302229:p.Thr274del					SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_In_Frame_Del_p.274_275TT>T|PPAP2A_uc003jqb.2_RNA	p.273_274TT>T	NM_003711	NP_003702	O14494	LPP1_HUMAN			6	1235_1237	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	273_274			Cytoplasmic (Potential).		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	In_Frame_Del	DEL	ENST00000307259.8	37	c.819_821delAAC	CCDS34159.1																																																																																				0.438	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1				30	44	NaN	NaN	NaN	NaN	NaN	30	44	---	---
G3BP1	10146	broad.mit.edu	37	5	151179821	151179822	+	Frame_Shift_Ins	INS	-	-	GGTGG			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:151179821_151179822insGGTGG	ENST00000394123.3	+	10	1143_1144	c.998_999insGGTGG	c.(997-1002)atggtgfs	p.-334fs	G3BP1_ENST00000543466.1_Frame_Shift_Ins_p.-152fs|G3BP1_ENST00000356245.3_Frame_Shift_Ins_p.-334fs			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCCCGAAGAATGGTGAGACACC	0.416																																						uc003lun.2		NaN																	0				skin(3)|ovary(1)	4						c.(997-999)ATGfs		Ras-GTPase-activating protein SH3-domain-binding																																				SO:0001589	frameshift_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151179821_151179822insGGTGG	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	Exception_encountered	5.37:g.151179821_151179822insGGTGG	ENSP00000377681:p.Val334fs					G3BP1_uc003lum.2_Frame_Shift_Ins_p.M333fs|G3BP1_uc011dcu.1_Frame_Shift_Ins_p.M151fs|G3BP1_uc010jhz.2_Frame_Shift_Ins_p.M151fs|G3BP1_uc003luq.2_Frame_Shift_Ins_p.M1fs	p.M333fs	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1169_1170	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	333					Q5HYE9	Frame_Shift_Ins	INS	ENST00000394123.3	37	c.998_999insGGTGG	CCDS4319.1																																																																																				0.416	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1		NM_005754		14	24	NaN	NaN	NaN	NaN	NaN	14	24	---	---
