#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
EIF4G3	8672	broad.mit.edu	37	1	21329220	21329220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:21329220G>A	ENST00000264211.8	-	2	210	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000356916.3_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000602326.1_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000374927.4_Nonsense_Mutation_p.Q6*	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	6					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GAACGGGTTTGAGGTTGTGAA	0.443																																						uc001bec.2		NaN																	0				skin(1)	1						c.(16-18)CAA>TAA		eukaryotic translation initiation factor 4							310.0	299.0	303.0					1																	21329220		2203	4300	6503	SO:0001587	stop_gained	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21329220G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.16C>T	1.37:g.21329220G>A	ENSP00000264211:p.Gln6*					EIF4G3_uc010odj.1_Nonsense_Mutation_p.Q6*|EIF4G3_uc009vpz.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bed.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bef.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bee.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001beg.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc010odk.1_Nonsense_Mutation_p.Q6*|EIF4G3_uc001beh.2_Nonsense_Mutation_p.Q6*	p.Q6*	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	3	272	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	6					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Nonsense_Mutation	SNP	ENST00000264211.8	37	c.16C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420897	0.96111	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000438975;ENST00000411888	.	.	.	5.6	5.6	0.85130	.	0.443382	0.24256	N	0.040128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.0948	17.8508	0.88747	0.0:0.0:1.0:0.0	.	.	.	.	X	6;196;6;6;6;121;6;6;6	.	ENSP00000264211:Q6X	Q	-	1	0	EIF4G3	21201807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.669000	0.74462	2.641000	0.89580	0.650000	0.86243	CAA		0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		70	143	0	0	0	0.01441	0	70	143		
KIAA1522	57648	broad.mit.edu	37	1	33235330	33235330	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:33235330C>T	ENST00000373480.1	+	5	569	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	KIAA1522_ENST00000401073.2_Missense_Mutation_p.R215W|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R167W	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	156	Poly-Arg.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGGCGGCGTCGGCGGGAGCG	0.627																																						uc001bvv.2		NaN																	0					0						c.(466-468)CGG>TGG		hypothetical protein LOC57648							27.0	32.0	30.0					1																	33235330		1946	4132	6078	SO:0001583	missense	57648							g.chr1:33235330C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.466C>T	1.37:g.33235330C>T	ENSP00000362579:p.Arg156Trp					KIAA1522_uc001bvu.1_Missense_Mutation_p.R215W|KIAA1522_uc010ohm.1_Missense_Mutation_p.R167W|KIAA1522_uc010ohn.1_Intron	p.R156W	NM_020888	NP_065939	Q9P206	K1522_HUMAN			5	602	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	156			Poly-Arg.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.466C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557595	0.45590	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.35236	1.32;1.32;1.32	5.05	3.04	0.35103	.	0.000000	0.56097	D	0.000039	T	0.54679	0.1873	M	0.63843	1.955	0.35930	D	0.83246	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67169	-0.5738	10	0.87932	D	0	-15.0231	12.3382	0.55079	0.4069:0.5931:0.0:0.0	.	167;156;215	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	W	215;167;156	ENSP00000383851:R215W;ENSP00000362580:R167W;ENSP00000362579:R156W	ENSP00000362579:R156W	R	+	1	2	KIAA1522	33007917	0.825000	0.29262	0.806000	0.32338	0.904000	0.53231	1.463000	0.35277	1.241000	0.43820	0.491000	0.48974	CGG		0.627	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1				9	45	0	0	0	0.010729	0	9	45		
KIAA1522	57648	broad.mit.edu	37	1	33236198	33236198	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:33236198C>G	ENST00000373480.1	+	6	1344	c.1241C>G	c.(1240-1242)tCa>tGa	p.S414*	KIAA1522_ENST00000401073.2_Nonsense_Mutation_p.S473*|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S425*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	414	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCTGAGGCCTCAGACACACTC	0.677																																						uc001bvv.2		NaN																	0					0						c.(1240-1242)TCA>TGA		hypothetical protein LOC57648							30.0	35.0	33.0					1																	33236198		2037	4177	6214	SO:0001587	stop_gained	57648							g.chr1:33236198C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1241C>G	1.37:g.33236198C>G	ENSP00000362579:p.Ser414*					KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S473*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S425*|KIAA1522_uc010ohn.1_Intron	p.S414*	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	1377	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	414			Ser-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Nonsense_Mutation	SNP	ENST00000373480.1	37	c.1241C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784100	0.90282	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	.	.	.	4.16	4.16	0.48862	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.1487	17.0131	0.86412	0.0:1.0:0.0:0.0	.	.	.	.	X	473;425;414	.	ENSP00000362579:S414X	S	+	2	0	KIAA1522	33008785	0.137000	0.22531	0.995000	0.50966	0.731000	0.41821	0.634000	0.24614	2.295000	0.77249	0.561000	0.74099	TCA		0.677	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1				7	67	0	0	0	0.006214	0	7	67		
CYP4B1	1580	broad.mit.edu	37	1	47283813	47283813	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:47283813C>G	ENST00000271153.4	+	11	1316	c.1280C>G	c.(1279-1281)tCt>tGt	p.S427C	CYP4B1_ENST00000452782.2_Missense_Mutation_p.S265C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.S413C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.S428C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	427					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.S427F(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GTCTTTGACTCTCTGCGCTTT	0.582																																						uc001cqm.3		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)|skin(1)	2						c.(1279-1281)TCT>TGT		cytochrome P450, family 4, subfamily B,							147.0	136.0	140.0					1																	47283813		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47283813C>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1280C>G	1.37:g.47283813C>G	ENSP00000271153:p.Ser427Cys					CYP4B1_uc001cqn.3_Missense_Mutation_p.S428C|CYP4B1_uc009vym.2_Missense_Mutation_p.S413C|CYP4B1_uc010omk.1_Missense_Mutation_p.S264C	p.S427C	NM_000779	NP_000770	P13584	CP4B1_HUMAN			11	1364	+	Acute lymphoblastic leukemia(166;0.155)		427					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1280C>G	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600443	0.28534	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.79141	-1.24;-1.24;-0.32;-1.24	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66886	0.2835	N	0.19112	0.55	0.22918	N	0.99857	B;B;B	0.32203	0.36;0.18;0.216	B;B;B	0.29176	0.077;0.06;0.099	T	0.63808	-0.6553	10	0.87932	D	0	.	17.2552	0.87053	0.0:0.8741:0.1259:0.0	.	413;428;427	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	428;427;413;265	ENSP00000360991:S428C;ENSP00000271153:S427C;ENSP00000360987:S413C;ENSP00000400413:S265C	ENSP00000271153:S427C	S	+	2	0	CYP4B1	47056400	1.000000	0.71417	0.978000	0.43139	0.021000	0.10359	5.767000	0.68850	1.609000	0.50190	-0.175000	0.13238	TCT		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1		NM_000779		16	107	0	0	0	0.007413	0	16	107		
PCSK9	255738	broad.mit.edu	37	1	55521852	55521852	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:55521852C>T	ENST00000302118.5	+	6	1276	c.986C>T	c.(985-987)tCa>tTa	p.S329L	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.S129L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	329	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCCCAGCCTCAGCTCCCGAG	0.741																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(985-987)TCA>TTA		proprotein convertase subtilisin/kexin type 9							6.0	7.0	6.0					1																	55521852		2139	4218	6357	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55521852C>T	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.986C>T	1.37:g.55521852C>T	ENSP00000303208:p.Ser329Leu					PCSK9_uc010oom.1_RNA	p.S329L	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			6	1277	+			329			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.986C>T	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601093	0.87055	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.87491	-2.26;-2.26	3.88	3.88	0.44766	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.083607	0.49916	U	0.000137	D	0.93197	0.7833	M	0.81179	2.53	0.53688	D	0.99997	D	0.89917	1.0	D	0.87578	0.998	D	0.94137	0.7393	10	0.62326	D	0.03	-10.1305	15.6491	0.77076	0.0:1.0:0.0:0.0	.	329	Q8NBP7	PCSK9_HUMAN	L	329;129	ENSP00000303208:S329L;ENSP00000441859:S129L	ENSP00000303208:S329L	S	+	2	0	PCSK9	55294440	1.000000	0.71417	0.888000	0.34837	0.879000	0.50718	6.374000	0.73132	1.964000	0.57103	0.563000	0.77884	TCA		0.741	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1		NM_174936		8	9	0	0	0	0.008291	0	8	9		
DEPDC1	55635	broad.mit.edu	37	1	68949729	68949729	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:68949729C>G	ENST00000456315.2	-	7	928	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.E272Q	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	272					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACATCTCGTTCAAATCCAACA	0.299																																						uc001dem.3		NaN																	0					0						c.(814-816)GAA>CAA		DEP domain containing 1 isoform a							48.0	51.0	50.0					1																	68949729		2202	4287	6489	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68949729C>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.814G>C	1.37:g.68949729C>G	ENSP00000412292:p.Glu272Gln					DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.E272Q	p.E272Q	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	7	931	-			272					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.814G>C	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626552	0.87560	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964	T;T	0.48522	0.81;0.81	4.94	4.94	0.65067	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.986	T	0.72714	-0.4210	10	0.52906	T	0.07	-7.6075	18.1609	0.89707	0.0:1.0:0.0:0.0	.	272;272	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	Q	272;272;217	ENSP00000412292:E272Q;ENSP00000360005:E272Q	ENSP00000360003:E217Q	E	-	1	0	DEPDC1	68722317	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.918000	0.75788	2.277000	0.76020	0.585000	0.79938	GAA		0.299	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2		NM_017779		9	29	0	0	0	0.016723	0	9	29		
LRRIQ3	127255	broad.mit.edu	37	1	74649182	74649182	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:74649182T>C	ENST00000395089.1	-	1	186	c.187A>G	c.(187-189)Aca>Gca	p.T63A	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.T63A|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.T63A|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.T63A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	63										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGAATATCTGTAATAAaattg	0.308																																						uc001dfy.3		NaN																	0				ovary(2)	2						c.(187-189)ACA>GCA		leucine-rich repeats and IQ motif containing 3							52.0	56.0	55.0					1																	74649182		2200	4295	6495	SO:0001583	missense	127255							g.chr1:74649182T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.187A>G	1.37:g.74649182T>C	ENSP00000378524:p.Thr63Ala					LRRIQ3_uc001dfz.3_RNA	p.T63A	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			2	379	-			63			LRR 1.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.187A>G	CCDS41350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.90|14.90	2.674048|2.674048	0.47781|0.47781	.|.	.|.	ENSG00000162620|ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911|ENST00000444984	T;T;T;T|.	0.35236|.	1.79;1.79;1.32;1.79|.	5.06|5.06	3.84|3.84	0.44239|0.44239	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.32530|0.32530	0.975|0.975	0.26908|0.26908	N|N	0.966952|0.966952	P|.	0.41345|.	0.746|.	B|.	0.38712|.	0.28|.	T|T	0.10245|0.10245	-1.0638|-1.0638	10|5	0.46703|.	T|.	0.11|.	.|.	10.9159|10.9159	0.47135|0.47135	0.0:0.0:0.157:0.843|0.0:0.0:0.157:0.843	.|.	63|.	A6PVS8|.	LRIQ3_HUMAN|.	A|C	63|5	ENSP00000378524:T63A;ENSP00000346414:T63A;ENSP00000359946:T63A;ENSP00000359948:T63A|.	ENSP00000346414:T63A|.	T|Y	-|-	1|2	0|0	LRRIQ3|LRRIQ3	74421770|74421770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	3.604000|3.604000	0.54081|0.54081	2.015000|2.015000	0.59207|0.59207	0.533000|0.533000	0.62120|0.62120	ACA|TAC		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258		16	18	0	0	0	0.007413	0	16	18		
RTCA	8634	broad.mit.edu	37	1	100756986	100756986	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:100756986G>C	ENST00000370128.4	+	11	1196	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	RTCA_ENST00000260563.4_Missense_Mutation_p.D356H	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	343					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										GAAATCAGAAGATGAAGAAGA	0.358																																						uc001dtc.2		NaN																	0					0						c.(1027-1029)GAT>CAT		RNA terminal phosphate cyclase domain 1 isoform							81.0	95.0	90.0					1																	100756986		2201	4299	6500	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100756986G>C	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.1027G>C	1.37:g.100756986G>C	ENSP00000359146:p.Asp343His					RTCD1_uc001dtd.2_Missense_Mutation_p.D356H	p.D343H	NM_003729	NP_003720	O00442	RTC1_HUMAN		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	11	1245	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	343					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.1027G>C	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705923	0.68615	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.74	4.83	0.62350	-terminal phosphate cyclase domain (1);RNA 3&apos (3);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.167610	0.52532	D	0.000069	T	0.34774	0.0909	N	0.15975	0.35	0.80722	D	1	P;P	0.46706	0.883;0.883	P;B	0.52424	0.698;0.299	T	0.44651	-0.9314	9	0.66056	D	0.02	-12.7399	12.0982	0.53767	0.0806:0.0:0.9194:0.0	.	356;343	O00442-2;O00442	.;RTC1_HUMAN	H	343;356	.	ENSP00000260563:D356H	D	+	1	0	RTCD1	100529574	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.601000	0.54059	1.431000	0.47355	0.655000	0.94253	GAT		0.358	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2				13	51	0	0	0	0.028581	0	13	51		
DCST2	127579	broad.mit.edu	37	1	154995858	154995858	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:154995858C>A	ENST00000368424.3	-	13	2004	c.1946G>T	c.(1945-1947)gGg>gTg	p.G649V		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	649						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGTCCCCCTGGTAGGA	0.602																																						uc001fgm.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1945-1947)GGG>GTG		DC-STAMP domain containing 2							45.0	54.0	51.0					1																	154995858		2186	4291	6477	SO:0001583	missense	127579					integral to membrane		g.chr1:154995858C>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1946G>T	1.37:g.154995858C>A	ENSP00000357409:p.Gly649Val					DCST2_uc009wpb.2_RNA	p.G649V	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		13	2026	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		649			Cytoplasmic (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1946G>T	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550593	0.45383	.	.	ENSG00000163354	ENST00000368424	T	0.23552	1.9	4.16	3.25	0.37280	.	0.280812	0.21922	N	0.067149	T	0.09512	0.0234	L	0.29908	0.895	0.80722	D	1	P	0.52316	0.952	B	0.43575	0.424	T	0.06607	-1.0817	10	0.36615	T	0.2	-21.2652	9.501	0.39017	0.0:0.8975:0.0:0.1025	.	649	Q5T1A1	DCST2_HUMAN	V	649	ENSP00000357409:G649V	ENSP00000357409:G649V	G	-	2	0	DCST2	153262482	0.468000	0.25839	0.874000	0.34290	0.835000	0.47333	0.747000	0.26290	1.086000	0.41228	0.655000	0.94253	GGG		0.602	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3		NM_144622		11	21	1	0	2.62699e-14	0.024245	2.79982e-14	11	21		
GBA	2629	broad.mit.edu	37	1	155207361	155207361	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:155207361T>A	ENST00000327247.5	-	8	1002	c.770A>T	c.(769-771)gAt>gTt	p.D257V	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_Missense_Mutation_p.D144V|GBA_ENST00000428024.3_Missense_Mutation_p.D170V|GBA_ENST00000427500.3_Missense_Mutation_p.D208V|GBA_ENST00000368373.3_Missense_Mutation_p.D257V|AL713999.1_ENST00000401290.1_RNA	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	257					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	AGCATAGGCATCCAGGAACCT	0.542									Gaucher disease type I																													uc001fjh.2		NaN																	0				ovary(1)|skin(1)	2						c.(769-771)GAT>GTT		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						31.0	26.0	28.0					1																	155207361		2203	4299	6502	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207361T>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.770A>T	1.37:g.155207361T>A	ENSP00000314508:p.Asp257Val					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.D144V|GBA_uc010pfx.1_Missense_Mutation_p.D208V|GBA_uc001fji.2_Missense_Mutation_p.D257V|GBA_uc001fjj.2_Missense_Mutation_p.D257V|GBA_uc001fjk.2_Missense_Mutation_p.D257V|GBA_uc001fjl.2_Missense_Mutation_p.D257V|GBA_uc010pfy.1_Missense_Mutation_p.D170V|GBA_uc009wqk.1_Missense_Mutation_p.D170V	p.D257V	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	920	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		257					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.770A>T	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	16.02	3.005354	0.54254	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82;-5.82	3.51	3.51	0.40186	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.070123	0.56097	D	0.000031	D	0.99118	0.9696	M	0.84082	2.675	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.99	D;D;D	0.75020	0.985;0.975;0.985	D	0.99679	1.0998	10	0.66056	D	0.02	-9.0391	8.5466	0.33426	0.0:0.0:0.0:1.0	.	208;144;257	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	V	208;170;257;257;144;214;242	ENSP00000402577:D208V;ENSP00000397986:D170V;ENSP00000357357:D257V;ENSP00000314508:D257V;ENSP00000445560:D144V	ENSP00000314508:D257V	D	-	2	0	GBA	153473985	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	5.185000	0.65076	1.584000	0.49913	0.260000	0.18958	GAT		0.542	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1		NM_000157		9	13	0	0	0	0.008871	0	9	13		
ASH1L	55870	broad.mit.edu	37	1	155449087	155449087	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:155449087G>A	ENST00000368346.3	-	3	4213	c.3574C>T	c.(3574-3576)Cat>Tat	p.H1192Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1192Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1192					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)			TCATCACTATGAGACTCACTG	0.443																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3574-3576)CAT>TAT		absent, small, or homeotic 1-like							96.0	99.0	98.0					1																	155449087		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.chr1:155449087G>A	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.3574C>T	1.37:g.155449087G>A	ENSP00000357330:p.His1192Tyr					ASH1L_uc001fkt.2_Missense_Mutation_p.H1192Y|ASH1L_uc009wqr.1_Missense_Mutation_p.H1192Y	p.H1192Y	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)		3	4054	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1192					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3574C>T		.	.	.	.	.	.	.	.	.	.	G	18.82	3.706064	0.68615	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90444	-2.67;-2.67	5.2	5.2	0.72013	.	0.053074	0.85682	D	0.000000	D	0.92107	0.7498	L	0.36672	1.1	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	D	0.92972	0.6398	10	0.87932	D	0	.	18.5192	0.90945	0.0:0.0:1.0:0.0	.	1192;1192	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	1192	ENSP00000357330:H1192Y;ENSP00000376204:H1192Y	ENSP00000357330:H1192Y	H	-	1	0	ASH1L	153715711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.705000	0.92388	0.591000	0.81541	CAT		0.443	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		28	47	0	0	0	0.013726	0	28	47		
ASH1L	55870	broad.mit.edu	37	1	155449222	155449222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:155449222G>A	ENST00000368346.3	-	3	4078	c.3439C>T	c.(3439-3441)Cag>Tag	p.Q1147*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1147*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1147					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)			GCAAGAGTCTGAATCATACTG	0.473																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3439-3441)CAG>TAG		absent, small, or homeotic 1-like							80.0	76.0	77.0					1																	155449222		2203	4300	6503	SO:0001587	stop_gained	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.chr1:155449222G>A	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.3439C>T	1.37:g.155449222G>A	ENSP00000357330:p.Gln1147*					ASH1L_uc001fkt.2_Nonsense_Mutation_p.Q1147*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.Q1147*	p.Q1147*	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)		3	3919	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1147					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.3439C>T		.	.	.	.	.	.	.	.	.	.	G	46	12.218835	0.99647	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.08	5.08	0.68730	.	0.224065	0.38720	N	0.001585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.2607	0.90034	0.0:0.0:1.0:0.0	.	.	.	.	X	1147	.	ENSP00000357330:Q1147X	Q	-	1	0	ASH1L	153715846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.021000	0.76425	2.645000	0.89757	0.591000	0.81541	CAG		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		16	46	0	0	0	0.00499	0	16	46		
TNN	63923	broad.mit.edu	37	1	175066815	175066815	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:175066815G>A	ENST00000239462.4	+	8	1964	c.1851G>A	c.(1849-1851)ccG>ccA	p.P617P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	617	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAACGCCCCGACAGGTAACA	0.512																																						uc001gkl.1		NaN																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1849-1851)CCG>CCA		tenascin N precursor							52.0	52.0	52.0					1																	175066815		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175066815G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1851G>A	1.37:g.175066815G>A						TNN_uc010pmx.1_Intron	p.P617P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	8	1964	+		Breast(1374;0.000962)	617			Fibronectin type-III 4.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.1851G>A	CCDS30943.1																																																																																				0.512	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527		4	94	0	0	0	0.021553	0	4	94		
BRINP2	57795	broad.mit.edu	37	1	177245417	177245417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:177245417G>A	ENST00000361539.4	+	6	1171	c.859G>A	c.(859-861)Gag>Aag	p.E287K	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	287					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CTCTGAGGGTGAGCTCGTCTG	0.572																																						uc001glf.2		NaN																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(859-861)GAG>AAG		family with sequence similarity 5, member B							77.0	61.0	66.0					1																	177245417		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177245417G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.859G>A	1.37:g.177245417G>A	ENSP00000354481:p.Glu287Lys					FAM5B_uc010pna.1_Missense_Mutation_p.E37K|FAM5B_uc001glg.2_Missense_Mutation_p.E182K	p.E287K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			6	1171	+			287					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.859G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952878	0.92660	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.17528	2.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	M	0.71036	2.16	0.58432	D	0.999995	D;D;P	0.63880	0.993;0.968;0.816	P;P;B	0.60886	0.88;0.802;0.24	T	0.10636	-1.0621	10	0.87932	D	0	-26.704	20.239	0.98366	0.0:0.0:1.0:0.0	.	37;182;287	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	K	37;287	ENSP00000354481:E287K	ENSP00000354481:E287K	E	+	1	0	FAM5B	175512040	1.000000	0.71417	0.970000	0.41538	0.975000	0.68041	3.623000	0.54224	2.884000	0.98904	0.655000	0.94253	GAG		0.572	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1		NM_021165		18	54	0	0	0	0.010504	0	18	54		
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:186276100A>C	ENST00000445192.2	+	7	1294	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T417P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652																																						uc001gru.3		NaN																	1	Substitution - Missense(1)		prostate(1)	skin(1)	1						c.(1249-1251)ACC>CCC		proteoglycan 4 isoform A																																				SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276100A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1249A>C	1.37:g.186276100A>C	ENSP00000399679:p.Thr417Pro					PRG4_uc001grt.3_Missense_Mutation_p.T376P|PRG4_uc009wyl.2_Missense_Mutation_p.T324P|PRG4_uc009wym.2_Missense_Mutation_p.T283P|PRG4_uc010poo.1_Intron	p.T417P	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1300	+			417			9.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1249A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.624	0.483511	0.12581	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04970	3.57;3.67;3.52;3.69	3.27	-6.55	0.01854	.	.	.	.	.	T	0.01353	0.0044	N	0.00332	-1.63	0.09310	N	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.49293	-0.8955	8	.	.	.	.	10.0961	0.42475	0.609:0.2011:0.1899:0.0	.	283;324;417;376	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	374;283;376;324;417	ENSP00000356456:T374P;ENSP00000356453:T376P;ENSP00000356455:T324P;ENSP00000399679:T417P	.	T	+	1	0	PRG4	184542723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-2.241000	0.00709	-2.624000	0.00155	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		5	105	0	0	0	0.006214	0	5	105		
CFHR1	3078	broad.mit.edu	37	1	196794771	196794771	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:196794771G>C	ENST00000320493.5	+	2	311	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	CFHR1_ENST00000367424.4_Missense_Mutation_p.E75Q|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	75	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATGCACAGAAGAAGGATGGTC	0.388																																						uc001gtn.2		NaN																	0					0						c.(223-225)GAA>CAA		complement factor H-related 1 precursor							73.0	73.0	73.0					1																	196794771		1872	4112	5984	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196794771G>C	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.223G>C	1.37:g.196794771G>C	ENSP00000314299:p.Glu75Gln					CFHR1_uc001gtm.2_Intron	p.E75Q	NM_002113	NP_002104	Q03591	FHR1_HUMAN			2	337	+			75			Sushi 1.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.223G>C	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	18.48	3.633389	0.67015	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.64803	-0.12;-0.12	4.4	1.38	0.22167	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.48926	0.1527	L	0.35288	1.05	0.09310	N	0.999998	P	0.47191	0.891	P	0.47430	0.547	T	0.31194	-0.9952	9	0.16896	T	0.51	.	3.4106	0.07357	0.2219:0.0:0.5763:0.2018	.	75	Q03591	FHR1_HUMAN	Q	75	ENSP00000356394:E75Q;ENSP00000314299:E75Q	ENSP00000314299:E75Q	E	+	1	0	CFHR1	195061394	0.000000	0.05858	0.480000	0.27341	0.974000	0.67602	-0.815000	0.04481	0.293000	0.22520	0.430000	0.28490	GAA		0.388	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2		NM_002113		21	46	0	0	0	0.008361	0	21	46		
MTR	4548	broad.mit.edu	37	1	236978926	236978926	+	Missense_Mutation	SNP	A	A	G	rs546918671		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:236978926A>G	ENST00000366577.5	+	7	1026	c.632A>G	c.(631-633)aAt>aGt	p.N211S	MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.N211S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	211	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCACTCCAAAATCTTTTTGAG	0.363																																						uc001hyi.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(631-633)AAT>AGT		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						96.0	97.0	96.0					1																	236978926		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236978926A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.632A>G	1.37:g.236978926A>G	ENSP00000355536:p.Asn211Ser					MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.N211S|MTR_uc010pxy.1_Missense_Mutation_p.N211S|MTR_uc009xgj.1_Missense_Mutation_p.I42V	p.N211S	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	7	1055	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	211			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.632A>G	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	8.664	0.901291	0.17760	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.10192	2.9;2.9	6.07	3.71	0.42584	Homocysteine S-methyltransferase (4);	0.752924	0.13717	N	0.367684	T	0.05090	0.0136	N	0.05330	-0.07	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.22601	0.04;0.04;0.04	T	0.42932	-0.9422	10	0.07644	T	0.81	-0.1768	8.5569	0.33487	0.8014:0.1295:0.0691:0.0	.	211;211;211	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	S	211	ENSP00000355536:N211S;ENSP00000441845:N211S	ENSP00000355536:N211S	N	+	2	0	MTR	235045549	0.177000	0.23109	0.060000	0.19600	0.650000	0.38633	1.622000	0.36997	1.094000	0.41399	0.533000	0.62120	AAT		0.363	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2		NM_000254		17	50	0	0	0	0.014323	0	17	50		
FAM208B	54906	broad.mit.edu	37	10	5798670	5798670	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:5798670G>A	ENST00000328090.5	+	16	7326	c.6701G>A	c.(6700-6702)aGa>aAa	p.R2234K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2234																	ATCATCATCAGAAATGAAGAT	0.393																																						uc001iij.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6700-6702)AGA>AAA		hypothetical protein LOC54906							120.0	105.0	110.0					10																	5798670		1887	4110	5997	SO:0001583	missense	54906							g.chr10:5798670G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6701G>A	10.37:g.5798670G>A	ENSP00000328426:p.Arg2234Lys					C10orf18_uc001iik.2_Missense_Mutation_p.R1078K	p.R2234K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			16	7326	+			2234					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.6701G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321199	0.41096	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.39997	1.05	5.82	1.37	0.22104	.	0.325479	0.30949	N	0.008544	T	0.23289	0.0563	L	0.28115	0.83	0.26468	N	0.975336	B	0.33857	0.429	B	0.24006	0.05	T	0.12372	-1.0550	10	0.22109	T	0.4	.	11.0036	0.47620	0.3069:0.0:0.693:0.0	.	2234	Q5VWN6	F208B_HUMAN	K	2234;1429	ENSP00000328426:R2234K	ENSP00000328426:R2234K	R	+	2	0	C10orf18	5838676	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.944000	0.49034	0.369000	0.24510	0.561000	0.74099	AGA		0.393	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782		25	46	0	0	0	0.027356	0	25	46		
WAC	51322	broad.mit.edu	37	10	28897274	28897274	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:28897274C>T	ENST00000354911.4	+	8	1240	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L	WAC_ENST00000375664.4_Missense_Mutation_p.P315L|WAC_ENST00000347934.4_Missense_Mutation_p.P257L|WAC_ENST00000428935.1_Missense_Mutation_p.P315L|WAC_ENST00000375646.1_Missense_Mutation_p.P212L	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	360					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTTCAGGACCCAAATCTTCTT	0.448																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1078-1080)CCA>CTA		WW domain-containing adapter with a coiled-coil							74.0	67.0	69.0					10																	28897274		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28897274C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1079C>T	10.37:g.28897274C>T	ENSP00000346986:p.Pro360Leu					WAC_uc001iud.2_Missense_Mutation_p.P315L|WAC_uc001iue.2_Missense_Mutation_p.P50L|WAC_uc009xlb.2_Missense_Mutation_p.P315L|WAC_uc001iug.2_Missense_Mutation_p.P257L|WAC_uc001iuh.2_Missense_Mutation_p.P315L	p.P360L	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			8	1164	+			360					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1079C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468002	0.84533	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454	T;T;T;T;T	0.70749	0.46;0.13;0.36;0.45;-0.51	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.65815	0.995;0.995;0.991;0.98	D;D;P;P	0.63877	0.919;0.919;0.831;0.814	T	0.81653	-0.0835	10	0.72032	D	0.01	-15.6035	15.8515	0.78934	0.137:0.863:0.0:0.0	.	315;257;360;315	Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.;.;WAC_HUMAN;.	L	315;212;257;360;315;315	ENSP00000364816:P315L;ENSP00000364797:P212L;ENSP00000311106:P257L;ENSP00000346986:P360L;ENSP00000399706:P315L	ENSP00000311106:P257L	P	+	2	0	WAC	28937280	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.409000	0.80053	1.416000	0.47057	-0.293000	0.09583	CCA		0.448	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		11	11	0	0	0	0.010729	0	11	11		
CHAT	1103	broad.mit.edu	37	10	50873030	50873030	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:50873030G>A	ENST00000337653.2	+	15	2338	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	CHAT_ENST00000339797.1_Missense_Mutation_p.E611K|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000395559.2_Missense_Mutation_p.E611K|CHAT_ENST00000351556.3_Missense_Mutation_p.E611K|CHAT_ENST00000395562.2_Missense_Mutation_p.E647K	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	729					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCCGCCTACTGAGAGCAAGCC	0.522																																						uc001jhz.2		NaN																	0				central_nervous_system(3)	3						c.(2185-2187)GAG>AAG		choline acetyltransferase isoform 2	Choline(DB00122)						85.0	85.0	85.0					10																	50873030		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50873030G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2185G>A	10.37:g.50873030G>A	ENSP00000337103:p.Glu729Lys					CHAT_uc001jhv.1_Missense_Mutation_p.E611K|CHAT_uc001jhx.1_Missense_Mutation_p.E611K|CHAT_uc001jhy.1_Missense_Mutation_p.E611K|CHAT_uc001jia.2_Missense_Mutation_p.E611K|CHAT_uc010qgs.1_Intron	p.E729K	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	15	2338	+		all_neural(218;0.107)	729					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.2185G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	5.417	0.262147	0.10239	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.84589	-1.86;-1.86;-1.86;-1.83;-1.87	5.76	-1.12	0.09808	.	1.459190	0.03865	N	0.274634	T	0.68696	0.3029	N	0.14661	0.345	0.09310	N	1	B	0.24882	0.113	B	0.18871	0.023	T	0.59500	-0.7443	10	0.02654	T	1	0.1466	7.6012	0.28077	0.2916:0.4612:0.2473:0.0	.	729	P28329	CLAT_HUMAN	K	611;611;611;729;647	ENSP00000343486:E611K;ENSP00000345878:E611K;ENSP00000378926:E611K;ENSP00000337103:E729K;ENSP00000378929:E647K	ENSP00000337103:E729K	E	+	1	0	CHAT	50543036	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.458000	0.06737	-0.192000	0.10432	-0.176000	0.13171	GAG		0.522	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1		NM_020549		54	60	0	0	0	0.01441	0	54	60		
HECTD2	143279	broad.mit.edu	37	10	93252132	93252132	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:93252132G>C	ENST00000298068.5	+	13	1417	c.1323G>C	c.(1321-1323)ttG>ttC	p.L441F	HECTD2_ENST00000536715.1_Missense_Mutation_p.L30F|HECTD2_ENST00000446394.1_Missense_Mutation_p.L445F|HECTD2_ENST00000371667.1_Missense_Mutation_p.L91F	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	441	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAGCCGATTTGAAAAAGAAGT	0.348																																					NSCLC(12;376 469 1699 39910 41417)	uc001khl.2		NaN																	0				skin(1)	1						c.(1321-1323)TTG>TTC		HECT domain containing 2 isoform a							97.0	101.0	100.0					10																	93252132		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93252132G>C	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1323G>C	10.37:g.93252132G>C	ENSP00000298068:p.Leu441Phe					LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.L445F|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Missense_Mutation_p.L30F|HECTD2_uc001khn.1_Missense_Mutation_p.L91F	p.L441F	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			13	1423	+			441			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.1323G>C	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873838	0.72180	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.45	3.61	0.41365	HECT (3);	0.000000	0.64402	D	0.000002	D	0.85557	0.5724	M	0.73753	2.245	0.52099	D	0.999948	D;D	0.89917	0.974;1.0	P;D	0.85130	0.81;0.997	D	0.84842	0.0808	10	0.72032	D	0.01	.	9.0368	0.36293	0.2233:0.0:0.7767:0.0	.	445;441	E7ERR3;Q5U5R9	.;HECD2_HUMAN	F	445;441;30;91	ENSP00000401023:L445F;ENSP00000298068:L441F;ENSP00000439687:L30F;ENSP00000360731:L91F	ENSP00000298068:L441F	L	+	3	2	HECTD2	93242112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.635000	0.46537	0.682000	0.31407	0.563000	0.77884	TTG		0.348	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1				12	14	0	0	0	0.013537	0	12	14		
MYOF	26509	broad.mit.edu	37	10	95123738	95123738	+	Missense_Mutation	SNP	C	C	T	rs188501773	byFrequency	TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:95123738C>T	ENST00000359263.4	-	27	2847	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	MYOF_ENST00000371501.4_Missense_Mutation_p.E950K|MYOF_ENST00000358334.5_Missense_Mutation_p.E937K|MYOF_ENST00000371502.4_Missense_Mutation_p.E950K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	950					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAGGTGTCCTCGGCCGGCTTC	0.612													C|||	8	0.00159744	0.0	0.0	5008	,	,		14585	0.0069		0.0	False		,,,				2504	0.001					uc001kin.2		NaN																	0				ovary(3)|breast(1)	4						c.(2848-2850)GAG>AAG		myoferlin isoform a							52.0	54.0	53.0					10																	95123738		1935	4139	6074	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95123738C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2848G>A	10.37:g.95123738C>T	ENSP00000352208:p.Glu950Lys					MYOF_uc001kio.2_Missense_Mutation_p.E937K|MYOF_uc009xue.2_RNA	p.E950K	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			27	2971	-			950			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.2848G>A	CCDS41551.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	11.43	1.637770	0.29157	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.65	5.65	0.86999	Ferlin/Peroxisome membrane (1);	0.293174	0.38720	N	0.001599	T	0.64549	0.2608	N	0.16166	0.38	0.45930	D	0.998763	B;B	0.12013	0.004;0.005	B;B	0.13407	0.009;0.003	T	0.64223	-0.6458	10	0.09590	T	0.72	-28.5792	19.9142	0.97043	0.0:1.0:0.0:0.0	.	937;950	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	K	937;950;950;950	ENSP00000351094:E937K;ENSP00000352208:E950K;ENSP00000360556:E950K;ENSP00000360557:E950K	ENSP00000351094:E937K	E	-	1	0	MYOF	95113728	0.957000	0.32711	0.973000	0.42090	0.424000	0.31475	2.362000	0.44169	2.941000	0.99782	0.655000	0.94253	GAG		0.612	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		NM_013451		70	63	0	0	0	0.01441	0	70	63		
MUC6	4588	broad.mit.edu	37	11	1017507	1017507	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:1017507G>A	ENST00000421673.2	-	31	5344	c.5294C>T	c.(5293-5295)tCt>tTt	p.S1765F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1765	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGGTGGTAGAAGTTGAGGT	0.577																																						uc001lsw.2		NaN																	0				ovary(1)	1						c.(5293-5295)TCT>TTT		mucin 6, gastric							652.0	636.0	641.0					11																	1017507		2200	4294	6494	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017507G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5294C>T	11.37:g.1017507G>A	ENSP00000406861:p.Ser1765Phe						p.S1765F	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5345	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1765			Thr-rich.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5294C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	10.28	1.305401	0.23736	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	3.25	-0.0693	0.13752	.	.	.	.	.	T	0.32645	0.0836	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.12553	-1.0543	9	0.49607	T	0.09	.	4.76	0.13102	0.2148:0.0:0.6158:0.1693	.	1765	Q6W4X9	MUC6_HUMAN	F	1765	ENSP00000406861:S1765F	ENSP00000406861:S1765F	S	-	2	0	MUC6	1007507	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.812000	0.04496	-0.124000	0.11724	0.313000	0.20887	TCT		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		19	649	0	0	0	0.01892	0	19	649		
PDE3B	5140	broad.mit.edu	37	11	14839736	14839736	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:14839736G>A	ENST00000282096.4	+	6	1883	c.1530G>A	c.(1528-1530)ttG>ttA	p.L510L	PDE3B_ENST00000455098.2_Silent_p.L459L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	510					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AAGGTGTTTTGTCCAGTCTGA	0.323																																						uc001mln.2		NaN																	0					0						c.(1528-1530)TTG>TTA		phosphodiesterase 3B							51.0	49.0	50.0					11																	14839736		2200	4293	6493	SO:0001819	synonymous_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14839736G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1530G>A	11.37:g.14839736G>A						PDE3B_uc010rcr.1_Silent_p.L459L	p.L510L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			6	1883	+			510					B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.1530G>A	CCDS7817.1																																																																																				0.323	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1		NM_000922		3	11	0	0	0	0.004672	0	3	11		
OR5W2	390148	broad.mit.edu	37	11	55681259	55681259	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:55681259G>A	ENST00000344514.1	-	1	799	c.800C>T	c.(799-801)tCt>tTt	p.S267F		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGATCTAGAGAATAGGAAGA	0.438																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NaN																	0				ovary(1)|skin(1)	2						c.(799-801)TCT>TTT		olfactory receptor, family 5, subfamily W,							76.0	86.0	83.0					11																	55681259		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681259G>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.800C>T	11.37:g.55681259G>A	ENSP00000342448:p.Ser267Phe						p.S267F	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	800	-			267			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.800C>T	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180411	0.38511	.	.	ENSG00000187612	ENST00000344514	T	0.00277	8.34	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001360	T	0.00468	0.0015	M	0.86343	2.81	0.20489	N	0.999892	B	0.33477	0.413	P	0.44477	0.451	T	0.08249	-1.0731	10	0.72032	D	0.01	.	9.4436	0.38684	0.0969:0.0:0.9031:0.0	.	267	Q8NH69	OR5W2_HUMAN	F	267	ENSP00000342448:S267F	ENSP00000342448:S267F	S	-	2	0	OR5W2	55437835	0.008000	0.16893	0.681000	0.30009	0.421000	0.31385	1.745000	0.38278	2.311000	0.77944	0.549000	0.68633	TCT		0.438	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1		NM_001001960		6	36	0	0	0	0.021553	0	6	36		
SCGB2A1	4246	broad.mit.edu	37	11	61978051	61978051	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:61978051G>A	ENST00000244930.4	+	2	286	c.222G>A	c.(220-222)ctG>ctA	p.L74L	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	74					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						ATAGAACTCTGAAAAACTTTG	0.418																																						uc001nta.2		NaN																	0					0						c.(220-222)CTG>CTA		secretoglobin, family 2A, member 1 precursor							98.0	96.0	97.0					11																	61978051		2202	4299	6501	SO:0001819	synonymous_variant	4246					extracellular region	androgen binding	g.chr11:61978051G>A	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.222G>A	11.37:g.61978051G>A							p.L74L	NM_002407	NP_002398	O75556	SG2A1_HUMAN			2	286	+			74						Silent	SNP	ENST00000244930.4	37	c.222G>A	CCDS8016.1																																																																																				0.418	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1		NM_002407		15	41	0	0	0	0.00499	0	15	41		
SLC22A10	387775	broad.mit.edu	37	11	63072221	63072221	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:63072221G>C	ENST00000332793.6	+	9	1460	c.1458G>C	c.(1456-1458)ttG>ttC	p.L486F	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	486						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTCCCCTCTTGATGACCTTAA	0.408																																						uc009yor.2		NaN																	0				ovary(2)	2						c.(1456-1458)TTG>TTC		solute carrier family 22, member 10							153.0	141.0	145.0					11																	63072221		1872	4103	5975	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63072221G>C	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1458G>C	11.37:g.63072221G>C	ENSP00000327569:p.Leu486Phe					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	p.L486F	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			9	1666	+			486			Helical; (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1458G>C	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	g	7.940	0.742644	0.15642	.	.	ENSG00000184999	ENST00000332793	T	0.75704	-0.96	2.72	1.76	0.24704	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.295465	0.25487	U	0.030332	T	0.65354	0.2683	L	0.54863	1.705	0.19300	N	0.99998	B	0.18013	0.025	B	0.24006	0.05	T	0.51395	-0.8711	10	0.22706	T	0.39	.	8.9502	0.35785	0.0:0.0:0.778:0.222	.	486	Q63ZE4	S22AA_HUMAN	F	486	ENSP00000327569:L486F	ENSP00000327569:L486F	L	+	3	2	SLC22A10	62828797	0.683000	0.27633	0.138000	0.22173	0.074000	0.17049	0.793000	0.26944	0.464000	0.27142	0.574000	0.79327	TTG		0.408	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3		NM_001039752		11	68	0	0	0	0.010729	0	11	68		
C2CD3	26005	broad.mit.edu	37	11	73814325	73814325	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:73814325C>T	ENST00000334126.7	-	14	2657	c.2431G>A	c.(2431-2433)Gtg>Atg	p.V811M	C2CD3_ENST00000313663.7_Missense_Mutation_p.V811M			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	811					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCATCTGGCACCATCAACAGC	0.413																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(2431-2433)GTG>ATG		C2 calcium-dependent domain containing 3							200.0	174.0	183.0					11																	73814325		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73814325C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2431G>A	11.37:g.73814325C>T	ENSP00000334379:p.Val811Met						p.V811M	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			14	2658	-	Breast(11;4.16e-06)		811					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2431G>A		.	.	.	.	.	.	.	.	.	.	C	25.6	4.656399	0.88056	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	D;D	0.96967	-4.19;-4.19	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.73598	2.24	0.48288	D	0.999627	D	0.89917	1.0	D	0.91635	0.999	D	0.97971	1.0343	10	0.87932	D	0	-10.9391	14.1108	0.65120	0.0:0.9276:0.0:0.0724	.	811	Q4AC94-1	.	M	811	ENSP00000334379:V811M;ENSP00000323339:V811M	ENSP00000323339:V811M	V	-	1	0	C2CD3	73491973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.970000	0.63742	2.791000	0.96007	0.650000	0.86243	GTG		0.413	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		23	105	0	0	0	0.01892	0	23	105		
PGM2L1	283209	broad.mit.edu	37	11	74053678	74053678	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:74053678G>A	ENST00000298198.4	-	12	1771	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	487					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GGAAGTTTTTGAAATATGATA	0.289																																						uc001ovb.1		NaN																	0				ovary(1)	1						c.(1459-1461)TCA>TTA		phosphoglucomutase 2-like 1							64.0	73.0	70.0					11																	74053678		2198	4290	6488	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74053678G>A	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1460C>T	11.37:g.74053678G>A	ENSP00000298198:p.Ser487Leu						p.S487L	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			12	1756	-	Breast(11;3.32e-06)		487					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1460C>T	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934493	0.73442	.	.	ENSG00000165434	ENST00000298198	T	0.19105	2.17	5.9	5.9	0.94986	.	0.069270	0.64402	D	0.000014	T	0.34658	0.0905	M	0.83483	2.645	0.43782	D	0.99631	P	0.34934	0.476	B	0.36719	0.231	T	0.18053	-1.0349	10	0.62326	D	0.03	-8.7075	17.7759	0.88508	0.0:0.0:1.0:0.0	.	487	Q6PCE3	PGM2L_HUMAN	L	487	ENSP00000298198:S487L	ENSP00000298198:S487L	S	-	2	0	PGM2L1	73731326	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	4.156000	0.58138	2.786000	0.95864	0.563000	0.77884	TCA		0.289	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1		NM_173582		9	37	0	0	0	0.016723	0	9	37		
INTS4	92105	broad.mit.edu	37	11	77669853	77669853	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:77669853C>T	ENST00000534064.1	-	7	770	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	INTS4_ENST00000529807.1_Missense_Mutation_p.E246K	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	246					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCACTTGTTCATAGTCATCA	0.428																																						uc001oys.2		NaN																	0				ovary(2)	2						c.(736-738)GAA>AAA		integrator complex subunit 4							44.0	39.0	40.0					11																	77669853		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77669853C>T	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.736G>A	11.37:g.77669853C>T	ENSP00000434466:p.Glu246Lys					INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.E246K	p.E246K	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		7	764	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		246			HEAT 4.		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.736G>A	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258878	0.80246	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.65549	-0.16;1.4	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.160869	0.53938	D	0.000056	T	0.68924	0.3054	M	0.78456	2.415	0.80722	D	1	P	0.39216	0.664	B	0.42030	0.373	T	0.75581	-0.3268	10	0.72032	D	0.01	-8.8884	17.8194	0.88645	0.0:1.0:0.0:0.0	.	246	Q96HW7	INT4_HUMAN	K	246;97;246	ENSP00000434466:E246K;ENSP00000433644:E246K	ENSP00000346913:E97K	E	-	1	0	INTS4	77347501	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	5.214000	0.65236	2.441000	0.82636	0.555000	0.69702	GAA		0.428	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1		NM_033547		6	31	0	0	0	0.001984	0	6	31		
SYTL2	54843	broad.mit.edu	37	11	85445049	85445049	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:85445049G>C	ENST00000528231.1	-	6	1597	c.1320C>G	c.(1318-1320)atC>atG	p.I440M	SYTL2_ENST00000316356.4_Missense_Mutation_p.I441M|SYTL2_ENST00000389960.4_Missense_Mutation_p.I440M|SYTL2_ENST00000527523.1_Missense_Mutation_p.I392M|SYTL2_ENST00000524452.1_Missense_Mutation_p.I440M	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	440					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGGTTCATTGATGGTTGGTG	0.383																																						uc010rth.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1318-1320)ATC>ATG		synaptotagmin-like 2 isoform g							158.0	148.0	151.0					11																	85445049		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445049G>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1320C>G	11.37:g.85445049G>C	ENSP00000431701:p.Ile440Met					SYTL2_uc010rtg.1_Missense_Mutation_p.I441M|SYTL2_uc010rti.1_Missense_Mutation_p.I440M|SYTL2_uc010rtj.1_Missense_Mutation_p.I392M|SYTL2_uc001pbf.3_Missense_Mutation_p.I440M|SYTL2_uc010rtf.1_Missense_Mutation_p.I298M	p.I440M	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	1596	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	440					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1320C>G	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	3.524	-0.097060	0.07010	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.26810	1.8;1.82;1.82;1.71;1.8	6.08	4.17	0.49024	.	.	.	.	.	T	0.21186	0.0510	L	0.44542	1.39	0.20926	N	0.99982	P;P;P;P;P	0.43519	0.712;0.809;0.589;0.712;0.712	B;B;B;B;B	0.39531	0.302;0.208;0.071;0.149;0.223	T	0.08534	-1.0717	8	.	.	.	.	8.1653	0.31222	0.079:0.0:0.7625:0.1585	.	392;440;440;441;298	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	M	440;441;440;392;440	ENSP00000374610:I440M;ENSP00000318803:I441M;ENSP00000431701:I440M;ENSP00000434010:I392M;ENSP00000435238:I440M	.	I	-	3	3	SYTL2	85122697	0.018000	0.18449	0.013000	0.15412	0.006000	0.05464	1.373000	0.34272	1.542000	0.49330	0.655000	0.94253	ATC		0.383	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		39	80	0	0	0	0.01441	0	39	80		
NAALAD2	10003	broad.mit.edu	37	11	89885588	89885588	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:89885588G>A	ENST00000534061.1	+	6	962	c.732G>A	c.(730-732)caG>caA	p.Q244Q	NAALAD2_ENST00000321955.4_Silent_p.Q244Q|NAALAD2_ENST00000525171.1_Silent_p.Q244Q|NAALAD2_ENST00000375944.3_Silent_p.Q244Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	244					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTGCAGCCCAGAGAGGAAATG	0.473																																						uc001pdf.3		NaN																	0				pancreas(1)|skin(1)	2						c.(730-732)CAG>CAA		N-acetylated alpha-linked acidic dipeptidase 2							101.0	90.0	94.0					11																	89885588		2201	4299	6500	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89885588G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.732G>A	11.37:g.89885588G>A						NAALAD2_uc009yvx.2_Silent_p.Q244Q|NAALAD2_uc009yvy.2_Silent_p.Q244Q|NAALAD2_uc001pdd.2_Silent_p.Q244Q|NAALAD2_uc001pde.2_Silent_p.Q244Q	p.Q244Q	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			6	841	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	244			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.732G>A	CCDS8288.1																																																																																				0.473	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2		NM_005467		14	72	0	0	0	0.006122	0	14	72		
CASP4	837	broad.mit.edu	37	11	104815563	104815563	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:104815563C>G	ENST00000444739.2	-	8	1961	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	CASP4_ENST00000393150.3_Missense_Mutation_p.E295Q	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	351					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CTTGGAGTTTCAAATGATTGC	0.403																																						uc001pid.1		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(1051-1053)GAA>CAA		caspase 4 isoform alpha precursor							132.0	115.0	121.0					11																	104815563		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104815563C>G	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.1051G>C	11.37:g.104815563C>G	ENSP00000388566:p.Glu351Gln					CASP4_uc001pib.1_Missense_Mutation_p.E295Q|CASP4_uc009yxg.1_Missense_Mutation_p.E260Q	p.E351Q	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	8	1124	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	351					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.1051G>C	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712875	0.68730	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.21932	1.98;1.98	5.46	5.46	0.80206	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.053051	0.64402	D	0.000001	T	0.46795	0.1411	M	0.83223	2.63	0.42485	D	0.992875	D	0.71674	0.998	D	0.72982	0.979	T	0.50508	-0.8820	10	0.66056	D	0.02	.	10.2619	0.43431	0.0:0.9098:0.0:0.0902	.	351	P49662	CASP4_HUMAN	Q	351;295;304	ENSP00000388566:E351Q;ENSP00000376857:E295Q	ENSP00000347741:E304Q	E	-	1	0	CASP4	104320773	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	1.532000	0.36029	2.545000	0.85829	0.555000	0.69702	GAA		0.403	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1		NM_001225		5	27	0	0	0	0.001984	0	5	27		
GLB1L3	112937	broad.mit.edu	37	11	134180464	134180464	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:134180464G>C	ENST00000431683.2	+	12	1099		c.e12-1			NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3						carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGTCTTGCAGACTATGATGC	0.522																																						uc009zdf.2		NaN																	0				pancreas(1)	1						c.e12-1		galactosidase, beta 1 like 3							42.0	45.0	44.0					11																	134180464		2072	4249	6321	SO:0001630	splice_region_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134180464G>C		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1100-1G>C	11.37:g.134180464G>C						GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_Splice_Site	p.D367_splice	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	12	1460	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)						A6NEM0|A6NN15|Q6P3S3|Q96FF8	Splice_Site	SNP	ENST00000431683.2	37	c.1100_splice	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075148	0.55646	.	.	ENSG00000166105	ENST00000431683	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1076	0.59255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLB1L3	133685674	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.939000	0.75911	2.528000	0.85240	0.455000	0.32223	.		0.522	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1		NM_138416	Intron	6	17	0	0	0	0.00308	0	6	17		
CHD4	1108	broad.mit.edu	37	12	6705273	6705273	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:6705273C>G	ENST00000357008.2	-	13	2086	c.1923G>C	c.(1921-1923)ttG>ttC	p.L641F	CHD4_ENST00000309577.6_Missense_Mutation_p.L641F|CHD4_ENST00000544040.1_Missense_Mutation_p.L634F|CHD4_ENST00000544484.1_Missense_Mutation_p.L638F	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	641	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCCACTTGATCAAGTAGTGGA	0.507																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(1921-1923)TTG>TTC		chromodomain helicase DNA binding protein 4							131.0	108.0	116.0					12																	6705273		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6705273C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1923G>C	12.37:g.6705273C>G	ENSP00000349508:p.Leu641Phe					CHD4_uc001qpn.2_Missense_Mutation_p.L634F|CHD4_uc001qpp.2_Missense_Mutation_p.L638F	p.L641F	NM_001273	NP_001264	Q14839	CHD4_HUMAN			13	2087	-			641			Chromo 2.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.1923G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312203	0.60414	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	4.89	2.04	0.26737	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000007	D	0.87034	0.6077	M	0.71871	2.18	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.996	T	0.82888	-0.0234	10	0.54805	T	0.06	1.8711	3.949	0.09361	0.279:0.4915:0.0:0.2295	.	641;641;634	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	F	638;634;641;641;615	ENSP00000440392:L638F;ENSP00000440542:L634F;ENSP00000312419:L641F;ENSP00000349508:L641F	ENSP00000312419:L641F	L	-	3	2	CHD4	6575534	0.996000	0.38824	0.992000	0.48379	0.990000	0.78478	0.913000	0.28611	0.116000	0.18110	0.655000	0.94253	TTG		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		31	75	0	0	0	0.013726	0	31	75		
CHD4	1108	broad.mit.edu	37	12	6705294	6705294	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:6705294C>G	ENST00000357008.2	-	13	2065	c.1902G>C	c.(1900-1902)aaG>aaC	p.K634N	CHD4_ENST00000309577.6_Missense_Mutation_p.K634N|CHD4_ENST00000544040.1_Missense_Mutation_p.K627N|CHD4_ENST00000544484.1_Missense_Mutation_p.K631N	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	634	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CGTGGCCCTTCTTGTCCACAC	0.507																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(1900-1902)AAG>AAC		chromodomain helicase DNA binding protein 4							111.0	91.0	98.0					12																	6705294		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6705294C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1902G>C	12.37:g.6705294C>G	ENSP00000349508:p.Lys634Asn					CHD4_uc001qpn.2_Missense_Mutation_p.K627N|CHD4_uc001qpp.2_Missense_Mutation_p.K631N	p.K634N	NM_001273	NP_001264	Q14839	CHD4_HUMAN			13	2066	-			634			Chromo 2.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.1902G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346160	0.61073	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.28	3.39	0.38822	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.062767	0.64402	D	0.000004	D	0.88043	0.6331	M	0.87547	2.89	0.54753	D	0.999984	D;D;D	0.76494	0.996;0.993;0.999	P;D;D	0.78314	0.866;0.928;0.991	D	0.88708	0.3220	10	0.56958	D	0.05	-5.0984	12.0251	0.53365	0.0:0.9156:0.0:0.0844	.	634;634;627	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	N	631;627;634;634;608	ENSP00000440392:K631N;ENSP00000440542:K627N;ENSP00000312419:K634N;ENSP00000349508:K634N	ENSP00000312419:K634N	K	-	3	2	CHD4	6575555	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.557000	0.45871	1.006000	0.39211	-0.218000	0.12543	AAG		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		27	65	0	0	0	0.007291	0	27	65		
CD163	9332	broad.mit.edu	37	12	7640120	7640120	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:7640120C>A	ENST00000359156.4	-	8	2087	c.1885G>T	c.(1885-1887)Gcc>Tcc	p.A629S	CD163_ENST00000396620.3_Missense_Mutation_p.A662S|CD163_ENST00000541972.1_Missense_Mutation_p.A617S|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.A629S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	629	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GTAGAAAGGGCAACTCCACAT	0.507																																						uc001qsz.3		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1885-1887)GCC>TCC		CD163 antigen isoform a							148.0	137.0	141.0					12																	7640120		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640120C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1885G>T	12.37:g.7640120C>A	ENSP00000352071:p.Ala629Ser					CD163_uc001qta.3_Missense_Mutation_p.A629S|CD163_uc009zfw.2_Missense_Mutation_p.A662S	p.A629S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			8	2013	-			629			SRCR 6.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1885G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287526	0.80803	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.21	5.21	0.72293	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.075287	0.56097	D	0.000039	T	0.63105	0.2483	M	0.80616	2.505	0.51012	D	0.999902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66240	-0.5973	10	0.56958	D	0.05	.	16.6253	0.84968	0.0:1.0:0.0:0.0	.	662;629;629	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	S	629;617;662;629	ENSP00000352071:A629S;ENSP00000444071:A617S;ENSP00000379863:A662S;ENSP00000403885:A629S	ENSP00000352071:A629S	A	-	1	0	CD163	7531387	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.826000	0.69293	2.592000	0.87571	0.655000	0.94253	GCC		0.507	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		28	116	1	0	2.61193e-14	0.009535	2.79603e-14	28	116		
APOBEC1	339	broad.mit.edu	37	12	7805382	7805382	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:7805382G>T	ENST00000229304.4	-	3	114	c.94C>A	c.(94-96)Ctt>Att	p.L32I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	32					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCTTTACGAAGTTCTCTGGGG	0.478																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2		NaN																	0					0						c.(94-96)CTT>ATT		apolipoprotein B mRNA editing enzyme							46.0	47.0	47.0					12																	7805382		2203	4298	6501	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805382G>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.94C>A	12.37:g.7805382G>T	ENSP00000229304:p.Leu32Ile					APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.L32I	p.L32I	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	128	-			32					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.94C>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772899	0.31411	.	.	ENSG00000111701	ENST00000229304	T	0.65732	-0.17	4.48	2.63	0.31362	APOBEC-like, N-terminal (1);	0.142736	0.32548	N	0.005949	T	0.64875	0.2638	M	0.75447	2.3	0.09310	N	1	P	0.46859	0.885	P	0.51324	0.666	T	0.54262	-0.8320	10	0.18710	T	0.47	-16.1424	7.195	0.25847	0.2118:0.0:0.7882:0.0	.	32	P41238	ABEC1_HUMAN	I	32	ENSP00000229304:L32I	ENSP00000229304:L32I	L	-	1	0	APOBEC1	7696649	0.042000	0.20092	0.011000	0.14972	0.240000	0.25518	1.647000	0.37260	0.453000	0.26858	0.462000	0.41574	CTT		0.478	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1		NM_001644		20	54	1	0	2.24059e-21	0.00632	2.44154e-21	20	54		
PKP2	5318	broad.mit.edu	37	12	32977077	32977077	+	Missense_Mutation	SNP	C	C	T	rs558637427		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:32977077C>T	ENST00000070846.6	-	8	1732	c.1708G>A	c.(1708-1710)Gct>Act	p.A570T	PKP2_ENST00000340811.4_Missense_Mutation_p.A526T	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	570					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCCCATCAGCGCCAGCAGAA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18395	0.001		0.0	False		,,,				2504	0.0					uc001rlj.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1708-1710)GCT>ACT		plakophilin 2 isoform 2b							123.0	106.0	112.0					12																	32977077		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32977077C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1708G>A	12.37:g.32977077C>T	ENSP00000070846:p.Ala570Thr					PKP2_uc001rlk.3_Missense_Mutation_p.A526T|PKP2_uc010skj.1_Missense_Mutation_p.A526T	p.A570T	NM_004572	NP_004563	Q99959	PKP2_HUMAN			8	1823	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		570					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1708G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908366	0.92107	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.75938	-0.98;-0.98	5.62	2.76	0.32466	Armadillo-like helical (1);Armadillo-type fold (1);	0.053541	0.85682	D	0.000000	T	0.60038	0.2238	L	0.29908	0.895	0.22240	N	0.999262	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.50642	-0.8804	10	0.51188	T	0.08	-15.4596	8.6786	0.34194	0.1279:0.2334:0.6387:0.0	.	526;526;570	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	T	526;570;570	ENSP00000342800:A526T;ENSP00000070846:A570T	ENSP00000070846:A570T	A	-	1	0	PKP2	32868344	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	4.485000	0.60279	0.053000	0.16036	-0.127000	0.14921	GCT		0.413	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1		NM_004572		23	40	0	0	0	0.021523	0	23	40		
KRT80	144501	broad.mit.edu	37	12	52574698	52574698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:52574698G>A	ENST00000394815.2	-	3	656	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	KRT80_ENST00000313234.5_Nonsense_Mutation_p.Q187*	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	187	Coil 1B.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TTCTTCAGCTGAACAAAGGTG	0.582																																					GBM(178;2309 2916 15678 35873)	uc001rzx.2		NaN																	0					0						c.(559-561)CAG>TAG		keratin 80 isoform a							59.0	51.0	54.0					12																	52574698		2203	4300	6503	SO:0001587	stop_gained	144501					keratin filament	structural molecule activity	g.chr12:52574698G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.559C>T	12.37:g.52574698G>A	ENSP00000378292:p.Gln187*					KRT80_uc001rzw.2_Nonsense_Mutation_p.Q124*|KRT80_uc001rzy.2_Nonsense_Mutation_p.Q187*	p.Q187*	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	3	657	-			187			Coil 1B.|Rod.		Q6P1A5|Q7Z3Q0	Nonsense_Mutation	SNP	ENST00000394815.2	37	c.559C>T	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412858	0.62511	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	.	.	.	3.89	3.89	0.44902	.	0.000000	0.31450	N	0.007631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.7157	12.4653	0.55755	0.0:0.184:0.816:0.0	.	.	.	.	X	187	.	ENSP00000369361:Q187X	Q	-	1	0	KRT80	50860965	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	4.012000	0.57131	2.466000	0.83321	0.563000	0.77884	CAG		0.582	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1		NM_182507		24	40	0	0	0	0.007291	0	24	40		
KRT80	144501	broad.mit.edu	37	12	52574708	52574708	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:52574708G>A	ENST00000394815.2	-	3	646	c.549C>T	c.(547-549)ttC>ttT	p.F183F	KRT80_ENST00000313234.5_Silent_p.F183F	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	183	Coil 1B.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GAACAAAGGTGAACTCCATGT	0.592																																					GBM(178;2309 2916 15678 35873)	uc001rzx.2		NaN																	0					0						c.(547-549)TTC>TTT		keratin 80 isoform a							61.0	53.0	55.0					12																	52574708		2203	4300	6503	SO:0001819	synonymous_variant	144501					keratin filament	structural molecule activity	g.chr12:52574708G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.549C>T	12.37:g.52574708G>A						KRT80_uc001rzw.2_Silent_p.F120F|KRT80_uc001rzy.2_Silent_p.F183F	p.F183F	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	3	647	-			183			Coil 1B.|Rod.		Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	c.549C>T	CCDS8821.2																																																																																				0.592	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1		NM_182507		24	43	0	0	0	0.008361	0	24	43		
OR9K2	441639	broad.mit.edu	37	12	55523876	55523876	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:55523876C>T	ENST00000305377.5	+	1	412	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGGCTATGATCAACTTCTGGT	0.453																																						uc010spe.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(322-324)ATC>ATT		olfactory receptor, family 9, subfamily K,							136.0	137.0	136.0					12																	55523876		2203	4300	6503	SO:0001819	synonymous_variant	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55523876C>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.324C>T	12.37:g.55523876C>T							p.I108I	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	324	+			108			Extracellular (Potential).		B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	c.324C>T	CCDS31814.1																																																																																				0.453	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1				16	64	0	0	0	0.028581	0	16	64		
PAN2	9924	broad.mit.edu	37	12	56721825	56721825	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:56721825A>T	ENST00000425394.2	-	5	981	c.605T>A	c.(604-606)aTg>aAg	p.M202K	PAN2_ENST00000257931.5_Missense_Mutation_p.M202K|PAN2_ENST00000548043.1_Missense_Mutation_p.M202K|PAN2_ENST00000440411.3_Missense_Mutation_p.M202K	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGTCTGTCTCATGATGGTGAC	0.507																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(604-606)ATG>AAG		PAN2 polyA specific ribonuclease subunit homolog							105.0	100.0	102.0					12																	56721825		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56721825A>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.605T>A	12.37:g.56721825A>T	ENSP00000401721:p.Met202Lys					PAN2_uc001skz.2_Missense_Mutation_p.M202K|PAN2_uc001sky.2_Missense_Mutation_p.M202K	p.M202K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			5	978	-			202						Missense_Mutation	SNP	ENST00000425394.2	37	c.605T>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925796	0.73213	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.043429	0.85682	D	0.000000	T	0.41190	0.1148	M	0.67397	2.05	0.80722	D	1	B;B;B	0.32160	0.083;0.003;0.358	B;B;B	0.24006	0.029;0.013;0.05	T	0.46596	-0.9180	10	0.87932	D	0	-20.0019	14.0766	0.64893	1.0:0.0:0.0:0.0	.	202;202;202	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	K	202;202;202;202;63	ENSP00000401721:M202K;ENSP00000388231:M202K;ENSP00000257931:M202K;ENSP00000449861:M202K;ENSP00000449092:M63K	ENSP00000257931:M202K	M	-	2	0	PAN2	55008092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.970000	0.93415	2.022000	0.59522	0.533000	0.62120	ATG		0.507	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		6	33	0	0	0	0.001984	0	6	33		
MON2	23041	broad.mit.edu	37	12	62986494	62986494	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:62986494C>G	ENST00000393632.2	+	35	5510	c.5119C>G	c.(5119-5121)Cca>Gca	p.P1707A	MON2_ENST00000393629.2_Missense_Mutation_p.P1701A|MON2_ENST00000551397.1_Missense_Mutation_p.P81A|MON2_ENST00000552738.1_Missense_Mutation_p.P1678A|MON2_ENST00000393630.3_Missense_Mutation_p.P1708A|MON2_ENST00000546600.1_3'UTR	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1707					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTCATGCAGCCACCAGCATC	0.393																																						uc001sre.2		NaN																	0				central_nervous_system(2)	2						c.(5119-5121)CCA>GCA		MON2 homolog							110.0	103.0	105.0					12																	62986494		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62986494C>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.5119C>G	12.37:g.62986494C>G	ENSP00000377252:p.Pro1707Ala					MON2_uc009zqj.2_3'UTR|MON2_uc010ssl.1_Missense_Mutation_p.P1635A|MON2_uc010ssm.1_Missense_Mutation_p.P1678A|MON2_uc010ssn.1_Missense_Mutation_p.P1701A|MON2_uc001srf.2_Missense_Mutation_p.P1470A|MON2_uc001srg.2_Missense_Mutation_p.P576A	p.P1707A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	35	5510	+			1708					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.5119C>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715050	0.48622	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000551397	T;T;T;T	0.56776	0.45;0.45;0.44;0.45	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	L	0.29908	0.895	0.80722	D	1	B;B;P;B	0.40970	0.282;0.404;0.734;0.404	B;B;B;B	0.43478	0.102;0.206;0.421;0.206	T	0.35226	-0.9797	9	.	.	.	-16.2908	19.5638	0.95384	0.0:1.0:0.0:0.0	.	1701;1678;576;1707	B9EGP5;F8VWA6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.	A	1707;1708;670;1678;1701;81	ENSP00000377252:P1707A;ENSP00000377250:P1708A;ENSP00000449215:P1678A;ENSP00000377249:P1701A	.	P	+	1	0	MON2	61272761	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	7.736000	0.84948	2.608000	0.88229	0.650000	0.86243	CCA		0.393	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3		NM_015026		23	42	0	0	0	0.00632	0	23	42		
DOCK9	23348	broad.mit.edu	37	13	99459962	99459962	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr13:99459962C>G	ENST00000376460.1	-	51	5589	c.5509G>C	c.(5509-5511)Gat>Cat	p.D1837H	DOCK9_ENST00000339416.2_Missense_Mutation_p.D1824H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1838	DHR-2.				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)					CCAAATTTATCCGAGTACAGT	0.373																																						uc001vnt.2		NaN																	0				central_nervous_system(1)	1						c.(5512-5514)GAT>CAT		dedicator of cytokinesis 9 isoform a							152.0	145.0	147.0					13																	99459962		1829	4085	5914	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99459962C>G	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.5509G>C	13.37:g.99459962C>G	ENSP00000365643:p.Asp1837His					DOCK9_uc001vnw.2_Missense_Mutation_p.D1837H|DOCK9_uc001vnq.2_Missense_Mutation_p.D385H|DOCK9_uc001vnr.2_Missense_Mutation_p.D467H|DOCK9_uc010tin.1_Missense_Mutation_p.D456H|DOCK9_uc001vns.2_Missense_Mutation_p.D373H|DOCK9_uc010tio.1_Missense_Mutation_p.D493H|DOCK9_uc010tip.1_Missense_Mutation_p.D534H	p.D1838H	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			50	5567	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1838			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5512G>C	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.038277|4.038277	0.75617|0.75617	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000451563|ENST00000400228	T;T|.	0.15834|.	2.39;2.46|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.158011|.	0.56097|.	D|.	0.000033|.	T|T	0.76047|0.76047	0.3933|0.3933	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;P;D;P;P;P|.	0.63880|.	0.989;0.921;0.993;0.726;0.875;0.952|.	P;P;D;P;P;D|.	0.63877|.	0.823;0.823;0.919;0.497;0.647;0.914|.	T|T	0.74959|0.74959	-0.3486|-0.3486	10|5	0.87932|.	D|.	0|.	.|.	19.1919|19.1919	0.93671|0.93671	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	543;456;1837;1838;493;455|.	B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4|.	.;.;.;DOCK9_HUMAN;.;.|.	H|A	1837;1838;1830;1815;1837;745;1824;455;188|399	ENSP00000365643:D1837H;ENSP00000341086:D1824H|.	ENSP00000341086:D1824H|.	D|G	-|-	1|2	0|0	DOCK9|DOCK9	98257963|98257963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.463000|7.463000	0.80869|0.80869	2.539000|2.539000	0.85634|0.85634	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.373	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1		NM_015296		9	39	0	0	0	0.008291	0	9	39		
FBN1	2200	broad.mit.edu	37	15	48779383	48779383	+	Missense_Mutation	SNP	C	C	T	rs193922199		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:48779383C>T	ENST00000316623.5	-	29	3933	c.3478G>A	c.(3478-3480)Gag>Aag	p.E1160K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1160	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCACTCAGCTCACATTCATTG	0.468																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(3478-3480)GAG>AAG		fibrillin 1 precursor							85.0	77.0	80.0					15																	48779383		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48779383C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3478G>A	15.37:g.48779383C>T	ENSP00000325527:p.Glu1160Lys						p.E1160K	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	29	3806	-		all_lung(180;0.00279)	1160			EGF-like 18; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3478G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643538	0.67244	.	.	ENSG00000166147	ENST00000316623	D	0.91996	-2.95	5.3	5.3	0.74995	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.258978	0.43579	D	0.000560	D	0.86306	0.5901	N	0.16130	0.375	0.80722	D	1	B	0.19583	0.037	B	0.22152	0.038	T	0.81028	-0.1118	10	0.38643	T	0.18	.	18.7483	0.91802	0.0:1.0:0.0:0.0	.	1160	P35555	FBN1_HUMAN	K	1160	ENSP00000325527:E1160K	ENSP00000325527:E1160K	E	-	1	0	FBN1	46566675	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	2.965000	0.49200	2.758000	0.94735	0.655000	0.94253	GAG		0.468	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				7	63	0	0	0	0.008291	0	7	63		
FBN1	2200	broad.mit.edu	37	15	48888548	48888548	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:48888548C>G	ENST00000316623.5	-	6	925	c.470G>C	c.(469-471)gGa>gCa	p.G157A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	157	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACCTTCCTCCATTGAGACA	0.418																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(469-471)GGA>GCA		fibrillin 1 precursor							104.0	96.0	99.0					15																	48888548		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48888548C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.470G>C	15.37:g.48888548C>G	ENSP00000325527:p.Gly157Ala						p.G157A	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	6	798	-		all_lung(180;0.00279)	157			EGF-like 3.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.470G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242948	0.95272	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;D	0.93547	-3.24;-1.55	5.87	5.87	0.94306	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	H	0.96889	3.9	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98346	1.0541	10	0.59425	D	0.04	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	157	P35555	FBN1_HUMAN	A	157	ENSP00000325527:G157A;ENSP00000440294:G157A	ENSP00000325527:G157A	G	-	2	0	FBN1	46675840	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.246000	0.78247	2.785000	0.95823	0.655000	0.94253	GGA		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				3	60	0	0	0	0.009096	0	3	60		
USP8	9101	broad.mit.edu	37	15	50782585	50782585	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:50782585G>C	ENST00000396444.3	+	14	2435	c.2097G>C	c.(2095-2097)aaG>aaC	p.K699N	USP8_ENST00000425032.3_Missense_Mutation_p.K593N|USP8_ENST00000433963.1_Missense_Mutation_p.K699N|USP8_ENST00000307179.4_Missense_Mutation_p.K699N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	699					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATAAAGCCAAGCCACAGATTC	0.498																																						uc001zym.3		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(2095-2097)AAG>AAC		ubiquitin specific peptidase 8							112.0	108.0	110.0					15																	50782585		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782585G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2097G>C	15.37:g.50782585G>C	ENSP00000379721:p.Lys699Asn					USP8_uc001zyl.3_Missense_Mutation_p.K699N|USP8_uc001zyn.3_Missense_Mutation_p.K699N|USP8_uc010ufh.1_Missense_Mutation_p.K593N|USP8_uc001zyp.3_5'Flank	p.K699N	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	15	2597	+			699					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2097G>C	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975919	0.74360	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.02890	4.12;4.12;4.12;4.12	5.6	3.73	0.42828	.	0.095978	0.64402	D	0.000001	T	0.04770	0.0129	L	0.32530	0.975	0.43103	D	0.994795	D;D	0.65815	0.965;0.995	P;P	0.53102	0.526;0.718	T	0.57619	-0.7780	10	0.24483	T	0.36	-19.7449	10.4084	0.44278	0.2102:0.0:0.7898:0.0	.	593;699	B4DKA8;P40818	.;UBP8_HUMAN	N	699;699;699;593	ENSP00000379721:K699N;ENSP00000405537:K699N;ENSP00000302239:K699N;ENSP00000412682:K593N	ENSP00000302239:K699N	K	+	3	2	USP8	48569877	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.174000	0.42482	0.834000	0.34852	-0.145000	0.13849	AAG		0.498	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154		17	64	0	0	0	0.010504	0	17	64		
SNX22	79856	broad.mit.edu	37	15	64446167	64446167	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:64446167C>T	ENST00000325881.4	+	6	485	c.426C>T	c.(424-426)ttC>ttT	p.F142F	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	142					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						TCCTGAGCTTCCATGTGGATC	0.612											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.(424-426)TTC>TTT		sorting nexin 22							130.0	130.0	130.0					15																	64446167		2203	4300	6503	SO:0001819	synonymous_variant	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446167C>T	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.426C>T	15.37:g.64446167C>T			OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	SNX22_uc002amz.1_Silent_p.F114F|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	p.F142F	NM_024798	NP_079074	Q96L94	SNX22_HUMAN			6	485	+			142					Q8WUS9|Q9H844	Silent	SNP	ENST00000325881.4	37	c.426C>T	CCDS10190.1																																																																																				0.612	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2		NM_024798		34	176	0	0	0	0.011902	0	34	176		
MTFMT	123263	broad.mit.edu	37	15	65316099	65316099	+	Silent	SNP	C	C	T	rs200928562		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:65316099C>T	ENST00000220058.4	-	3	466	c.453G>A	c.(451-453)ccG>ccA	p.P151P	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	151						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACGCCATCTCGGGAGGCAAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		18795	0.001		0.0	False		,,,				2504	0.0					uc002aof.3		NaN																	0				ovary(2)	2						c.(451-453)CCG>CCA		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						76.0	74.0	74.0					15																	65316099		1928	4136	6064	SO:0001819	synonymous_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65316099C>T	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.453G>A	15.37:g.65316099C>T							p.P151P	NM_139242	NP_640335	Q96DP5	FMT_HUMAN			3	479	-			151					B7Z734	Silent	SNP	ENST00000220058.4	37	c.453G>A	CCDS45280.1																																																																																				0.438	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1		NM_139242		5	13	0	0	0	0.014758	0	5	13		
CCDC33	80125	broad.mit.edu	37	15	74554886	74554886	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:74554886G>C	ENST00000398814.3	+	3	722	c.291G>C	c.(289-291)gaG>gaC	p.E97D	CCDC33_ENST00000321288.5_Missense_Mutation_p.E300D	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	300										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGAATGTGGAGATCCAAGCTG	0.572																																						uc002axo.2		NaN																	0				ovary(3)|skin(2)	5						c.(289-291)GAG>GAC		coiled-coil domain containing 33 isoform 1							27.0	30.0	29.0					15																	74554886		2056	4188	6244	SO:0001583	missense	80125						protein binding	g.chr15:74554886G>C	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.291G>C	15.37:g.74554886G>C	ENSP00000381795:p.Glu97Asp						p.E97D	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			3	685	+			300			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.291G>C	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602484	0.46423	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.70986	-0.53;-0.53	4.67	2.78	0.32641	.	0.480074	0.15223	U	0.273836	T	0.66742	0.2820	M	0.65975	2.015	0.25708	N	0.985519	P	0.49961	0.93	P	0.44673	0.457	T	0.57505	-0.7800	10	0.37606	T	0.19	.	6.2275	0.20716	0.2245:0.0:0.7755:0.0	.	97	Q8N5R6-6	.	D	300;97	ENSP00000325012:E300D;ENSP00000381795:E97D	ENSP00000325012:E300D	E	+	3	2	CCDC33	72341939	0.995000	0.38212	0.958000	0.39756	0.496000	0.33645	1.305000	0.33493	0.957000	0.37930	0.462000	0.41574	GAG		0.572	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2		NM_182791		10	12	0	0	0	0.010729	0	10	12		
FAH	2184	broad.mit.edu	37	15	80465390	80465390	+	Silent	SNP	C	C	T	rs145851627		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:80465390C>T	ENST00000407106.1	+	10	896	c.741C>T	c.(739-741)ctC>ctT	p.L247L	FAH_ENST00000539156.1_Silent_p.L177L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.L247L|FAH_ENST00000261755.5_Silent_p.L247L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	247					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.L247L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTCCCTCTCGGGCCATTCC	0.572									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bfj.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)CTC>CTT		fumarylacetoacetase		C		0,4406		0,0,2203	168.0	147.0	154.0		741	-9.1	0.0	15	dbSNP_134	154	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAH	NM_000137.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		247/420	80465390	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465390C>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.741C>T	15.37:g.80465390C>T			OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_uc002bfk.1_Silent_p.L247L|FAH_uc002bfm.1_Silent_p.L247L|FAH_uc002bfn.1_Silent_p.L177L	p.L247L	NM_000137	NP_000128	P16930	FAAA_HUMAN			10	823	+			247					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.741C>T	CCDS10314.1																																																																																				0.572	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2				21	88	0	0	0	0.016522	0	21	88		
IGF1R	3480	broad.mit.edu	37	15	99452048	99452048	+	Missense_Mutation	SNP	G	G	A	rs187980012		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:99452048G>A	ENST00000268035.6	+	6	1993	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	IGF1R_ENST00000558762.1_Missense_Mutation_p.R461H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	461					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAAATTTACCGCATGGAGGAA	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		24834	0.0		0.001	False		,,,				2504	0.0					uc002bul.2		NaN																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(1381-1383)CGC>CAC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						99.0	84.0	89.0					15																	99452048		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99452048G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1382G>A	15.37:g.99452048G>A	ENSP00000268035:p.Arg461His					IGF1R_uc010urq.1_Missense_Mutation_p.R461H|IGF1R_uc010bon.2_Missense_Mutation_p.R461H|IGF1R_uc010urr.1_5'Flank	p.R461H	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		6	1432	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		461					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1382G>A	CCDS10378.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.21	3.332710	0.60853	.	.	ENSG00000140443	ENST00000268035	D	0.82526	-1.62	5.54	5.54	0.83059	EGF receptor, L domain (1);	0.000000	0.56097	D	0.000036	T	0.75317	0.3833	L	0.31752	0.955	0.58432	D	0.999997	B;B	0.30542	0.284;0.129	B;B	0.14023	0.004;0.01	T	0.72994	-0.4122	10	0.45353	T	0.12	.	19.4864	0.95030	0.0:0.0:1.0:0.0	.	461;461	C9J5X1;P08069	.;IGF1R_HUMAN	H	461	ENSP00000268035:R461H	ENSP00000268035:R461H	R	+	2	0	IGF1R	97269571	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.387000	0.59626	2.590000	0.87494	0.655000	0.94253	CGC		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875		3	25	0	0	0	0.014758	0	3	25		
SRRM2	23524	broad.mit.edu	37	16	2813668	2813668	+	Missense_Mutation	SNP	G	G	A	rs150618420		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:2813668G>A	ENST00000301740.8	+	11	3688	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1047	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						ACCACCAGGCGAGAGCTATTT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		21537	0.0		0.001	False		,,,				2504	0.0					uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3139-3141)GAG>AAG		splicing coactivator subunit SRm300		G	LYS/GLU	0,4396		0,0,2198	98.0	99.0	99.0		3139	3.3	0.1	16	dbSNP_134	99	4,8596	4.3+/-15.6	0,4,4296	yes	missense	SRRM2	NM_016333.3	56	0,4,6494	AA,AG,GG		0.0465,0.0,0.0308	benign	1047/2753	2813668	4,12992	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.chr16:2813668G>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.3139G>A	16.37:g.2813668G>A	ENSP00000301740:p.Glu1047Lys					SRRM2_uc002crj.1_Missense_Mutation_p.E951K|SRRM2_uc002crl.1_Missense_Mutation_p.E1047K|SRRM2_uc010bsu.1_Missense_Mutation_p.E951K	p.E1047K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3688	+			1047			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3139G>A	CCDS32373.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.53	1.374715	0.24857	0.0	4.65E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92545	-3.06	5.57	3.35	0.38373	.	0.396806	0.24102	N	0.041532	D	0.83681	0.5307	L	0.29908	0.895	0.09310	N	1	B	0.23806	0.091	B	0.14023	0.01	T	0.68104	-0.5497	10	0.23891	T	0.37	-5.2734	7.9859	0.30212	0.0967:0.1672:0.7361:0.0	.	1047	Q9UQ35	SRRM2_HUMAN	K	1047;1047;299	ENSP00000301740:E1047K	ENSP00000301740:E1047K	E	+	1	0	SRRM2	2753669	0.887000	0.30362	0.057000	0.19452	0.062000	0.15995	1.804000	0.38873	2.630000	0.89119	0.655000	0.94253	GAG		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				12	83	0	0	0	0.024245	0	12	83		
MMP25	64386	broad.mit.edu	37	16	3100442	3100442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:3100442G>A	ENST00000336577.4	+	4	793	c.556G>A	c.(556-558)Gac>Aac	p.D186N	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	199					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CTACCCCTTCGACGGGTTGGG	0.622																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2		NaN																	0					0						c.(556-558)GAC>AAC		matrix metalloproteinase 25 preproprotein							46.0	45.0	45.0					16																	3100442		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100442G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.556G>A	16.37:g.3100442G>A	ENSP00000337816:p.Asp186Asn					MMP25_uc002cti.1_Missense_Mutation_p.D122N	p.D186N	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			4	793	+			186					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.556G>A	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152652	0.78001	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.37752	1.18	4.96	4.96	0.65561	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.50627	D	0.000108	T	0.68796	0.3040	M	0.92122	3.275	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77918	-0.2408	10	0.87932	D	0	.	15.6704	0.77270	0.0:0.0:1.0:0.0	.	110;186	O43923;Q9NPA2	.;MMP25_HUMAN	N	186;113	ENSP00000337816:D186N	ENSP00000324953:D113N	D	+	1	0	MMP25	3040443	1.000000	0.71417	0.969000	0.41365	0.121000	0.20230	9.684000	0.98659	2.299000	0.77371	0.655000	0.94253	GAC		0.622	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1		NM_022468		34	62	0	0	0	0.007835	0	34	62		
RBBP6	5930	broad.mit.edu	37	16	24583041	24583041	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:24583041A>G	ENST00000319715.4	+	18	5086	c.4654A>G	c.(4654-4656)Aaa>Gaa	p.K1552E	RBBP6_ENST00000381039.3_Missense_Mutation_p.K712E|RBBP6_ENST00000348022.2_Missense_Mutation_p.K1518E	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1552					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTATGATACTAAACGGCCAAA	0.368																																						uc002dmh.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(4654-4656)AAA>GAA		retinoblastoma-binding protein 6 isoform 1							60.0	56.0	57.0					16																	24583041		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583041A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4654A>G	16.37:g.24583041A>G	ENSP00000317872:p.Lys1552Glu					RBBP6_uc002dmi.2_Missense_Mutation_p.K1518E|RBBP6_uc010bxr.2_Missense_Mutation_p.K712E|RBBP6_uc002dmk.2_Missense_Mutation_p.K1385E	p.K1552E	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5694	+			1552					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4654A>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149581	0.57151	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.21543	2.0;2.39;2.35	6.03	6.03	0.97812	.	0.138745	0.51477	D	0.000090	T	0.16981	0.0408	L	0.32530	0.975	0.29183	N	0.876348	P;P;P	0.52316	0.952;0.952;0.919	B;B;B	0.43413	0.419;0.419;0.152	T	0.08229	-1.0732	10	0.11485	T	0.65	-26.416	13.011	0.58731	0.8657:0.1343:0.0:0.0	.	712;1518;1552	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	E	712;1552;1518	ENSP00000370427:K712E;ENSP00000317872:K1552E;ENSP00000316291:K1518E	ENSP00000317872:K1552E	K	+	1	0	RBBP6	24490542	1.000000	0.71417	0.990000	0.47175	0.890000	0.51754	7.541000	0.82084	2.313000	0.78055	0.455000	0.32223	AAA		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910		13	33	0	0	0	0.024245	0	13	33		
HS3ST4	9951	broad.mit.edu	37	16	26147147	26147147	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:26147147A>C	ENST00000331351.5	+	2	1341	c.949A>C	c.(949-951)Aaa>Caa	p.K317Q	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	317					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GCTGGCCTTCAAAAACCGGAC	0.547																																						uc002dof.2		NaN																	0				large_intestine(1)|breast(1)	2						c.(949-951)AAA>CAA		heparan sulfate D-glucosaminyl							171.0	163.0	165.0					16																	26147147		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147147A>C	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.949A>C	16.37:g.26147147A>C	ENSP00000330606:p.Lys317Gln						p.K317Q	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1341	+			317			Lumenal (Potential).		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.949A>C	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643215	0.47153	.	.	ENSG00000182601	ENST00000331351	T	0.56103	0.48	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	T	0.56543	0.1992	M	0.62209	1.925	0.44745	D	0.997749	P	0.48162	0.906	P	0.46299	0.511	T	0.60146	-0.7320	10	0.48119	T	0.1	.	14.5047	0.67746	1.0:0.0:0.0:0.0	.	317	Q9Y661	HS3S4_HUMAN	Q	317	ENSP00000330606:K317Q	ENSP00000330606:K317Q	K	+	1	0	HS3ST4	26054648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.015000	0.59207	0.533000	0.62120	AAA		0.547	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2		NM_006040		72	170	0	0	0	0.01441	0	72	170		
PHKG2	5261	broad.mit.edu	37	16	30764566	30764566	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:30764566G>A	ENST00000563588.1	+	5	579	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PHKG2_ENST00000424889.3_Missense_Mutation_p.E114K|PHKG2_ENST00000328273.7_Missense_Mutation_p.E114K|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GCGGAAGGGAGAGCTGTTTGA	0.552																																						uc002dzk.1		NaN																	0				ovary(1)	1						c.(340-342)GAG>AAG		phosphorylase kinase, gamma 2 (testis)							47.0	45.0	46.0					16																	30764566		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30764566G>A	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.340G>A	16.37:g.30764566G>A	ENSP00000455607:p.Glu114Lys					PHKG2_uc002dzi.1_Missense_Mutation_p.E114K|PHKG2_uc002dzj.1_Missense_Mutation_p.E12K	p.E114K	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		5	433	+			114			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.340G>A	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495334	0.96355	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.41758	0.99;0.99	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000385	T	0.70386	0.3218	M	0.89534	3.04	0.80722	D	1	D;D	0.63880	0.989;0.993	D;P	0.63877	0.919;0.903	T	0.77387	-0.2607	10	0.87932	D	0	-19.7418	18.1103	0.89533	0.0:0.0:1.0:0.0	.	114;114	P15735;P15735-2	PHKG2_HUMAN;.	K	114	ENSP00000329968:E114K;ENSP00000388571:E114K	ENSP00000329968:E114K	E	+	1	0	PHKG2	30672067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.553000	0.86117	0.655000	0.94253	GAG		0.552	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2		NM_000294		13	39	0	0	0	0.028581	0	13	39		
ZNF646	9726	broad.mit.edu	37	16	31090265	31090265	+	Missense_Mutation	SNP	G	G	A	rs532190861		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:31090265G>A	ENST00000394979.2	+	1	3043	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E874K			O15015	ZN646_HUMAN	zinc finger protein 646	874					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TAGGCCTGGGGAGGCGACCTC	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21461	0.0		0.0	False		,,,				2504	0.0					uc002eap.2		NaN																	0				breast(2)	2						c.(2620-2622)GAG>AAG		zinc finger protein 646							51.0	55.0	54.0					16																	31090265		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090265G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2620G>A	16.37:g.31090265G>A	ENSP00000378429:p.Glu874Lys						p.E874K	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	2909	+			874					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.2620G>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.057729	0.76074	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09073	3.02;3.06	5.1	5.1	0.69264	.	.	.	.	.	T	0.06416	0.0165	L	0.32530	0.975	0.34172	D	0.669966	P	0.38335	0.627	B	0.32211	0.142	T	0.15838	-1.0423	9	0.66056	D	0.02	-17.5802	7.9065	0.29765	0.1764:0.0:0.8236:0.0	.	874	O15015-2	.	K	874	ENSP00000300850:E874K;ENSP00000378429:E874K	ENSP00000300850:E874K	E	+	1	0	ZNF646	30997766	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	1.764000	0.38471	2.380000	0.81148	0.563000	0.77884	GAG		0.647	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699		33	87	0	0	0	0.015359	0	33	87		
ZNF646	9726	broad.mit.edu	37	16	31090309	31090309	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:31090309G>C	ENST00000394979.2	+	1	3087	c.2664G>C	c.(2662-2664)atG>atC	p.M888I	ZNF646_ENST00000300850.5_Missense_Mutation_p.M888I			O15015	ZN646_HUMAN	zinc finger protein 646	888					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCTGTGGCATGATCTTCCCTG	0.637																																						uc002eap.2		NaN																	0				breast(2)	2						c.(2662-2664)ATG>ATC		zinc finger protein 646							38.0	40.0	40.0					16																	31090309		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090309G>C	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2664G>C	16.37:g.31090309G>C	ENSP00000378429:p.Met888Ile						p.M888I	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	2953	+			888			C2H2-type 16.		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.2664G>C		.	.	.	.	.	.	.	.	.	.	G	20.3	3.972394	0.74246	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.27402	1.67;1.67	5.25	5.25	0.73442	.	.	.	.	.	T	0.29556	0.0737	L	0.32530	0.975	0.35365	D	0.788552	P	0.42518	0.782	B	0.41764	0.366	T	0.33033	-0.9884	9	0.40728	T	0.16	-10.4057	17.6303	0.88104	0.0:0.0:1.0:0.0	.	888	O15015-2	.	I	888	ENSP00000300850:M888I;ENSP00000378429:M888I	ENSP00000300850:M888I	M	+	3	0	ZNF646	30997810	0.999000	0.42202	1.000000	0.80357	0.879000	0.50718	1.436000	0.34980	2.457000	0.83068	0.563000	0.77884	ATG		0.637	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699		16	59	0	0	0	0.00499	0	16	59		
NOB1	28987	broad.mit.edu	37	16	69776286	69776286	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:69776286C>T	ENST00000268802.5	-	9	1217	c.1188G>A	c.(1186-1188)cgG>cgA	p.R396R	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	396					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R396R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTAAGCGTCTCCGCCCAGCTC	0.587																																						uc002exs.2		NaN																	1	Substitution - coding silent(1)		cervix(1)		0						c.(1186-1188)CGG>CGA		nin one binding protein							48.0	48.0	48.0					16																	69776286		2198	4300	6498	SO:0001819	synonymous_variant	28987					nucleus	metal ion binding|protein binding	g.chr16:69776286C>T	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1188G>A	16.37:g.69776286C>T							p.R396R	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			9	1204	-			396					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	c.1188G>A	CCDS10884.1																																																																																				0.587	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2		NM_014062		11	37	0	0	0	0.020292	0	11	37		
PDPR	55066	broad.mit.edu	37	16	70190728	70190728	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:70190728C>T	ENST00000288050.4	+	19	3543	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	PDPR_ENST00000568530.1_Silent_p.F862F|PDPR_ENST00000542659.1_Silent_p.F207F|RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Silent_p.F220F|PDPR_ENST00000398122.3_Silent_p.F762F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	862					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCTCCCTCTTCACCCAGAAGC	0.562																																						uc002eyf.1		NaN																	0				breast(1)	1						c.(2584-2586)TTC>TTT		pyruvate dehydrogenase phosphatase regulatory							57.0	69.0	65.0					16																	70190728		2101	4227	6328	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190728C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2586C>T	16.37:g.70190728C>T						CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.F762F|PDPR_uc002eyg.1_Silent_p.F529F|PDPR_uc002eyh.2_Silent_p.F207F|PDPR_uc010vls.1_Silent_p.F207F	p.F862F	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3543	+			862					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.2586C>T	CCDS45520.1																																																																																				0.562	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1		NM_017990		4	30	0	0	0	0.021553	0	4	30		
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(574-576)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	p.Q192*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		15	32	0	0	0	0.006122	0	15	32		
TRPV2	51393	broad.mit.edu	37	17	16326850	16326850	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:16326850C>A	ENST00000338560.7	+	5	1092	c.693C>A	c.(691-693)aaC>aaA	p.N231K	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	231	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCCTGGAGAACCCACACCAGC	0.607																																						uc002gpy.2		NaN																	0				ovary(1)	1						c.(691-693)AAC>AAA		transient receptor potential cation channel,							59.0	53.0	55.0					17																	16326850		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16326850C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.693C>A	17.37:g.16326850C>A	ENSP00000342222:p.Asn231Lys					TRPV2_uc002gpz.2_Intron	p.N231K	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	1060	+			231			Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4.		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.693C>A	CCDS32576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.321170|3.321170	0.60634|0.60634	.|.	.|.	ENSG00000187688|ENSG00000187688	ENST00000338560|ENST00000455666	T|.	0.70869|.	-0.52|.	6.17|6.17	1.53|1.53	0.23141|0.23141	Ankyrin repeat-containing domain (4);|.	0.164709|.	0.64402|.	D|.	0.000004|.	T|T	0.33789|0.33789	0.0875|0.0875	N|N	0.16201|0.16201	0.385|0.385	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.04078|0.04078	-1.0979|-1.0979	10|5	0.48119|.	T|.	0.1|.	-22.1868|-22.1868	6.6446|6.6446	0.22929|0.22929	0.1185:0.5469:0.0:0.3346|0.1185:0.5469:0.0:0.3346	.|.	231|.	Q9Y5S1|.	TRPV2_HUMAN|.	K|T	231|189	ENSP00000342222:N231K|.	ENSP00000342222:N231K|.	N|P	+|+	3|1	2|0	TRPV2|TRPV2	16267575|16267575	0.039000|0.039000	0.19947|0.19947	0.776000|0.776000	0.31678|0.31678	0.570000|0.570000	0.35934|0.35934	0.364000|0.364000	0.20325|0.20325	0.498000|0.498000	0.27948|0.27948	0.655000|0.655000	0.94253|0.94253	AAC|CCC		0.607	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2		NM_016113		37	56	1	0	7.53189e-24	0.007835	8.28168e-24	37	56		
NF1	4763	broad.mit.edu	37	17	29701127	29701127	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:29701127G>C	ENST00000358273.4	+	58	8857	c.8474G>C	c.(8473-8475)aGa>aCa	p.R2825T	NF1_ENST00000356175.3_Missense_Mutation_p.R2804T|NF1_ENST00000444181.2_Missense_Mutation_p.R618T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2825					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.?(3)	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)		CAGAAGCAAAGAAGCGCTGGC	0.468			"""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		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(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.(8473-8475)AGA>ACA		neurofibromin isoform 1							94.0	90.0	92.0					17																	29701127		2203	4300	6503	SO:0001583	missense	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.chr17:29701127G>C		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.8474G>C	17.37:g.29701127G>C	ENSP00000351015:p.Arg2825Thr	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.R2804T|NF1_uc010cso.2_Missense_Mutation_p.R1031T|NF1_uc010wbu.1_RNA	p.R2825T	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)	58	8807	+		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)	2825					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8474G>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043942	0.75732	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.55234	2.96;3.11;2.79;0.53	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	L	0.29908	0.895	0.80722	D	1	D;D	0.57899	0.981;0.967	D;D	0.69142	0.962;0.916	T	0.58769	-0.7578	9	.	.	.	.	18.9627	0.92682	0.0:0.0:1.0:0.0	.	2804;2825	P21359-2;P21359	.;NF1_HUMAN	T	2825;2804;2488;618	ENSP00000351015:R2825T;ENSP00000348498:R2804T;ENSP00000389907:R2488T;ENSP00000396481:R618T	.	R	+	2	0	NF1	26725253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.472000	0.83506	0.655000	0.94253	AGA		0.468	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		9	49	0	0	0	0.010729	0	9	49		
LIG3	3980	broad.mit.edu	37	17	33318055	33318055	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:33318055G>C	ENST00000378526.4	+	5	1096	c.963G>C	c.(961-963)ttG>ttC	p.L321F	LIG3_ENST00000262327.5_Missense_Mutation_p.L321F	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	321					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTTACAACTTGAACGATAAGC	0.488								Other BER factors																														uc002hik.1		NaN																	0				skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(961-963)TTG>TTC	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						128.0	116.0	120.0					17																	33318055		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33318055G>C		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.963G>C	17.37:g.33318055G>C	ENSP00000367787:p.Leu321Phe					LIG3_uc002hij.2_Missense_Mutation_p.L321F|LIG3_uc010cth.1_Missense_Mutation_p.L330F	p.L321F	NM_013975	NP_039269	P49916	DNLI3_HUMAN			5	1071	+		Ovarian(249;0.17)	321					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.963G>C	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030402	0.75504	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.23552	1.9;1.9	5.65	4.68	0.58851	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.64402	D	0.000001	T	0.51584	0.1683	M	0.86268	2.805	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.56583	-0.7955	10	0.62326	D	0.03	-12.722	9.4263	0.38581	0.0748:0.1436:0.7816:0.0	.	321;321;321	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	F	321	ENSP00000367787:L321F;ENSP00000262327:L321F	ENSP00000262327:L321F	L	+	3	2	LIG3	30342168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.610000	0.46325	1.621000	0.50320	0.655000	0.94253	TTG		0.488	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3		NM_013975		35	66	0	0	0	0.027894	0	35	66		
SLFN5	162394	broad.mit.edu	37	17	33586688	33586688	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:33586688G>C	ENST00000299977.4	+	2	1127	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	SLFN5_ENST00000592325.1_Missense_Mutation_p.E327Q|SLFN5_ENST00000542451.1_Missense_Mutation_p.E327Q	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	327					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GCCCACAAGAGAATGGACTGC	0.517																																						uc002hjf.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(979-981)GAA>CAA		schlafen family member 5							106.0	100.0	102.0					17																	33586688		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586688G>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.979G>C	17.37:g.33586688G>C	ENSP00000299977:p.Glu327Gln					SLFN5_uc002hje.2_Missense_Mutation_p.E327Q|SLFN5_uc010wcg.1_Missense_Mutation_p.E327Q	p.E327Q	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	1096	+		Ovarian(249;0.17)	327					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.979G>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506664	0.26949	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.59502	0.26;0.26	3.21	-2.6	0.06190	.	1.105920	0.07168	N	0.851862	T	0.55641	0.1933	L	0.47716	1.5	0.09310	N	1	B;B;P	0.45569	0.01;0.01;0.861	B;B;P	0.53593	0.006;0.003;0.73	T	0.49244	-0.8960	10	0.28530	T	0.3	.	3.9268	0.09267	0.2926:0.3716:0.3359:0.0	.	327;327;327	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	Q	327	ENSP00000299977:E327Q;ENSP00000440537:E327Q	ENSP00000299977:E327Q	E	+	1	0	SLFN5	30610801	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.439000	0.06897	-0.620000	0.05641	-0.345000	0.07892	GAA		0.517	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2		NM_144975		29	107	0	0	0	0.009535	0	29	107		
HSD17B1	3292	broad.mit.edu	37	17	40705230	40705230	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:40705230G>A	ENST00000585807.1	+	2	3906	c.186G>A	c.(184-186)acG>acA	p.T62T	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.T62T|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	62					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	CCCTGGAGACGTTGCAGCTGG	0.647																																						uc002hzw.2		NaN																	0					0						c.(184-186)ACG>ACA		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						44.0	50.0	48.0					17																	40705230		2203	4299	6502	SO:0001819	synonymous_variant	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40705230G>A		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.186G>A	17.37:g.40705230G>A						HSD17B1_uc002hzx.2_Silent_p.T62T|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.N117N|HSD17B1_uc010cyi.2_Silent_p.T93T	p.T62T	NM_000413	NP_000404	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	2	1154	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	62					B3KXS1|Q2M2L8	Silent	SNP	ENST00000585807.1	37	c.186G>A	CCDS11428.1																																																																																				0.647	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1		NM_000413		37	77	0	0	0	0.01441	0	37	77		
HEXIM1	10614	broad.mit.edu	37	17	43226833	43226833	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:43226833G>C	ENST00000332499.2	+	1	2150	c.276G>C	c.(274-276)caG>caC	p.Q92H	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	92					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAAGGGCCAGAATGGGGACG	0.682											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iig.2		NaN																	0				ovary(1)	1						c.(274-276)CAG>CAC		hexamethylene bis-acetamide inducible 1							13.0	15.0	14.0					17																	43226833		2197	4297	6494	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43226833G>C	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.276G>C	17.37:g.43226833G>C	ENSP00000328773:p.Gln92His		OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.Q92H	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2150	+			92					B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.276G>C	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267419	0.23136	.	.	ENSG00000186834	ENST00000332499	.	.	.	3.98	3.0	0.34707	.	1.197490	0.06193	N	0.681785	T	0.39545	0.1082	L	0.44542	1.39	0.28905	N	0.893052	B	0.02656	0.0	B	0.06405	0.002	T	0.31724	-0.9933	9	0.15499	T	0.54	-8.3343	8.7558	0.34645	0.0:0.0:0.774:0.226	.	92	O94992	HEXI1_HUMAN	H	92	.	ENSP00000328773:Q92H	Q	+	3	2	HEXIM1	40582616	0.998000	0.40836	1.000000	0.80357	0.823000	0.46562	1.856000	0.39389	0.887000	0.36136	0.561000	0.74099	CAG		0.682	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2		NM_006460		4	29	0	0	0	0.009096	0	4	29		
HEXIM1	10614	broad.mit.edu	37	17	43227260	43227260	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:43227260G>T	ENST00000332499.2	+	1	2577	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	235	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAAATCCGACGACACCAGCGA	0.612																																						uc002iig.2		NaN																	0				ovary(1)	1						c.(703-705)GAC>TAC		hexamethylene bis-acetamide inducible 1							36.0	41.0	39.0					17																	43227260		2203	4299	6502	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227260G>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.703G>T	17.37:g.43227260G>T	ENSP00000328773:p.Asp235Tyr						p.D235Y	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2577	+			235			Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.703G>T	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913234	0.72983	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	.	0.341532	0.28940	N	0.013650	T	0.77631	0.4159	M	0.67397	2.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.80504	-0.1353	9	0.72032	D	0.01	-23.6783	16.2884	0.82736	0.0:0.0:1.0:0.0	.	235	O94992	HEXI1_HUMAN	Y	235	.	ENSP00000328773:D235Y	D	+	1	0	HEXIM1	40583043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.699000	0.84547	2.187000	0.69744	0.561000	0.74099	GAC		0.612	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2		NM_006460		14	73	1	0	1.37522e-17	0.007413	1.48524e-17	14	73		
LRRC37A2	474170	broad.mit.edu	37	17	44626216	44626216	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:44626216C>T	ENST00000576629.1	+	10	4206	c.3711C>T	c.(3709-3711)ttC>ttT	p.F1237F	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Silent_p.F1237F			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1237						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGCCTTCCTTCACCCAAGAGC	0.592																																						uc002ikn.1		NaN																	0					0						c.(3709-3711)TTC>TTT		c114 SLIT-like testicular protein precursor							68.0	110.0	96.0					17																	44626216		2186	4298	6484	SO:0001819	synonymous_variant	474170					integral to membrane		g.chr17:44626216C>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3711C>T	17.37:g.44626216C>T						ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.F198F|LRRC37A2_uc010dax.1_Silent_p.F167F	p.F1237F	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	3714	+		Melanoma(429;0.211)	1237			Extracellular (Potential).		B7ZMC3	Silent	SNP	ENST00000576629.1	37	c.3711C>T	CCDS42353.1																																																																																				0.592	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2		NM_001006607		15	129	0	0	0	0.007413	0	15	129		
DLX4	1748	broad.mit.edu	37	17	48047109	48047109	+	Missense_Mutation	SNP	G	G	A	rs145736583		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:48047109G>A	ENST00000240306.3	+	1	572	c.277G>A	c.(277-279)Gag>Aag	p.E93K	DLX4_ENST00000505318.2_Missense_Mutation_p.E93K|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	93				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TCAGGAACTCGAGGCAGGTAA	0.667																																						uc002ipv.2		NaN																	0					0						c.(277-279)GAG>AAG		distal-less homeobox 4 isoform a							36.0	40.0	39.0					17																	48047109		2202	4295	6497	SO:0001583	missense	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48047109G>A		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.277G>A	17.37:g.48047109G>A	ENSP00000240306:p.Glu93Lys						p.E93K	NM_138281	NP_612138	Q92988	DLX4_HUMAN			1	548	+			93	MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.277G>A	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	G	1.323	-0.598872	0.03744	.	.	ENSG00000108813	ENST00000240306	D	0.90620	-2.7	4.08	2.05	0.26809	.	.	.	.	.	T	0.78162	0.4240	N	0.20807	0.61	0.43133	D	0.994879	B	0.13594	0.008	B	0.08055	0.003	T	0.63699	-0.6578	9	0.07175	T	0.84	-2.5339	6.4854	0.22085	0.2288:0.0:0.7712:0.0	.	93	Q92988	DLX4_HUMAN	K	93	ENSP00000240306:E93K	ENSP00000240306:E93K	E	+	1	0	DLX4	45402108	0.326000	0.24669	0.403000	0.26384	0.099000	0.18886	0.325000	0.19628	0.375000	0.24679	0.305000	0.20034	GAG		0.667	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1				14	108	0	0	0	0.020292	0	14	108		
TOB1	10140	broad.mit.edu	37	17	48941096	48941096	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:48941096C>T	ENST00000268957.3	-	3	711	c.283G>A	c.(283-285)Gac>Aac	p.D95N	TOB1-AS1_ENST00000416263.3_RNA|TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Missense_Mutation_p.D95N	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	95					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCAAATGGGTCGATCCAAACA	0.428											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NaN																	0				large_intestine(1)	1						c.(283-285)GAC>AAC		transducer of ERBB2, 1							169.0	148.0	155.0					17																	48941096		2203	4300	6503	SO:0001583	missense	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48941096C>T	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.283G>A	17.37:g.48941096C>T	ENSP00000268957:p.Asp95Asn		OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	958	TOB1_uc010wmy.1_Missense_Mutation_p.D95N|TOB1_uc010wmz.1_Missense_Mutation_p.D95N	p.D95N	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	318	-			95					B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	c.283G>A	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833941	0.71373	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.69806	-0.43;-0.43	5.69	5.69	0.88448	Anti-proliferative protein (4);	0.000000	0.85682	D	0.000000	T	0.80808	0.4694	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	P	0.62491	0.903	T	0.82155	-0.0597	10	0.87932	D	0	.	19.8045	0.96525	0.0:1.0:0.0:0.0	.	95	P50616	TOB1_HUMAN	N	95	ENSP00000427695:D95N;ENSP00000268957:D95N	ENSP00000268957:D95N	D	-	1	0	TOB1	46296095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.676000	0.91093	0.655000	0.94253	GAC		0.428	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1				7	73	0	0	0	0.004482	0	7	73		
AKAP1	8165	broad.mit.edu	37	17	55183156	55183156	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:55183156C>T	ENST00000337714.3	+	2	564	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	AKAP1_ENST00000314126.3_Missense_Mutation_p.L111F|AKAP1_ENST00000571629.1_Missense_Mutation_p.L111F|AKAP1_ENST00000539273.1_Missense_Mutation_p.L111F|AKAP1_ENST00000572557.1_Missense_Mutation_p.L111F	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	111					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTCGGGCATTCTTCCTAACAC	0.547																																						uc002iux.2		NaN																	0				ovary(1)	1						c.(331-333)CTT>TTT		A-kinase anchor protein 1 precursor							114.0	92.0	99.0					17																	55183156		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183156C>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.331C>T	17.37:g.55183156C>T	ENSP00000337736:p.Leu111Phe					AKAP1_uc010wnl.1_Missense_Mutation_p.L111F|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.L111F	p.L111F	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	562	+	Breast(9;5.46e-08)		111					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.331C>T	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	c	14.03	2.414151	0.42817	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.18657	2.2;2.2;2.2	5.91	2.56	0.30785	.	0.450032	0.23764	N	0.044781	T	0.15869	0.0382	L	0.47190	1.495	0.09310	N	1	B	0.21753	0.06	B	0.17433	0.018	T	0.16012	-1.0417	10	0.31617	T	0.26	-9.8177	6.3871	0.21566	0.0:0.6489:0.1538:0.1973	.	111	Q92667	AKAP1_HUMAN	F	111;111;153;111	ENSP00000337736:L111F;ENSP00000314075:L111F;ENSP00000443139:L111F	ENSP00000314075:L111F	L	+	1	0	AKAP1	52538155	0.948000	0.32251	0.461000	0.27105	0.018000	0.09664	1.286000	0.33273	0.843000	0.35070	-0.119000	0.15052	CTT		0.547	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1				34	55	0	0	0	0.015359	0	34	55		
VEZF1	7716	broad.mit.edu	37	17	56056663	56056663	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:56056663C>T	ENST00000581208.1	-	5	1028	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	VEZF1_ENST00000584396.1_Missense_Mutation_p.E321K	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	330					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTGGTCTCTTCACTCATGCAT	0.443																																						uc002ivf.1		NaN																	0				ovary(1)|breast(1)	2						c.(988-990)GAA>AAA		zinc finger protein 161							97.0	101.0	100.0					17																	56056663		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056663C>T	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.988G>A	17.37:g.56056663C>T	ENSP00000462337:p.Glu330Lys					VEZF1_uc010dcn.1_Missense_Mutation_p.E180K	p.E330K	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			5	1131	-			330						Missense_Mutation	SNP	ENST00000581208.1	37	c.988G>A	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477460	0.44044	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.71	5.71	0.89125	.	0.718873	0.14368	N	0.323987	T	0.38108	0.1028	N	0.08118	0	0.46798	D	0.999205	B	0.19200	0.034	B	0.15484	0.013	T	0.26430	-1.0103	9	0.07644	T	0.81	0.6442	18.0404	0.89317	0.0:1.0:0.0:0.0	.	330	Q14119	VEZF1_HUMAN	K	330	.	ENSP00000258963:E330K	E	-	1	0	VEZF1	53411662	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.770000	0.62309	2.710000	0.92621	0.655000	0.94253	GAA		0.443	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1				25	49	0	0	0	0.027356	0	25	49		
NUP85	79902	broad.mit.edu	37	17	73231253	73231253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:73231253C>G	ENST00000245544.4	+	18	1897	c.1826C>G	c.(1825-1827)tCa>tGa	p.S609*	NUP85_ENST00000579298.1_Nonsense_Mutation_p.S564*|NUP85_ENST00000541827.1_Nonsense_Mutation_p.S563*|NUP85_ENST00000579324.1_Nonsense_Mutation_p.S497*|NUP85_ENST00000540768.1_Nonsense_Mutation_p.S212*|NUP85_ENST00000447371.2_3'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	609					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GACTTGACGTCAAGAAGACCT	0.522																																						uc002jng.1		NaN																	0				ovary(1)	1						c.(1825-1827)TCA>TGA		nucleoporin 85							182.0	156.0	165.0					17																	73231253		2203	4300	6503	SO:0001587	stop_gained	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73231253C>G	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1826C>G	17.37:g.73231253C>G	ENSP00000245544:p.Ser609*					NUP85_uc010dgd.1_Nonsense_Mutation_p.S564*|NUP85_uc010wrv.1_Nonsense_Mutation_p.S563*|NUP85_uc002jnh.1_Nonsense_Mutation_p.S212*	p.S609*	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		18	2086	+	all_lung(278;0.14)|Lung NSC(278;0.168)		609					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Nonsense_Mutation	SNP	ENST00000245544.4	37	c.1826C>G	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431601	0.83776	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.12	2.95	0.34219	.	0.402241	0.27567	N	0.018791	.	.	.	.	.	.	0.31637	N	0.648302	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-0.3229	10.3102	0.43704	0.1391:0.7809:0.0:0.08	.	.	.	.	X	609;563;212	.	ENSP00000245544:S609X	S	+	2	0	NUP85	70742848	0.061000	0.20836	0.025000	0.17156	0.251000	0.25915	2.766000	0.47629	1.339000	0.45563	0.462000	0.41574	TCA		0.522	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1		NM_024844		8	75	0	0	0	0.020292	0	8	75		
ITGB4	3691	broad.mit.edu	37	17	73738710	73738710	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:73738710G>A	ENST00000200181.3	+	25	3017	c.2830G>A	c.(2830-2832)Gta>Ata	p.V944I	ITGB4_ENST00000449880.2_Missense_Mutation_p.V944I|ITGB4_ENST00000579662.1_Missense_Mutation_p.V944I|ITGB4_ENST00000339591.3_Missense_Mutation_p.V944I|ITGB4_ENST00000450894.3_Missense_Mutation_p.V944I|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	944					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGTGGACGTACGGGTGCC	0.692																																						uc002jpg.2		NaN																	0				lung(4)	4						c.(2830-2832)GTA>ATA		integrin beta 4 isoform 1 precursor							84.0	64.0	71.0					17																	73738710		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73738710G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2830G>A	17.37:g.73738710G>A	ENSP00000200181:p.Val944Ile					ITGB4_uc002jph.2_Missense_Mutation_p.V944I|ITGB4_uc002jpi.3_Missense_Mutation_p.V944I|ITGB4_uc010dgp.1_Missense_Mutation_p.R956H|ITGB4_uc002jpj.2_Missense_Mutation_p.V944I	p.V944I	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3017	+	all_cancers(13;1.5e-07)		944			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2830G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238193	0.58886	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.77620	-1.11;-1.04;-1.04	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	D	0.83543	0.5277	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.994	D	0.83740	0.0203	10	0.49607	T	0.09	.	19.4284	0.94754	0.0:0.0:1.0:0.0	.	944;944;944	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	I	944	ENSP00000200181:V944I;ENSP00000344079:V944I;ENSP00000400217:V944I	ENSP00000200181:V944I	V	+	1	0	ITGB4	71250305	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	9.790000	0.99075	2.620000	0.88729	0.655000	0.94253	GTA		0.692	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1				4	120	0	0	0	0.021553	0	4	120		
DNAH17	8632	broad.mit.edu	37	17	76547693	76547693	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:76547693C>T	ENST00000585328.1	-	16	2439	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.R772Q	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	772	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATTTCTCGCACCTCTTG	0.433																																						uc002jvv.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(1420-1422)CGA>CAA		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							151.0	133.0	139.0					17																	76547693		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76547693C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2315G>A	17.37:g.76547693C>T	ENSP00000465516:p.Arg772Gln						p.R474Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		12	1527	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1421G>A		.	.	.	.	.	.	.	.	.	.	C	10.27	1.305018	0.23736	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.24151	1.87	4.78	4.78	0.61160	.	3.623300	0.01443	N	0.015165	T	0.42223	0.1193	L	0.59436	1.845	0.32716	N	0.511002	P	0.46621	0.881	P	0.48400	0.576	T	0.37267	-0.9713	10	0.25106	T	0.35	.	15.9629	0.79945	0.0:1.0:0.0:0.0	.	474	Q9UFH2-4	.	Q	772	ENSP00000374490:R772Q	ENSP00000300671:R772Q	R	-	2	0	DNAH17	74059288	1.000000	0.71417	0.976000	0.42696	0.081000	0.17604	4.856000	0.62932	2.351000	0.79841	0.462000	0.41574	CGA		0.433	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		7	76	0	0	0	0.006214	0	7	76		
SLC38A10	124565	broad.mit.edu	37	17	79256117	79256117	+	Missense_Mutation	SNP	G	G	A	rs141053452	byFrequency	TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:79256117G>A	ENST00000374759.3	-	5	756	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	SLC38A10_ENST00000546352.1_5'Flank|SLC38A10_ENST00000288439.5_Missense_Mutation_p.R125C	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	125					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGAACATGCGGAAGGTGCCG	0.682													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17530	0.0		0.001	False		,,,				2504	0.0					uc002jzz.1		NaN																	0				pancreas(1)|skin(1)	2						c.(373-375)CGC>TGC		solute carrier family 38, member 10 isoform a		G	CYS/ARG,CYS/ARG	0,4402	2.1+/-5.4	0,0,2201	50.0	41.0	44.0		373,373	5.2	0.9	17	dbSNP_134	44	16,8584	11.2+/-40.8	0,16,4284	yes	missense,missense	SLC38A10	NM_001037984.1,NM_138570.2	180,180	0,16,6485	AA,AG,GG		0.186,0.0,0.1231	probably-damaging,probably-damaging	125/1120,125/781	79256117	16,12986	2201	4300	6501	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79256117G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.373C>T	17.37:g.79256117G>A	ENSP00000363891:p.Arg125Cys					SLC38A10_uc002jzy.1_Missense_Mutation_p.R43C|SLC38A10_uc002kab.2_Missense_Mutation_p.R125C	p.R125C	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	748	-	all_neural(118;0.0804)|Melanoma(429;0.242)		125			Helical; (Potential).		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.373C>T	CCDS42397.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	23.5	4.422424	0.83559	0.0	0.00186	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T;T	0.02472	4.28;4.28;4.28	5.19	5.19	0.71726	.	0.000000	0.32161	U	0.006491	T	0.18341	0.0440	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.79108	0.992;0.843	T	0.00542	-1.1680	10	0.87932	D	0	-20.7344	18.7074	0.91644	0.0:0.0:1.0:0.0	.	125;125	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	C	125;125;77	ENSP00000363891:R125C;ENSP00000288439:R125C;ENSP00000439115:R77C	ENSP00000288439:R125C	R	-	1	0	SLC38A10	76870712	1.000000	0.71417	0.924000	0.36721	0.515000	0.34225	9.250000	0.95477	2.404000	0.81709	0.655000	0.94253	CGC		0.682	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570		9	16	0	0	0	0.006214	0	9	16		
PHLPP1	23239	broad.mit.edu	37	18	60642723	60642723	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr18:60642723G>C	ENST00000262719.5	+	16	4083	c.3849G>C	c.(3847-3849)ttG>ttC	p.L1283F	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L771F			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1283	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CCTTCACCTTGACCTCTGCTA	0.507																																						uc002lis.2		NaN																	0					0						c.(2311-2313)TTG>TTC		PH domain and leucine rich repeat protein							166.0	160.0	162.0					18																	60642723		2019	4187	6206	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60642723G>C	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3849G>C	18.37:g.60642723G>C	ENSP00000262719:p.Leu1283Phe						p.L771F	NM_194449	NP_919431	O60346	PHLP1_HUMAN			17	2491	+			1283			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2313G>C	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973606	0.74246	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.27557	1.66;1.66	5.18	5.18	0.71444	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.58104	0.2099	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64774	-0.6328	9	0.72032	D	0.01	-12.4219	5.5867	0.17279	0.1223:0.2007:0.6769:0.0	.	1283	O60346	PHLP1_HUMAN	F	771;1283	ENSP00000383170:L771F;ENSP00000262719:L1283F	ENSP00000262719:L1283F	L	+	3	2	PHLPP1	58793703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.037000	0.49775	2.693000	0.91896	0.555000	0.69702	TTG		0.507	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2		NM_194449		27	91	0	0	0	0.009535	0	27	91		
KDM4B	23030	broad.mit.edu	37	19	5135468	5135468	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:5135468C>G	ENST00000159111.4	+	15	2422	c.2204C>G	c.(2203-2205)tCt>tGt	p.S735C	KDM4B_ENST00000536461.1_Missense_Mutation_p.S769C	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	735					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGCTTCACCTCTGGCGGTGAG	0.642																																						uc002mbq.3		NaN																	0				lung(1)	1						c.(2203-2205)TCT>TGT		jumonji domain containing 2B							63.0	53.0	56.0					19																	5135468		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5135468C>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2204C>G	19.37:g.5135468C>G	ENSP00000159111:p.Ser735Cys					KDM4B_uc010xim.1_Missense_Mutation_p.S769C|KDM4B_uc002mbr.3_Missense_Mutation_p.S493C	p.S735C	NM_015015	NP_055830	O94953	KDM4B_HUMAN			15	2430	+			735			PHD-type 1.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2204C>G	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505777	0.44558	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.20200	2.1;2.09	4.22	4.22	0.49857	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.329619	0.29073	N	0.013232	T	0.33644	0.0870	M	0.73598	2.24	0.27232	N	0.959363	P;D	0.55172	0.91;0.97	B;P	0.47673	0.421;0.554	T	0.30794	-0.9966	10	0.49607	T	0.09	-22.139	16.5853	0.84726	0.0:1.0:0.0:0.0	.	769;735	F5GX28;O94953	.;KDM4B_HUMAN	C	735;769	ENSP00000159111:S735C;ENSP00000440495:S769C	ENSP00000159111:S735C	S	+	2	0	KDM4B	5086468	0.934000	0.31675	0.144000	0.22314	0.867000	0.49689	4.619000	0.61218	1.905000	0.55150	0.561000	0.74099	TCT		0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1		NM_015015		13	37	0	0	0	0.016723	0	13	37		
PTPRS	5802	broad.mit.edu	37	19	5244216	5244216	+	Silent	SNP	G	G	A	rs372632192		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:5244216G>A	ENST00000587303.1	-	10	1365	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	PTPRS_ENST00000262963.6_Silent_p.G418G|PTPRS_ENST00000592099.1_Silent_p.G409G|PTPRS_ENST00000348075.2_Silent_p.G409G|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.G422G|PTPRS_ENST00000588012.1_Silent_p.G409G|PTPRS_ENST00000353284.2_Silent_p.G409G|PTPRS_ENST00000372412.4_Silent_p.G423G			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	422	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGCCTGCTCGCCTGTGCGGG	0.711																																						uc002mbv.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1264-1266)GGC>GGT		protein tyrosine phosphatase, receptor type,		G	,,,	0,4398		0,0,2199	37.0	39.0	38.0		1266,1227,1227,1239	1.5	1.0	19		38	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,,	422/1949,409/1502,409/1911,413/1506	5244216	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244216G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1266C>T	19.37:g.5244216G>A						PTPRS_uc002mbu.1_Silent_p.G409G|PTPRS_uc010xin.1_Silent_p.G409G|PTPRS_uc002mbw.2_Silent_p.G409G|PTPRS_uc002mbx.2_Silent_p.G413G|PTPRS_uc002mby.2_Silent_p.G409G	p.G422G	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1500	-			422			Extracellular (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.1266C>T	CCDS45930.1																																																																																				0.711	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2				21	86	0	0	0	0.014323	0	21	86		
MUC16	94025	broad.mit.edu	37	19	9077046	9077046	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:9077046C>G	ENST00000397910.4	-	3	10603	c.10400G>C	c.(10399-10401)gGa>gCa	p.G3467A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3468	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTTGGTCTCCAGAGGGCAG	0.507																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10399-10401)GGA>GCA		mucin 16							121.0	117.0	118.0					19																	9077046		2098	4224	6322	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077046C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10400G>C	19.37:g.9077046C>G	ENSP00000381008:p.Gly3467Ala						p.G3467A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10604	-			3468			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10400G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.635	0.118125	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.03413	3.94	2.13	-1.52	0.08637	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.38755	0.281	T	0.42899	-0.9424	8	0.87932	D	0	.	2.9698	0.05919	0.0:0.3688:0.2602:0.371	.	3467	B5ME49	.	A	3467	ENSP00000381008:G3467A	ENSP00000381008:G3467A	G	-	2	0	MUC16	8938046	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.070000	0.11523	-0.493000	0.06678	0.313000	0.20887	GGA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		5	24	0	0	0	0.001984	0	5	24		
NCAN	1463	broad.mit.edu	37	19	19339025	19339025	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:19339025G>A	ENST00000252575.6	+	8	2695	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	NCAN_ENST00000538881.1_Missense_Mutation_p.D317N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	866					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGTGGCCCTGGATACAAGCAT	0.597																																						uc002nlz.2		NaN																	0				ovary(4)	4						c.(2596-2598)GAT>AAT		chondroitin sulfate proteoglycan 3 precursor							85.0	87.0	86.0					19																	19339025		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339025G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2596G>A	19.37:g.19339025G>A	ENSP00000252575:p.Asp866Asn					NCAN_uc010ecc.1_Missense_Mutation_p.D430N	p.D866N	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2695	+			866					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2596G>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398592	0.25205	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86097	-1.89;-2.07	3.47	0.155	0.14906	.	0.585040	0.14246	N	0.331725	T	0.67683	0.2919	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.51872	-0.8650	10	0.23891	T	0.37	.	5.639	0.17552	0.3659:0.0:0.6341:0.0	.	880;866	Q4LE67;O14594	.;NCAN_HUMAN	N	880;866;317	ENSP00000252575:D866N;ENSP00000442202:D317N	ENSP00000252575:D866N	D	+	1	0	NCAN	19200025	0.006000	0.16342	0.000000	0.03702	0.221000	0.24807	1.181000	0.32017	0.137000	0.18759	0.491000	0.48974	GAT		0.597	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		NM_004386		22	96	0	0	0	0.007291	0	22	96		
ZNF257	113835	broad.mit.edu	37	19	22271465	22271465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:22271465C>T	ENST00000594947.1	+	4	1057	c.913C>T	c.(913-915)Caa>Taa	p.Q305*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCCTTACTCAACATAAGAG	0.393																																						uc010ecx.2		NaN																	0					0						c.(913-915)CAA>TAA		zinc finger protein 257							47.0	51.0	50.0					19																	22271465		2124	4250	6374	SO:0001587	stop_gained	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271465C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.913C>T	19.37:g.22271465C>T	ENSP00000470209:p.Gln305*					ZNF257_uc010ecy.2_Nonsense_Mutation_p.Q273*	p.Q305*	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1082	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	305			C2H2-type 5; degenerate.		B3KPS4|E9PG34|Q8NE34	Nonsense_Mutation	SNP	ENST00000594947.1	37	c.913C>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560406	0.45590	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.71	0.11234	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7605	0.23538	0.0:0.3569:0.6431:0.0	.	.	.	.	X	305;277	.	ENSP00000380312:Q277X	Q	+	1	0	ZNF257	22063305	.	.	0.082000	0.20525	0.179000	0.23085	.	.	0.518000	0.28383	0.313000	0.20887	CAA		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1				9	29	0	0	0	0.006214	0	9	29		
PSG3	5671	broad.mit.edu	37	19	43236936	43236936	+	Splice_Site	SNP	G	G	A	rs545782001		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:43236936G>A	ENST00000327495.5	-	3	893	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Splice_Site_p.P237S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	237					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.542													.|||	1	0.000199681	0.0	0.0	5008	,	,		19944	0.0		0.0	False		,,,				2504	0.001					uc002oue.2		NaN																	0				ovary(1)|skin(1)	2						c.(709-711)CCG>TCG		pregnancy specific beta-1-glycoprotein 3							200.0	202.0	202.0					19																	43236936		2202	4300	6502	SO:0001630	splice_region_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43236936G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.709+1C>T	19.37:g.43236936G>A						PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.P259S	p.P237S	NM_021016	NP_066296	Q16557	PSG3_HUMAN			3	841	-		Prostate(69;0.00682)	237					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.709C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	3.690	-0.063677	0.07273	.	.	ENSG00000221826	ENST00000327495	T	0.23950	1.88	1.59	0.445	0.16597	.	.	.	.	.	T	0.13756	0.0333	N	0.25957	0.775	0.20074	N	0.999936	B;B	0.18461	0.028;0.005	B;B	0.14023	0.01;0.007	T	0.31613	-0.9937	8	.	.	.	.	3.364	0.07197	0.7398:0.0:0.2602:0.0	.	215;237	Q08266;Q16557	.;PSG3_HUMAN	S	237	ENSP00000332215:P237S	.	P	-	1	0	PSG3	47928776	0.014000	0.17966	0.091000	0.20842	0.002000	0.02628	-0.909000	0.04058	-0.070000	0.12908	-0.515000	0.04445	CCG		0.542	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2		NM_021016	Missense_Mutation	141	277	0	0	0	0.01441	0	141	277		
CCDC61	729440	broad.mit.edu	37	19	46509948	46509948	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:46509948C>G	ENST00000595358.1	+	4	412	c.363C>G	c.(361-363)atC>atG	p.I121M	CCDC61_ENST00000594087.1_Missense_Mutation_p.I121M|CCDC61_ENST00000263284.2_Missense_Mutation_p.I178M|CCDC61_ENST00000536603.1_Missense_Mutation_p.I121M	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	121						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GCTACCTGATCCTCATCTACT	0.652																																						uc002pdw.2		NaN																	0				ovary(1)	1						c.(532-534)ATC>ATG		coiled-coil domain containing 61							44.0	48.0	47.0					19																	46509948		1889	4110	5999	SO:0001583	missense	729440							g.chr19:46509948C>G		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.363C>G	19.37:g.46509948C>G	ENSP00000471454:p.Ile121Met						p.I178M	NM_001080402	NP_001073871				OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	5	534	+		all_neural(266;0.113)|Ovarian(192;0.127)						C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	c.534C>G	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023617	0.54683	.	.	ENSG00000104983	ENST00000263284;ENST00000536603	T;T	0.53857	0.6;0.6	3.96	-2.77	0.05877	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.86740	2.835	0.48571	D	0.999671	D	0.76494	0.999	D	0.83275	0.996	T	0.63834	-0.6547	10	0.87932	D	0	-18.0345	3.3993	0.07317	0.2815:0.3671:0.0:0.3514	.	121	Q9Y6R9	CCD61_HUMAN	M	178;121	ENSP00000263284:I178M;ENSP00000444279:I121M	ENSP00000263284:I178M	I	+	3	3	CCDC61	51201788	0.974000	0.33945	0.989000	0.46669	0.982000	0.71751	0.123000	0.15708	-0.432000	0.07297	-0.232000	0.12228	ATC		0.652	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1		NM_001080402		58	110	0	0	0	0.01441	0	58	110		
GRIN2D	2906	broad.mit.edu	37	19	48945175	48945175	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:48945175G>A	ENST00000263269.3	+	11	2490	c.2402G>A	c.(2401-2403)cGg>cAg	p.R801Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	801					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTGGAAGCGGCCCATCGAC	0.672																																						uc002pjc.3		NaN																	0				ovary(3)|breast(3)	6						c.(2401-2403)CGG>CAG		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						39.0	35.0	36.0					19																	48945175		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945175G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2402G>A	19.37:g.48945175G>A	ENSP00000263269:p.Arg801Gln					GRIN2D_uc010elx.2_Missense_Mutation_p.R36Q	p.R801Q	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2490	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	801			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.2402G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989574	0.93106	.	.	ENSG00000105464	ENST00000263269	T	0.26957	1.7	4.62	4.62	0.57501	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	N	0.19112	0.55	0.43913	D	0.996554	D	0.89917	1.0	D	0.66602	0.945	T	0.09684	-1.0663	10	0.40728	T	0.16	.	16.8162	0.85734	0.0:0.0:1.0:0.0	.	801	O15399	NMDE4_HUMAN	Q	801	ENSP00000263269:R801Q	ENSP00000263269:R801Q	R	+	2	0	GRIN2D	53636987	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.647000	0.98478	2.587000	0.87381	0.456000	0.33151	CGG		0.672	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1				3	37	0	0	0	0.009096	0	3	37		
C2orf44	80304	broad.mit.edu	37	2	24260579	24260579	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:24260579G>C	ENST00000295148.4	-	2	1843	c.1786C>G	c.(1786-1788)Caa>Gaa	p.Q596E	C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	596								p.Q596E(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGATCTTGAGAGAGTGGA	0.403			T	ALK	NSCLC																																	uc002rep.2		NaN		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1786-1788)CAA>GAA		hypothetical protein LOC80304 isoform 1							124.0	125.0	125.0					2																	24260579		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24260579G>C	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1786C>G	2.37:g.24260579G>C	ENSP00000295148:p.Gln596Glu					C2orf44_uc010eya.2_Missense_Mutation_p.Q596E	p.Q596E	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1917	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		596					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1786C>G	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	6.436	0.448640	0.12223	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.41400	1.0;1.0	5.65	0.424	0.16468	.	0.865887	0.10529	N	0.664003	T	0.32133	0.0819	L	0.35414	1.06	0.19945	N	0.999944	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.006	T	0.23940	-1.0174	10	0.36615	T	0.2	0.0262	12.1215	0.53893	0.0:0.4375:0.3372:0.2254	.	596;596	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	E	596	ENSP00000295148:Q596E;ENSP00000385816:Q596E	ENSP00000295148:Q596E	Q	-	1	0	C2orf44	24114083	0.000000	0.05858	0.013000	0.15412	0.256000	0.26092	0.328000	0.19681	-0.121000	0.11787	-0.127000	0.14921	CAA		0.403	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1		NM_025203		34	91	0	0	0	0.010771	0	34	91		
SPTBN1	6711	broad.mit.edu	37	2	54855387	54855387	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:54855387G>A	ENST00000356805.4	+	13	2079	c.1798G>A	c.(1798-1800)Ggt>Agt	p.G600S	SPTBN1_ENST00000333896.5_Splice_Site_p.G587S	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	600					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGACGGGGAAGGTAAGGATGG	0.507																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1798-1800)GGT>AGT		spectrin, beta, non-erythrocytic 1 isoform 1							77.0	67.0	70.0					2																	54855387		2203	4300	6503	SO:0001630	splice_region_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54855387G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1798+1G>A	2.37:g.54855387G>A						SPTBN1_uc002rxv.1_Missense_Mutation_p.G600S|SPTBN1_uc002rxx.2_Missense_Mutation_p.G587S	p.G600S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2047	+			600			Spectrin 3.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1798G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057653	0.76074	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.50548	0.74;0.74;0.74	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.50333	1.59	0.80722	D	1	B;P	0.37233	0.292;0.588	B;P	0.46339	0.382;0.513	T	0.50136	-0.8863	10	0.40728	T	0.16	.	19.8918	0.96932	0.0:0.0:1.0:0.0	.	587;600	Q01082-3;Q01082	.;SPTB2_HUMAN	S	600;600;587	ENSP00000349259:G600S;ENSP00000374630:G600S;ENSP00000334156:G587S	ENSP00000334156:G587S	G	+	1	0	SPTBN1	54708891	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.755000	0.98912	2.711000	0.92665	0.637000	0.83480	GGT		0.507	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			Missense_Mutation	3	47	0	0	0	0.009096	0	3	47		
CCDC88A	55704	broad.mit.edu	37	2	55522809	55522809	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:55522809C>G	ENST00000436346.1	-	31	6316	c.5475G>C	c.(5473-5475)ttG>ttC	p.L1825F	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1797F|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1750F|CCDC88A_ENST00000422883.2_Missense_Mutation_p.L326F|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1824F	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1825					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGTCCTTGGTCAAAAAATCAT	0.458																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(5470-5472)TTG>TTC		coiled-coil domain containing 88A isoform 1							201.0	179.0	187.0					2																	55522809		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55522809C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5475G>C	2.37:g.55522809C>G	ENSP00000410608:p.Leu1825Phe					CCDC88A_uc010yoz.1_Missense_Mutation_p.L1797F|CCDC88A_uc010ypa.1_Missense_Mutation_p.L1750F|CCDC88A_uc002ryt.2_Missense_Mutation_p.L115F|CCDC88A_uc010fbw.2_Missense_Mutation_p.L326F|CCDC88A_uc002ryu.2_Missense_Mutation_p.L1079F|CCDC88A_uc002rys.2_Missense_Mutation_p.L782F|CCDC88A_uc002ryw.2_Missense_Mutation_p.L1108F|CCDC88A_uc010fby.1_Missense_Mutation_p.L676F	p.L1824F	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			31	6314	-			1825					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5472G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.36|11.36	1.615683|1.615683	0.28801|0.28801	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000444458	T;T;T;T;T;T|.	0.66638|.	1.64;1.44;1.86;-0.22;1.22;0.48|.	5.37|5.37	3.53|3.53	0.40419|0.40419	.|.	0.000000|.	0.39146|.	U|.	0.001445|.	T|.	0.37919|.	0.1021|.	N|N	0.24115|0.24115	0.695|0.695	0.40852|0.40852	D|D	0.983767|0.983767	B;D;D;D;D;D;D|.	0.89917|.	0.001;1.0;0.999;0.999;0.97;1.0;1.0|.	B;D;D;D;P;D;D|.	0.87578|.	0.001;0.997;0.995;0.994;0.654;0.998;0.997|.	T|.	0.13150|.	-1.0520|.	10|.	0.34782|.	T|.	0.22|.	-5.1178|-5.1178	5.0919|5.0919	0.14713|0.14713	0.1484:0.6306:0.0:0.221|0.1484:0.6306:0.0:0.221	.|.	1750;1797;1742;326;1825;1824;1796|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;.;.;GRDN_HUMAN;.;.|.	F|S	1824;1797;1825;326;842;1750;1000|328	ENSP00000338728:L1824F;ENSP00000263630:L1797F;ENSP00000410608:L1825F;ENSP00000390012:L842F;ENSP00000404431:L1750F;ENSP00000405080:L1000F|.	ENSP00000263630:L1797F|.	L|X	-|-	3|2	2|2	CCDC88A|CCDC88A	55376313|55376313	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	0.893000|0.893000	0.28336|0.28336	0.706000|0.706000	0.31912|0.31912	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.458	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		43	147	0	0	0	0.01441	0	43	147		
FBXO48	554251	broad.mit.edu	37	2	68692016	68692016	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:68692016G>C	ENST00000377957.3	-	3	669	c.262C>G	c.(262-264)Cga>Gga	p.R88G	APLF_ENST00000303795.4_5'Flank	NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	88										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATTTCTCTTCGGCACACAGCT	0.428																																						uc002seo.2		NaN																	0					0						c.(262-264)CGA>GGA		F-box protein 48							199.0	184.0	189.0					2																	68692016		2203	4300	6503	SO:0001583	missense	554251							g.chr2:68692016G>C	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.262C>G	2.37:g.68692016G>C	ENSP00000367193:p.Arg88Gly					APLF_uc010fdf.2_5'Flank|APLF_uc002sep.2_5'Flank	p.R88G	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN			3	670	-			88						Missense_Mutation	SNP	ENST00000377957.3	37	c.262C>G	CCDS33213.1	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180504	0.21787	.	.	ENSG00000204923	ENST00000377957	T	0.47177	0.85	5.73	2.94	0.34122	F-box domain, Skp2-like (1);	0.415194	0.26844	N	0.022209	T	0.27798	0.0684	N	0.14661	0.345	0.29681	N	0.841708	B	0.21520	0.057	B	0.19666	0.026	T	0.16928	-1.0386	10	0.20519	T	0.43	-1.2199	10.4588	0.44567	0.0:0.1305:0.5978:0.2716	.	88	Q5FWF7	FBX48_HUMAN	G	88	ENSP00000367193:R88G	ENSP00000367193:R88G	R	-	1	2	FBXO48	68545520	1.000000	0.71417	0.946000	0.38457	0.325000	0.28411	5.109000	0.64615	0.340000	0.23745	-0.181000	0.13052	CGA		0.428	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2		NM_001024680		23	140	0	0	0	0.00632	0	23	140		
GPR45	11250	broad.mit.edu	37	2	105858447	105858447	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:105858447G>A	ENST00000258456.1	+	1	248	c.132G>A	c.(130-132)atG>atA	p.M44I		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCTGCTGATGACCGTGGTGG	0.617																																						uc002tco.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(130-132)ATG>ATA		G protein-coupled receptor 45							139.0	125.0	130.0					2																	105858447		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858447G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.132G>A	2.37:g.105858447G>A	ENSP00000258456:p.Met44Ile						p.M44I	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	248	+			44			Helical; Name=1; (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.132G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	7.612	0.674932	0.14841	.	.	ENSG00000135973	ENST00000258456	T	0.31769	1.48	5.6	5.6	0.85130	.	0.044847	0.85682	D	0.000000	T	0.21841	0.0526	N	0.20986	0.625	0.58432	D	0.999997	B	0.23540	0.087	B	0.24974	0.057	T	0.06679	-1.0813	10	0.02654	T	1	-37.9423	19.2289	0.93829	0.0:0.0:1.0:0.0	.	44	Q9Y5Y3	GPR45_HUMAN	I	44	ENSP00000258456:M44I	ENSP00000258456:M44I	M	+	3	0	GPR45	105224879	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	4.635000	0.61332	2.641000	0.89580	0.462000	0.41574	ATG		0.617	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1		NM_007227		74	193	0	0	0	0.01441	0	74	193		
FMNL2	114793	broad.mit.edu	37	2	153483060	153483060	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:153483060G>C	ENST00000475377.2	+	4	309	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	FMNL2_ENST00000288670.9_Missense_Mutation_p.E662Q|FMNL2_ENST00000497192.1_3'UTR			Q96PY5	FMNL2_HUMAN	formin-like 2	662	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GGATGAATTTGAGGAAATATT	0.358																																						uc002tye.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1984-1986)GAG>CAG		formin-like 2							48.0	43.0	45.0					2																	153483060		1811	4083	5894	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153483060G>C	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.109G>C	2.37:g.153483060G>C	ENSP00000418959:p.Glu37Gln					FMNL2_uc010fob.2_Missense_Mutation_p.E118Q|FMNL2_uc002tyf.2_Missense_Mutation_p.E111Q	p.E662Q	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			17	2351	+			662			FH2.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37	c.1984G>C		.	.	.	.	.	.	.	.	.	.	G	24.5	4.536968	0.85812	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.24151	1.87;1.87	6.17	6.17	0.99709	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.91612	3.225	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.81914	0.995;0.985;0.99	T	0.68496	-0.5393	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	662;143;662	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	Q	662;143;37	ENSP00000288670:E662Q;ENSP00000418959:E37Q	ENSP00000288670:E662Q	E	+	1	0	FMNL2	153191306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.816000	0.99350	2.941000	0.99782	0.655000	0.94253	GAG		0.358	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3		NM_052905		5	9	0	0	0	0.014758	0	5	9		
AGPS	8540	broad.mit.edu	37	2	178402841	178402841	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:178402841C>G	ENST00000264167.4	+	20	2041	c.1895C>G	c.(1894-1896)tCt>tGt	p.S632C	AGPS_ENST00000409888.1_Missense_Mutation_p.S163C	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	632					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GAAAGTATCTCTGATGTCGGC	0.378																																						uc002ull.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1894-1896)TCT>TGT		alkyldihydroxyacetone phosphate synthase							133.0	131.0	132.0					2																	178402841		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178402841C>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1895C>G	2.37:g.178402841C>G	ENSP00000264167:p.Ser632Cys					AGPS_uc010zfb.1_Missense_Mutation_p.S542C	p.S632C	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		20	1942	+			632					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1895C>G	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729954	0.69074	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	D;D	0.89746	-2.56;-2.56	5.95	5.95	0.96441	Vanillyl-alcohol oxidase, C-terminal subdomain 2 (1);FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95392	0.8504	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95063	0.8197	10	0.66056	D	0.02	.	20.3645	0.98876	0.0:1.0:0.0:0.0	.	632	O00116	ADAS_HUMAN	C	632;163	ENSP00000264167:S632C;ENSP00000386688:S163C	ENSP00000264167:S632C	S	+	2	0	AGPS	178111087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.821000	0.97095	0.561000	0.74099	TCT		0.378	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2				25	64	0	0	0	0.00632	0	25	64		
TTN	7273	broad.mit.edu	37	2	179436844	179436844	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:179436844G>T	ENST00000591111.1	-	276	69316	c.69092C>A	c.(69091-69093)aCt>aAt	p.T23031N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15732N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24672N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15607N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15799N|TTN_ENST00000342992.6_Missense_Mutation_p.T22104N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23031	Fibronectin type-III 67. {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)			AGTGGCTTCAGTGACCTTGAC	0.478																																						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.(66310-66312)ACT>AAT		titin isoform N2-A							72.0	67.0	69.0					2																	179436844		2002	4190	6192	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436844G>T	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.69092C>A	2.37:g.179436844G>T	ENSP00000465570:p.Thr23031Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15799N|TTN_uc010zfi.1_Missense_Mutation_p.T15732N|TTN_uc010zfj.1_Missense_Mutation_p.T15607N	p.T22104N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66535	-			23031					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.66311C>A		.	.	.	.	.	.	.	.	.	.	G	11.53	1.665600	0.29604	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	6.07	5.18	0.71444	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52354	0.1729	L	0.39514	1.22	0.48975	D	0.999738	B;B;B;B	0.12630	0.003;0.003;0.003;0.006	B;B;B;B	0.14023	0.01;0.01;0.01;0.007	T	0.50541	-0.8816	9	0.87932	D	0	.	16.9885	0.86347	0.0:0.0:0.8717:0.1283	.	15607;15732;15799;23031	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22104;15607;15799;15732;15605	ENSP00000343764:T22104N;ENSP00000434586:T15607N;ENSP00000340554:T15799N;ENSP00000352154:T15732N	ENSP00000340554:T15799N	T	-	2	0	TTN	179145090	1.000000	0.71417	0.927000	0.36925	0.997000	0.91878	6.399000	0.73248	1.556000	0.49512	0.650000	0.86243	ACT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		13	22	1	0	1.02788e-11	0.00499	1.08598e-11	13	22		
WDR75	84128	broad.mit.edu	37	2	190334854	190334854	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:190334854C>G	ENST00000314761.4	+	17	1932	c.1872C>G	c.(1870-1872)atC>atG	p.I624M		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	624						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAAGGGTATCTCCAGAGAGA	0.403																																						uc002uql.1		NaN																	0				ovary(2)	2						c.(1870-1872)ATC>ATG		WD repeat domain 75							173.0	176.0	175.0					2																	190334854		2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190334854C>G	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1872C>G	2.37:g.190334854C>G	ENSP00000314193:p.Ile624Met					WDR75_uc002uqm.1_Missense_Mutation_p.I560M|WDR75_uc002uqn.1_Missense_Mutation_p.I402M|WDR75_uc002uqo.1_Missense_Mutation_p.I402M	p.I624M	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		17	1932	+			624					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.1872C>G	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471257	0.43942	.	.	ENSG00000115368	ENST00000314761	T	0.61980	0.06	5.97	5.97	0.96955	.	0.263636	0.44097	D	0.000500	T	0.46852	0.1414	L	0.29908	0.895	0.32690	N	0.514256	B;B	0.17852	0.024;0.024	B;B	0.15484	0.013;0.013	T	0.51787	-0.8661	10	0.33940	T	0.23	-8.4359	7.856	0.29483	0.0:0.8123:0.0:0.1877	.	624;624	A8K330;Q8IWA0	.;WDR75_HUMAN	M	624	ENSP00000314193:I624M	ENSP00000314193:I624M	I	+	3	3	WDR75	190043099	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.067000	0.41461	2.833000	0.97629	0.585000	0.79938	ATC		0.403	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1		NM_032168		47	87	0	0	0	0.01441	0	47	87		
CCDC150	284992	broad.mit.edu	37	2	197590756	197590756	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:197590756C>A	ENST00000389175.4	+	22	2624	c.2489C>A	c.(2488-2490)gCt>gAt	p.A830D	CCDC150_ENST00000272831.7_Missense_Mutation_p.A477D|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Missense_Mutation_p.A317D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	830										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CGCATAGAAGCTCTAAGAAAG	0.423																																						uc002utp.1		NaN																	0					0						c.(2488-2490)GCT>GAT		coiled-coil domain containing 150							65.0	64.0	64.0					2																	197590756		1889	4129	6018	SO:0001583	missense	284992							g.chr2:197590756C>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2489C>A	2.37:g.197590756C>A	ENSP00000373827:p.Ala830Asp					CCDC150_uc010zgs.1_Missense_Mutation_p.A477D|CCDC150_uc010zgt.1_Missense_Mutation_p.A247D|CCDC150_uc002utq.1_Missense_Mutation_p.A145D|CCDC150_uc002utr.1_Missense_Mutation_p.A145D	p.A830D	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			22	2624	+			830			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.2489C>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443067	0.25987	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.52754	0.65	5.42	3.59	0.41128	.	0.528567	0.18525	N	0.138642	T	0.39733	0.1089	L	0.45581	1.43	0.80722	D	1	P;P;B;P;P	0.49783	0.873;0.557;0.275;0.928;0.873	P;B;B;B;B	0.44990	0.466;0.17;0.224;0.408;0.382	T	0.12451	-1.0547	10	0.14656	T	0.56	-0.0357	8.332	0.32191	0.0:0.7593:0.1572:0.0835	.	247;477;317;145;830	B4DWS7;B4DZ03;Q8NCX0-2;Q8NCX0-4;Q8NCX0	.;.;.;.;CC150_HUMAN	D	477;830;317	ENSP00000373827:A830D	ENSP00000272831:A477D	A	+	2	0	CCDC150	197299001	0.926000	0.31397	0.975000	0.42487	0.036000	0.12997	1.145000	0.31577	0.813000	0.34350	0.655000	0.94253	GCT		0.423	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2		NM_001080539		7	16	1	0	1.06961e-07	0.00308	1.11552e-07	7	16		
PARD3B	117583	broad.mit.edu	37	2	205983760	205983760	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:205983760A>C	ENST00000406610.2	+	7	1003	c.796A>C	c.(796-798)Acc>Ccc	p.T266P	PARD3B_ENST00000358768.2_Missense_Mutation_p.T266P|PARD3B_ENST00000351153.1_Missense_Mutation_p.T266P|PARD3B_ENST00000462231.1_Missense_Mutation_p.T266P|PARD3B_ENST00000349953.3_Missense_Mutation_p.T266P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	266	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGTAGACAAAACCTTTGCTCA	0.363																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(796-798)ACC>CCC		par-3 partitioning defective 3 homolog B isoform							90.0	88.0	89.0					2																	205983760		1852	4093	5945	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205983760A>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.796A>C	2.37:g.205983760A>C	ENSP00000385848:p.Thr266Pro					PARD3B_uc010fub.1_Missense_Mutation_p.T266P|PARD3B_uc002vao.1_Missense_Mutation_p.T266P|PARD3B_uc002vap.1_Missense_Mutation_p.T266P|PARD3B_uc002vaq.1_Missense_Mutation_p.T266P	p.T266P	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	1003	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	266			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.796A>C		.	.	.	.	.	.	.	.	.	.	A	15.81	2.943662	0.53079	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.65	5.65	0.86999	PDZ/DHR/GLGF (3);	0.159984	0.56097	N	0.000034	T	0.34135	0.0887	L	0.39397	1.21	0.47819	D	0.999523	D;D;P;D;D	0.89917	1.0;1.0;0.589;1.0;1.0	D;D;B;D;D	0.87578	0.998;0.994;0.223;0.997;0.996	T	0.04005	-1.0985	10	0.27082	T	0.32	.	11.026	0.47744	0.8612:0.0:0.0:0.1388	.	266;266;266;266;266	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	P	266	ENSP00000385848:T266P;ENSP00000351618:T266P;ENSP00000317261:T266P;ENSP00000340280:T266P	ENSP00000340280:T266P	T	+	1	0	PARD3B	205692005	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.611000	0.46334	2.149000	0.67028	0.533000	0.62120	ACC		0.363	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		17	65	0	0	0	0.010504	0	17	65		
IDH1	3417	broad.mit.edu	37	2	209104705	209104705	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:209104705C>T	ENST00000415913.1	-	8	1254	c.873G>A	c.(871-873)atG>atA	p.M291I	IDH1_ENST00000446179.1_Missense_Mutation_p.M291I|IDH1_ENST00000345146.2_Missense_Mutation_p.M291I	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	291					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCACGCTGGTCATCATGCCGA	0.527			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2		NaN		Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		0				central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(871-873)ATG>ATA		isocitrate dehydrogenase 1 (NADP+), soluble							126.0	97.0	107.0					2																	209104705		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209104705C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.873G>A	2.37:g.209104705C>T	ENSP00000390265:p.Met291Ile					IDH1_uc002vct.2_Missense_Mutation_p.M291I|IDH1_uc002vcu.2_Missense_Mutation_p.M291I	p.M291I	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	8	1119	-			291					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.873G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596858	0.96602	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.68479	-0.33;-0.33;-0.33	6.08	6.08	0.98989	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	M	0.90483	3.12	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	D	0.87534	0.2454	10	0.87932	D	0	-13.0176	20.6721	0.99693	0.0:1.0:0.0:0.0	.	291	O75874	IDHC_HUMAN	I	291	ENSP00000260985:M291I;ENSP00000410513:M291I;ENSP00000390265:M291I	ENSP00000260985:M291I	M	-	3	0	IDH1	208812950	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	ATG		0.527	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1				15	60	0	0	0	0.007413	0	15	60		
SPEG	10290	broad.mit.edu	37	2	220309874	220309874	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:220309874C>G	ENST00000312358.7	+	3	938	c.806C>G	c.(805-807)tCt>tGt	p.S269C	SPEG_ENST00000396698.1_Missense_Mutation_p.S165C|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	269					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGGCGCTCTCTATCCACGTG	0.612																																						uc010fwg.2		NaN																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(805-807)TCT>TGT		SPEG complex locus							11.0	13.0	12.0					2																	220309874		2187	4269	6456	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309874C>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.806C>G	2.37:g.220309874C>G	ENSP00000311684:p.Ser269Cys					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR	p.S269C	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	806	+		Renal(207;0.0183)	269					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.806C>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075709	0.55646	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.68331	-0.32;0.0	4.73	4.73	0.59995	.	0.000000	0.33438	U	0.004920	T	0.69287	0.3094	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.76008	-0.3116	10	0.66056	D	0.02	.	17.715	0.88333	0.0:1.0:0.0:0.0	.	269	Q15772	SPEG_HUMAN	C	269;269;165	ENSP00000311684:S269C;ENSP00000379926:S165C	ENSP00000265327:S269C	S	+	2	0	SPEG	220018118	1.000000	0.71417	0.999000	0.59377	0.777000	0.43975	7.309000	0.78937	2.155000	0.67459	0.442000	0.29010	TCT		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		3	8	0	0	0	0.004672	0	3	8		
MFF	56947	broad.mit.edu	37	2	228194464	228194464	+	Start_Codon_SNP	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:228194464G>A	ENST00000353339.3	+	3	444	c.3G>A	c.(1-3)atG>atA	p.M1I	MFF_ENST00000349901.7_Intron|MFF_ENST00000409616.1_5'UTR|MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000392059.1_Start_Codon_SNP_p.M1I|MFF_ENST00000337110.7_Intron|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	1					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GTATTTAAATGAGTAAAGGAA	0.343																																						uc002vos.2		NaN																	0				large_intestine(1)	1						c.(1-3)ATG>ATA		mitochondrial fission factor							115.0	110.0	112.0					2																	228194464		2203	4300	6503	SO:0001582	initiator_codon_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228194464G>A	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.3G>A	2.37:g.228194464G>A	ENSP00000302037:p.Met1Ile					MFF_uc002vot.2_Intron|MFF_uc002vou.2_Missense_Mutation_p.M1I|MFF_uc002vov.2_Intron|MFF_uc002vow.2_Intron|MFF_uc002vox.2_Intron|MFF_uc002voy.2_Missense_Mutation_p.M1I|MFF_uc002voz.2_Intron	p.M1I	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN			3	421	+			1			Cytoplasmic (Potential).		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.3G>A	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233079	0.58777	.	.	ENSG00000168958	ENST00000353339;ENST00000436237;ENST00000443428;ENST00000392059	T;T;T;T	0.57907	1.51;0.37;1.47;1.51	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.52693	0.1750	.	.	.	0.39630	D	0.970161	P	0.35872	0.525	B	0.42214	0.38	T	0.47446	-0.9117	8	.	.	.	-1.39	17.3406	0.87294	0.0:0.0:1.0:0.0	.	1	Q9GZY8	MFF_HUMAN	I	1	ENSP00000302037:M1I;ENSP00000411386:M1I;ENSP00000391829:M1I;ENSP00000375912:M1I	.	M	+	3	0	MFF	227902708	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.295000	0.65692	2.834000	0.97654	0.650000	0.86243	ATG		0.343	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2		NM_020194	Missense_Mutation	17	53	0	0	0	0.012319	0	17	53		
THAP4	51078	broad.mit.edu	37	2	242572898	242572898	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:242572898C>T	ENST00000407315.1	-	2	1105	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	225							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGCCCCAGATCCTGGGGGCGT	0.557																																						uc002wbt.2		NaN																	0					0						c.(673-675)GGA>GAA		THAP domain containing 4 isoform 1							78.0	89.0	85.0					2																	242572898		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242572898C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.674G>A	2.37:g.242572898C>T	ENSP00000385006:p.Gly225Glu						p.G225E	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	897	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	225					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.674G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129671	0.56721	.	.	ENSG00000176946	ENST00000407315	D	0.96265	-3.96	5.09	5.09	0.68999	.	0.506503	0.17726	N	0.164079	D	0.95053	0.8398	L	0.29908	0.895	0.47441	D	0.999423	D	0.59767	0.986	P	0.56343	0.796	D	0.94141	0.7397	10	0.72032	D	0.01	-35.2872	9.3358	0.38049	0.1504:0.6834:0.1662:0.0	.	225	Q8WY91	THAP4_HUMAN	E	225	ENSP00000385006:G225E	ENSP00000385006:G225E	G	-	2	0	THAP4	242221571	0.175000	0.23083	0.201000	0.23476	0.972000	0.66771	1.163000	0.31798	2.553000	0.86117	0.655000	0.94253	GGA		0.557	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3		NM_015963		28	63	0	0	0	0.008361	0	28	63		
C20orf96	140680	broad.mit.edu	37	20	259903	259903	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr20:259903G>A	ENST00000360321.2	-	5	513	c.375C>T	c.(373-375)ctC>ctT	p.L125L	C20orf96_ENST00000382369.5_Silent_p.L90L|C20orf96_ENST00000400269.3_Silent_p.L67L	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	125										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTCCCGGTTGAGCTTGCTGA	0.672																																						uc002wde.1		NaN																	0					0						c.(373-375)CTC>CTT		hypothetical protein LOC140680							112.0	80.0	91.0					20																	259903		2203	4300	6503	SO:0001819	synonymous_variant	140680							g.chr20:259903G>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.375C>T	20.37:g.259903G>A						C20orf96_uc002wdc.2_Silent_p.L72L|C20orf96_uc002wdd.2_Silent_p.L90L|C20orf96_uc010zpi.1_Silent_p.L72L|C20orf96_uc010zpj.1_Silent_p.L90L|C20orf96_uc010zpk.1_Silent_p.L63L	p.L125L	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		5	514	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	125			Potential.		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	c.375C>T	CCDS12994.1																																																																																				0.672	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2		NM_153269		23	187	0	0	0	0.027356	0	23	187		
SLC32A1	140679	broad.mit.edu	37	20	37357147	37357147	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr20:37357147C>T	ENST00000217420.1	+	2	1706	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	481					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCGCCTGCTCTGGCGCAAGC	0.647																																						uc002xjc.2		NaN																	0					0						c.(1441-1443)CTC>CTT		solute carrier family 32, member 1	Glycine(DB00145)						28.0	30.0	29.0					20																	37357147		2201	4300	6501	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357147C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1443C>T	20.37:g.37357147C>T							p.L481L	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1706	+		Myeloproliferative disorder(115;0.00878)	481			Helical; (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.1443C>T	CCDS13307.1																																																																																				0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		5	70	0	0	0	0.021553	0	5	70		
CDH26	60437	broad.mit.edu	37	20	58545159	58545159	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr20:58545159G>A	ENST00000244047.5	+	3	460	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	CDH26_ENST00000348616.4_Missense_Mutation_p.R50Q			Q8IXH8	CAD26_HUMAN	cadherin 26	50	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CAGCCTCTACGGCGATCCAAG	0.498																																						uc002ybe.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(148-150)CGG>CAG		cadherin-like 26 isoform a							122.0	112.0	115.0					20																	58545159		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58545159G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.149G>A	20.37:g.58545159G>A	ENSP00000244047:p.Arg50Gln					CDH26_uc010zzy.1_RNA	p.R50Q	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		3	449	+	all_lung(29;0.00963)		50			Extracellular (Potential).|Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.149G>A		.	.	.	.	.	.	.	.	.	.	G	12.07	1.828338	0.32329	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.59502	0.26;0.37	4.81	-0.853	0.10709	.	0.992865	0.08190	N	0.984012	T	0.42449	0.1203	L	0.35249	1.045	0.09310	N	1	P	0.47191	0.891	B	0.39503	0.301	T	0.32587	-0.9901	10	0.30854	T	0.27	.	9.4239	0.38567	0.4781:0.0:0.5219:0.0	.	50	Q8IXH8-4	.	Q	50	ENSP00000244047:R50Q;ENSP00000339390:R50Q	ENSP00000244047:R50Q	R	+	2	0	CDH26	57978554	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.043000	0.12043	0.027000	0.15297	-0.142000	0.14014	CGG		0.498	CDH26-201	KNOWN	basic	protein_coding	protein_coding			NM_177980		42	98	0	0	0	0.01441	0	42	98		
SCAF4	57466	broad.mit.edu	37	21	33043774	33043774	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr21:33043774C>T	ENST00000286835.7	-	20	3764	c.3382G>A	c.(3382-3384)Gag>Aag	p.E1128K	SCAF4_ENST00000399804.1_Missense_Mutation_p.E1106K|SCAF4_ENST00000434667.3_Missense_Mutation_p.E1113K	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1128						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGGTAGCCTCAGCAGGTAAC	0.498																																						uc002ypd.2		NaN																	0					0						c.(3382-3384)GAG>AAG		splicing factor, arginine/serine-rich 15 isoform							86.0	77.0	80.0					21																	33043774		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33043774C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3382G>A	21.37:g.33043774C>T	ENSP00000286835:p.Glu1128Lys					SFRS15_uc002ype.2_Missense_Mutation_p.E1106K|SFRS15_uc010glu.2_Missense_Mutation_p.E1113K	p.E1128K	NM_020706	NP_065757	O95104	SFR15_HUMAN			20	3808	-			1128					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.3382G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519173	0.64634	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.52526	0.7;0.7;0.66	5.93	5.0	0.66597	.	0.091573	0.47852	D	0.000215	T	0.49983	0.1589	N	0.24115	0.695	0.40718	D	0.982632	D;B;B	0.69078	0.997;0.161;0.1	D;B;B	0.64506	0.926;0.053;0.024	T	0.52801	-0.8527	10	0.87932	D	0	-13.6599	10.0278	0.42081	0.0:0.7903:0.1388:0.0709	.	1113;1106;1128	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	K	1113;1128;1106	ENSP00000402377:E1113K;ENSP00000286835:E1128K;ENSP00000382703:E1106K	ENSP00000286835:E1128K	E	-	1	0	SCAF4	31965645	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.342000	0.43992	2.826000	0.97356	0.655000	0.94253	GAG		0.498	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		12	36	0	0	0	0.028581	0	12	36		
DSCAM	1826	broad.mit.edu	37	21	41450881	41450881	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr21:41450881C>T	ENST00000400454.1	-	26	4921	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1482	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCAAACAGCTCCTGCTCCTTT	0.582																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4444-4446)GAG>AAG		Down syndrome cell adhesion molecule isoform							41.0	44.0	43.0					21																	41450881		2142	4259	6401	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41450881C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4444G>A	21.37:g.41450881C>T	ENSP00000383303:p.Glu1482Lys					DSCAM_uc002yyr.1_RNA	p.E1482K	NM_001389	NP_001380	O60469	DSCAM_HUMAN			26	4896	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1482			Extracellular (Potential).|Fibronectin type-III 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4444G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253311	0.39797	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.53423	0.62;0.62	4.47	4.47	0.54385	Fibronectin, type III (3);	0.159251	0.56097	D	0.000039	T	0.46737	0.1408	L	0.51422	1.61	0.44149	D	0.996949	P	0.50819	0.939	P	0.48488	0.579	T	0.27400	-1.0075	10	0.15066	T	0.55	.	13.4597	0.61221	0.0:0.843:0.157:0.0	.	1482	O60469	DSCAM_HUMAN	K	1482;1234	ENSP00000383303:E1482K;ENSP00000385342:E1234K	ENSP00000383303:E1482K	E	-	1	0	DSCAM	40372751	0.997000	0.39634	0.715000	0.30552	0.990000	0.78478	3.768000	0.55295	2.478000	0.83669	0.563000	0.77884	GAG		0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		19	47	0	0	0	0.007291	0	19	47		
NIPSNAP1	8508	broad.mit.edu	37	22	29957498	29957498	+	Silent	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:29957498G>C	ENST00000216121.7	-	6	830	c.576C>G	c.(574-576)ctC>ctG	p.L192L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	192					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GAGGCACCTTGAGCTTGTATG	0.577																																						uc003afx.3		NaN																	1	Unknown(1)	p.?(1)	lung(1)	skin(1)	1						c.(574-576)CTC>CTG		nipsnap homolog 1							90.0	95.0	93.0					22																	29957498		2203	4300	6503	SO:0001819	synonymous_variant	8508							g.chr22:29957498G>C	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.576C>G	22.37:g.29957498G>C						NIPSNAP1_uc011akp.1_Silent_p.L172L	p.L192L	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN			6	649	-			192					B2RAY3|O43800	Silent	SNP	ENST00000216121.7	37	c.576C>G	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862984	0.17178	.	.	ENSG00000184117	ENST00000415100	.	.	.	4.69	2.35	0.29111	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53947	-0.8366	4	.	.	.	-0.4987	9.1747	0.37105	0.0:0.3108:0.4706:0.2186	.	.	.	.	E	209	.	.	Q	-	1	0	NIPSNAP1	28287498	0.993000	0.37304	1.000000	0.80357	0.944000	0.59088	0.186000	0.16978	1.275000	0.44379	0.462000	0.41574	CAA		0.577	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1				44	83	0	0	0	0.01441	0	44	83		
GATSL3	652968	broad.mit.edu	37	22	30682066	30682066	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:30682066C>T	ENST00000407689.3	-	7	894	c.765G>A	c.(763-765)ctG>ctA	p.L255L	GATSL3_ENST00000404953.3_Silent_p.L217L|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	255										breast(1)|endometrium(1)|lung(1)	3						AGGAGCTGGTCAGCAGGAGGT	0.672																																						uc003ahd.2		NaN																	0				breast(1)	1						c.(763-765)CTG>CTA		GATS protein-like 3							26.0	35.0	32.0					22																	30682066		1968	4150	6118	SO:0001819	synonymous_variant	652968							g.chr22:30682066C>T		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.765G>A	22.37:g.30682066C>T						GATSL3_uc003ahc.2_Silent_p.L217L|GATSL3_uc003ahe.2_Silent_p.L218L|GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.L390L	p.L255L	NM_001037666	NP_001032755	Q8WTX7	GATL3_HUMAN			7	895	-			255					O76052|Q96ND9|Q9UIE8	Silent	SNP	ENST00000407689.3	37	c.765G>A	CCDS43001.1																																																																																				0.672	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2		NM_001037666		4	21	0	0	0	0.021553	0	4	21		
DEPDC5	9681	broad.mit.edu	37	22	32242914	32242914	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:32242914C>T	ENST00000382112.3	+	30	3159	c.3089C>T	c.(3088-3090)tCa>tTa	p.S1030L	DEPDC5_ENST00000382105.2_Missense_Mutation_p.S961L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1039L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1030L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1039L|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1030L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S1039L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S961L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1039					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGGAACCTCAGCTCTCTCT	0.552																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(3088-3090)TCA>TTA		DEP domain containing 5 isoform 1							76.0	79.0	78.0					22																	32242914		2017	4179	6196	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32242914C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3089C>T	22.37:g.32242914C>T	ENSP00000371546:p.Ser1030Leu					DEPDC5_uc011als.1_Missense_Mutation_p.S961L|DEPDC5_uc011alu.1_Missense_Mutation_p.S1039L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1030L|DEPDC5_uc003alu.2_Missense_Mutation_p.S479L|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.S360L|DEPDC5_uc003alw.2_Missense_Mutation_p.S328L|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S34L	p.S1030L	NM_014662	NP_055477	O75140	DEPD5_HUMAN			31	3231	+			1030					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3089C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374990	0.61735	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.44083	1.29;1.73;1.73;1.5;0.93;1.57;1.5;1.73	5.31	4.28	0.50868	.	0.068833	0.64402	D	0.000010	T	0.51517	0.1679	L	0.29908	0.895	0.80722	D	1	D;D;D;P;D;D;D	0.65815	0.995;0.967;0.986;0.889;0.976;0.967;0.958	D;P;P;P;P;P;P	0.81914	0.995;0.658;0.835;0.705;0.743;0.658;0.558	T	0.51340	-0.8718	10	0.42905	T	0.14	.	14.7376	0.69427	0.1459:0.8541:0.0:0.0	.	360;1039;961;425;1039;1030;1030	B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;.;DEPD5_HUMAN	L	961;1039;1030;961;1039;961;1030;1039;1030	ENSP00000440210:S961L;ENSP00000266091:S1039L;ENSP00000383108:S1030L;ENSP00000383105:S1039L;ENSP00000371539:S961L;ENSP00000371546:S1030L;ENSP00000371545:S1039L;ENSP00000383107:S1030L	ENSP00000266091:S1039L	S	+	2	0	DEPDC5	30572914	1.000000	0.71417	0.980000	0.43619	0.290000	0.27261	7.084000	0.76866	1.370000	0.46153	-0.187000	0.12897	TCA		0.552	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		14	68	0	0	0	0.028581	0	14	68		
ANKRD54	129138	broad.mit.edu	37	22	38234561	38234561	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:38234561C>T	ENST00000215941.4	-	3	613	c.421G>A	c.(421-423)Gac>Aac	p.D141N	ANKRD54_ENST00000609454.1_Intron|ANKRD54_ENST00000411961.2_Missense_Mutation_p.D125N|ANKRD54_ENST00000406423.1_Missense_Mutation_p.D21N	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	141	LYN-binding. {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					CGGCCCTTGTCATCAGCTGCA	0.577																																						uc003auc.2		NaN																	0					0						c.(421-423)GAC>AAC		ankyrin repeat domain 54							90.0	58.0	69.0					22																	38234561		2203	4300	6503	SO:0001583	missense	129138							g.chr22:38234561C>T	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.421G>A	22.37:g.38234561C>T	ENSP00000215941:p.Asp141Asn					ANKRD54_uc003aud.2_Missense_Mutation_p.D18N	p.D141N	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN			3	479	-	Melanoma(58;0.045)		141					Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	ENST00000215941.4	37	c.421G>A	CCDS13959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.867032|4.867032	0.91511|0.91511	.|.	.|.	ENSG00000100124|ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961;ENST00000434930|ENST00000458278;ENST00000424350	T;T;T;T|T	0.69926|0.72051	-0.09;-0.21;-0.09;-0.44|-0.62	5.17|5.17	4.16|4.16	0.48862|0.48862	Ankyrin repeat-containing domain (4);|.	0.146062|.	0.64402|.	D|.	0.000009|.	T|T	0.59542|0.59542	0.2201|0.2201	N|N	0.16037|0.16037	0.36|0.36	0.45580|0.45580	D|D	0.99852|0.99852	D;D|.	0.65815|.	0.986;0.995|.	P;D|.	0.64237|.	0.887;0.923|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|7	0.06494|0.23302	T|T	0.89|0.38	-4.5112|-4.5112	13.9422|13.9422	0.64062|0.64062	0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727	.|.	21;141|.	B5MCX7;Q6NXT1|.	.;ANR54_HUMAN|.	N|I	141;21;125;141|63;9	ENSP00000215941:D141N;ENSP00000384392:D21N;ENSP00000405782:D125N;ENSP00000387507:D141N|ENSP00000393035:M9I	ENSP00000215941:D141N|ENSP00000385180:M9I	D|M	-|-	1|3	0|0	ANKRD54|ANKRD54	36564507|36564507	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.974000|0.974000	0.67602|0.67602	4.969000|4.969000	0.63735|0.63735	1.568000|1.568000	0.49683|0.49683	0.555000|0.555000	0.69702|0.69702	GAC|ATG		0.577	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1		NM_138797		9	23	0	0	0	0.010729	0	9	23		
PIM3	415116	broad.mit.edu	37	22	50356727	50356727	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:50356727C>G	ENST00000360612.4	+	6	1368	c.933C>G	c.(931-933)ctC>ctG	p.L311L		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	311					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TGTGCACCCTCGACCCTGATG	0.677																																						uc003bjb.2		NaN																	0					0						c.(931-933)CTC>CTG		serine/threonine protein kinase pim-3							17.0	19.0	18.0					22																	50356727		2198	4295	6493	SO:0001819	synonymous_variant	415116				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:50356727C>G	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.933C>G	22.37:g.50356727C>G						PIM3_uc011arj.1_Silent_p.L74L	p.L311L	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	6	1386	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	311					A5D8X8|A8K7J0|B1B0P0|Q68BM2	Silent	SNP	ENST00000360612.4	37	c.933C>G	CCDS33678.1																																																																																				0.677	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1		NM_001001852		7	22	0	0	0	0.00308	0	7	22		
PLXNB2	23654	broad.mit.edu	37	22	50714172	50714172	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:50714172C>G	ENST00000449103.1	-	37	5618	c.5478G>C	c.(5476-5478)caG>caC	p.Q1826H	AL022328.1_ENST00000595015.1_Missense_Mutation_p.L24V|PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1826H			O15031	PLXB2_HUMAN	plexin B2	1826					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCGGCAATCTGCTGCAGGC	0.597											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(5476-5478)CAG>CAC		plexin B2 precursor							41.0	47.0	45.0					22																	50714172		2128	4262	6390	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50714172C>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5478G>C	22.37:g.50714172C>G	ENSP00000409171:p.Gln1826His		OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	PLXNB2_uc003bkt.1_Missense_Mutation_p.Q618H|PLXNB2_uc003bku.1_Missense_Mutation_p.Q811H	p.Q1826H	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	37	5584	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1826			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.5478G>C	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456903	0.63401	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.04502	3.61;3.61	4.11	3.09	0.35607	.	0.000000	0.64402	D	0.000004	T	0.15869	0.0382	M	0.75884	2.315	0.53688	D	0.999971	D	0.89917	1.0	D	0.72982	0.979	T	0.00581	-1.1660	10	0.45353	T	0.12	.	6.9518	0.24550	0.0:0.699:0.0:0.301	.	1826	O15031	PLXB2_HUMAN	H	1826	ENSP00000409171:Q1826H;ENSP00000352288:Q1826H	ENSP00000352288:Q1826H	Q	-	3	2	PLXNB2	49056299	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.959000	0.40412	0.947000	0.37659	0.462000	0.41574	CAG		0.597	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		10	55	0	0	0	0.013537	0	10	55		
ATP2B2	491	broad.mit.edu	37	3	10401790	10401790	+	Silent	SNP	G	G	C	rs367837268		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:10401790G>C	ENST00000352432.4	-	12	1746	c.1677C>G	c.(1675-1677)ggC>ggG	p.G559G	ATP2B2_ENST00000383800.4_Silent_p.G514G|ATP2B2_ENST00000360273.2_Silent_p.G559G|ATP2B2_ENST00000343816.4_Silent_p.G545G|ATP2B2_ENST00000397077.1_Silent_p.G514G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	559					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAGGCAGGGCGCCCTCCTTCT	0.687																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1675-1677)GGC>GGG		plasma membrane calcium ATPase 2 isoform 1							36.0	35.0	35.0					3																	10401790		2203	4299	6502	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10401790G>C	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1677C>G	3.37:g.10401790G>C						ATP2B2_uc003bvv.2_Silent_p.G514G|ATP2B2_uc003bvw.2_Silent_p.G514G|ATP2B2_uc010hdo.2_Silent_p.G264G	p.G559G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			13	2116	-			559			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1677C>G	CCDS33701.1																																																																																				0.687	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		30	53	0	0	0	0.00874	0	30	53		
ULK4	54986	broad.mit.edu	37	3	41961238	41961238	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:41961238A>G	ENST00000301831.4	-	6	1076	c.614T>C	c.(613-615)tTg>tCg	p.L205S	ULK4_ENST00000420927.1_Missense_Mutation_p.L205S	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAGACAGCCCAAAGACCAGAG	0.413																																						uc003ckv.3		NaN																	0					0						c.(613-615)TTG>TCG		unc-51-like kinase 4							162.0	158.0	159.0					3																	41961238		1837	4102	5939	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41961238A>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.614T>C	3.37:g.41961238A>G	ENSP00000301831:p.Leu205Ser					ULK4_uc003ckw.2_Missense_Mutation_p.L205S|ULK4_uc003ckx.1_Missense_Mutation_p.L205S	p.L205S	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	6	815	-			205			Protein kinase.		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.614T>C	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295491	0.81025	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.79845	-1.31;1.43	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089746	0.53938	D	0.000047	D	0.91287	0.7253	M	0.91196	3.185	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74674	0.979;0.984	D	0.93163	0.6559	10	0.87932	D	0	.	14.5612	0.68136	1.0:0.0:0.0:0.0	.	205;205	B4E2M4;Q96C45	.;ULK4_HUMAN	S	205	ENSP00000301831:L205S;ENSP00000412187:L205S	ENSP00000301831:L205S	L	-	2	0	ULK4	41936242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.542000	0.73869	2.141000	0.66446	0.533000	0.62120	TTG		0.413	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1		XM_929989		26	83	0	0	0	0.019004	0	26	83		
LTF	4057	broad.mit.edu	37	3	46497843	46497843	+	Missense_Mutation	SNP	C	C	T	rs573693534		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:46497843C>T	ENST00000231751.4	-	3	548	c.253G>A	c.(253-255)Gag>Aag	p.E85K	LTF_ENST00000417439.1_Missense_Mutation_p.E85K|LTF_ENST00000426532.2_Missense_Mutation_p.E41K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	85	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.E85K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		AGGCCTGCCTCGTATATGAAA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13159	0.0		0.0	False		,,,				2504	0.0					uc003cpq.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(253-255)GAG>AAG		lactotransferrin precursor	Pefloxacin(DB00487)						83.0	78.0	80.0					3																	46497843		2203	4300	6503	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46497843C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.253G>A	3.37:g.46497843C>T	ENSP00000231751:p.Glu85Lys					LTF_uc003fzr.2_Missense_Mutation_p.E41K|LTF_uc010hjh.2_Missense_Mutation_p.E85K|LTF_uc003cpr.2_Missense_Mutation_p.E72K	p.E85K	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	3	291	-			85			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.253G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030284	0.54790	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	4.49	3.6	0.41247	.	0.223553	0.47093	D	0.000242	T	0.45054	0.1323	L	0.42245	1.32	0.09310	N	1	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.69824	0.966;0.854;0.966	T	0.16364	-1.0405	10	0.46703	T	0.11	-22.4934	6.5555	0.22458	0.0:0.6885:0.2091:0.1024	.	85;72;85	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	85;41;85;72;85;96;41	ENSP00000231751:E85K;ENSP00000405719:E41K;ENSP00000405546:E85K;ENSP00000397427:E72K;ENSP00000395234:E96K;ENSP00000400254:E41K	ENSP00000231751:E85K	E	-	1	0	LTF	46472847	0.144000	0.22641	0.017000	0.16124	0.004000	0.04260	1.340000	0.33896	1.168000	0.42723	0.655000	0.94253	GAG		0.577	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2		NM_002343		25	84	0	0	0	0.019004	0	25	84		
PLXNB1	5364	broad.mit.edu	37	3	48465275	48465275	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:48465275G>A	ENST00000358536.4	-	3	1015	c.746C>T	c.(745-747)tCt>tTt	p.S249F	PLXNB1_ENST00000358459.4_Missense_Mutation_p.S249F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S249F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S249F|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	249	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACACACTCGAGATACATAGGC	0.612																																						uc003csw.2		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(745-747)TCT>TTT		plexin B1 precursor							65.0	62.0	63.0					3																	48465275		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48465275G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.746C>T	3.37:g.48465275G>A	ENSP00000351338:p.Ser249Phe					PLXNB1_uc003csu.2_Missense_Mutation_p.S249F|PLXNB1_uc003csx.2_Missense_Mutation_p.S249F|PLXNB1_uc010hjx.1_RNA	p.S249F	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	1016	-			249			Extracellular (Potential).|Sema.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.746C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083652	0.36758	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.41	3.53	0.40419	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.163679	0.42053	D	0.000775	T	0.32704	0.0838	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.951;0.999	T	0.07195	-1.0785	10	0.87932	D	0	.	11.2484	0.49010	0.0896:0.0:0.9104:0.0	.	249;249	O43157;O43157-2	PLXB1_HUMAN;.	F	249	ENSP00000296440:S249F;ENSP00000351242:S249F;ENSP00000351338:S249F;ENSP00000414199:S249F	ENSP00000296440:S249F	S	-	2	0	PLXNB1	48440279	1.000000	0.71417	0.080000	0.20451	0.007000	0.05969	9.827000	0.99397	0.848000	0.35191	-0.218000	0.12543	TCT		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1		NM_002673		36	74	0	0	0	0.027894	0	36	74		
SEMA3F	6405	broad.mit.edu	37	3	50220147	50220147	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:50220147C>T	ENST00000002829.3	+	9	1318	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SEMA3F_ENST00000434342.1_Silent_p.F247F|SEMA3F_ENST00000413852.1_Silent_p.F179F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	278	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTTACTTCTTCTTCCGTGAGC	0.627																																						uc003cyj.2		NaN																	0				lung(1)|skin(1)	2						c.(832-834)TTC>TTT		semaphorin 3F precursor							66.0	75.0	72.0					3																	50220147		2203	4300	6503	SO:0001819	synonymous_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50220147C>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.834C>T	3.37:g.50220147C>T						SEMA3F_uc003cyk.2_Silent_p.F247F	p.F278F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	9	1032	+			278			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	ENST00000002829.3	37	c.834C>T	CCDS2811.1																																																																																				0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1		NM_004186		47	75	0	0	0	0.01441	0	47	75		
ADAMTS9	56999	broad.mit.edu	37	3	64536627	64536627	+	Missense_Mutation	SNP	G	G	A	rs200122001		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:64536627G>A	ENST00000498707.1	-	31	5152	c.4810C>T	c.(4810-4812)Cgt>Tgt	p.R1604C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1576C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1604	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1604C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCTTTCACGGTCCACCGGC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		10533	0.001		0.0	False		,,,				2504	0.0					uc003dmg.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(4810-4812)CGT>TGT		ADAM metallopeptidase with thrombospondin type 1							199.0	158.0	172.0					3																	64536627		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64536627G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4810C>T	3.37:g.64536627G>A	ENSP00000418735:p.Arg1604Cys					ADAMTS9_uc011bfo.1_Missense_Mutation_p.R1576C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1433C|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R515C	p.R1604C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	31	4842	-		Lung NSC(201;0.00682)	1604			TSP type-1 13.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4810C>T	CCDS2903.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.463	1.093615	0.20471	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.53423	0.62;0.62	5.69	4.8	0.61643	.	0.838294	0.10738	N	0.639824	T	0.60856	0.2301	M	0.84948	2.725	0.09310	N	1	D;D;P	0.54047	0.96;0.964;0.919	P;P;P	0.49140	0.601;0.481;0.601	T	0.55296	-0.8163	10	0.56958	D	0.05	.	9.9135	0.41419	0.0:0.3498:0.4535:0.1967	.	1576;1604;1604	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	C	1576;1604	ENSP00000295903:R1576C;ENSP00000418735:R1604C	ENSP00000295903:R1576C	R	-	1	0	ADAMTS9	64511667	0.121000	0.22262	0.012000	0.15200	0.002000	0.02628	1.209000	0.32357	1.351000	0.45789	0.585000	0.79938	CGT		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				111	113	0	0	0	0.01441	0	111	113		
ADAMTS9	56999	broad.mit.edu	37	3	64599095	64599095	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:64599095C>T	ENST00000498707.1	-	22	3622	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1066K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1094	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCTTGGTCTCAGGGTCACAC	0.488																																						uc003dmg.2		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(3280-3282)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							109.0	105.0	106.0					3																	64599095		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64599095C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3280G>A	3.37:g.64599095C>T	ENSP00000418735:p.Glu1094Lys					ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1066K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E923K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E5K	p.E1094K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	22	3312	-		Lung NSC(201;0.00682)	1094			TSP type-1 5.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.3280G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135492	0.56828	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.53423	0.62;0.62	6.06	5.18	0.71444	.	0.186809	0.37623	N	0.002008	T	0.32436	0.0829	L	0.31578	0.945	0.80722	D	1	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.12837	0.008;0.006;0.008	T	0.11275	-1.0594	10	0.06891	T	0.86	.	12.3259	0.55011	0.0:0.8147:0.1202:0.0651	.	1066;1094;1094	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	K	1066;1094	ENSP00000295903:E1066K;ENSP00000418735:E1094K	ENSP00000295903:E1066K	E	-	1	0	ADAMTS9	64574135	0.978000	0.34361	0.978000	0.43139	0.918000	0.54935	2.148000	0.42235	1.529000	0.49120	0.655000	0.94253	GAG		0.488	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				17	102	0	0	0	0.010504	0	17	102		
FAM162A	26355	broad.mit.edu	37	3	122123148	122123148	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:122123148G>A	ENST00000477892.1	+	3	285	c.201G>A	c.(199-201)caG>caA	p.Q67Q	FAM162A_ENST00000469967.1_Silent_p.Q67Q|FAM162A_ENST00000232125.5_Silent_p.Q57Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	67					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						CGGATTGGCAGAAAAAGATCC	0.373																																						uc003eez.2		NaN																	0				ovary(1)	1						c.(199-201)CAG>CAA		growth and transformation-dependent protein							89.0	86.0	87.0					3																	122123148		1874	4102	5976	SO:0001819	synonymous_variant	26355					integral to membrane		g.chr3:122123148G>A	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.201G>A	3.37:g.122123148G>A						FAM162A_uc011bjq.1_Silent_p.Q67Q	p.Q67Q	NM_014367	NP_055182	Q96A26	F162A_HUMAN			3	291	+			67					Q9NRN6|Q9UJX8	Silent	SNP	ENST00000477892.1	37	c.201G>A	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	2.421	-0.333056	0.05278	.	.	ENSG00000114023	ENST00000440333	.	.	.	5.65	4.7	0.59300	.	.	.	.	.	T	0.60261	0.2255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56974	-0.7890	5	0.41790	T	0.15	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	.	.	.	K	68	.	ENSP00000405770:E68K	E	+	1	0	FAM162A	123605838	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	1.012000	0.29924	2.941000	0.99782	0.655000	0.94253	GAA		0.373	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1		NM_014367		9	20	0	0	0	0.008291	0	9	20		
UROC1	131669	broad.mit.edu	37	3	126202223	126202223	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:126202223C>G	ENST00000290868.2	-	19	1932	c.1879G>C	c.(1879-1881)Gtc>Ctc	p.V627L	UROC1_ENST00000383579.3_Missense_Mutation_p.V687L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	627					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCATTGGAGACATCCCAGCTG	0.617																																						uc003eiz.1		NaN																	0				ovary(1)	1						c.(1879-1881)GTC>CTC		urocanase domain containing 1 isoform 1							66.0	59.0	61.0					3																	126202223		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126202223C>G	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1879G>C	3.37:g.126202223C>G	ENSP00000290868:p.Val627Leu					UROC1_uc010hsi.1_Missense_Mutation_p.V687L	p.V627L	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	19	1911	-			627					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1879G>C	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.056773	0.76074	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46451	0.87;0.87	5.4	5.4	0.78164	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	H	0.95574	3.69	0.80722	D	1	D;D	0.64830	0.969;0.994	D;D	0.66979	0.948;0.939	T	0.82483	-0.0435	10	0.72032	D	0.01	-5.1405	16.6956	0.85334	0.0:1.0:0.0:0.0	.	687;627	E9PE13;Q96N76	.;HUTU_HUMAN	L	627;687	ENSP00000290868:V627L;ENSP00000373073:V687L	ENSP00000290868:V627L	V	-	1	0	UROC1	127684913	1.000000	0.71417	0.995000	0.50966	0.455000	0.32408	7.040000	0.76551	2.545000	0.85829	0.479000	0.44913	GTC		0.617	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2		NM_144639		6	43	0	0	0	0.021553	0	6	43		
ISY1	57461	broad.mit.edu	37	3	128853792	128853792	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:128853792G>A	ENST00000393295.3	-	8	741	c.424C>T	c.(424-426)Cct>Tct	p.P142S	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.P142S|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Missense_Mutation_p.P164S|ISY1_ENST00000393292.3_Missense_Mutation_p.P142S	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	142					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CTGGGAGGAGGAAGAGCTATA	0.453																																						uc003elo.1		NaN																	0				lung(1)	1						c.(424-426)CCT>TCT		ISY1 splicing factor homolog							92.0	90.0	91.0					3																	128853792		1985	4187	6172	SO:0001583	missense	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128853792G>A		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.424C>T	3.37:g.128853792G>A	ENSP00000376973:p.Pro142Ser					ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.P142S|ISY1_uc010hta.1_Missense_Mutation_p.P164S	p.P142S	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			8	635	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.424C>T	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238404	0.58886	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.29142	1.58	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	L	0.54908	1.71	0.80722	D	1	B;P;B	0.38473	0.203;0.633;0.203	B;P;B	0.47299	0.157;0.543;0.157	T	0.04767	-1.0928	10	0.15952	T	0.53	.	14.3873	0.66953	0.0:0.0:1.0:0.0	.	164;142;142	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	S	142;142;164;80;142	ENSP00000273541:P164S	ENSP00000273541:P164S	P	-	1	0	ISY1	130336482	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.161000	0.89655	2.524000	0.85096	0.467000	0.42956	CCT		0.453	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1		NM_020701		14	30	0	0	0	0.028581	0	14	30		
COL6A6	131873	broad.mit.edu	37	3	130282320	130282320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:130282320G>A	ENST00000358511.6	+	2	504	c.473G>A	c.(472-474)gGa>gAa	p.G158E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G158E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	158	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAAGACGGAGTGAAAATC	0.498																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(472-474)GGA>GAA		collagen type VI alpha 6 precursor							58.0	58.0	58.0					3																	130282320		1926	4124	6050	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282320G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.473G>A	3.37:g.130282320G>A	ENSP00000351310:p.Gly158Glu						p.G158E	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	504	+			158			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.473G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347309	0.61183	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83506	-1.73;-1.73	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.100000	0.44902	D	0.000410	D	0.92371	0.7579	M	0.86420	2.815	0.45914	D	0.998757	D	0.89917	1.0	D	0.78314	0.991	D	0.93350	0.6717	10	0.72032	D	0.01	.	18.7126	0.91662	0.0:0.0:1.0:0.0	.	158	A6NMZ7	CO6A6_HUMAN	E	158	ENSP00000351310:G158E;ENSP00000399236:G158E	ENSP00000351310:G158E	G	+	2	0	COL6A6	131765010	1.000000	0.71417	0.979000	0.43373	0.150000	0.21749	6.401000	0.73256	2.585000	0.87301	0.561000	0.74099	GGA		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		4	30	0	0	0	0.009096	0	4	30		
PPP2R3A	5523	broad.mit.edu	37	3	135720804	135720804	+	Missense_Mutation	SNP	C	C	T	rs372883345		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:135720804C>T	ENST00000264977.3	+	2	1081	c.464C>T	c.(463-465)tCa>tTa	p.S155L	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	155					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGGAGGTCAGTTGATTTG	0.398																																						uc003eqv.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(463-465)TCA>TTA		protein phosphatase 2, regulatory subunit B'',		C	LEU/SER,	0,4406		0,0,2203	75.0	78.0	77.0		464,	5.6	1.0	3		77	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	PPP2R3A	NM_002718.4,NM_001190447.1	145,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	155/1151,	135720804	1,13005	2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135720804C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.464C>T	3.37:g.135720804C>T	ENSP00000264977:p.Ser155Leu					PPP2R3A_uc011blz.1_Intron	p.S155L	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1029	+			155					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.464C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064475	0.76187	0.0	1.16E-4	ENSG00000073711	ENST00000264977	T	0.15139	2.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.19647	-1.0299	10	0.87932	D	0	.	18.497	0.90869	0.0:1.0:0.0:0.0	.	155	Q06190	P2R3A_HUMAN	L	155	ENSP00000264977:S155L	ENSP00000264977:S155L	S	+	2	0	PPP2R3A	137203494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.594000	0.87642	0.655000	0.94253	TCA		0.398	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718		6	34	0	0	0	0.001984	0	6	34		
CPA3	1359	broad.mit.edu	37	3	148596524	148596524	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:148596524T>C	ENST00000296046.3	+	5	515	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	155					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAATCCACTATATGTTCTGAA	0.313																																						uc003ewm.2		NaN																	0				breast(1)|skin(1)	2						c.(463-465)TAT>CAT		carboxypeptidase A3 precursor							56.0	64.0	62.0					3																	148596524		2201	4294	6495	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148596524T>C		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.463T>C	3.37:g.148596524T>C	ENSP00000296046:p.Tyr155His						p.Y155H	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	515	+			155					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.463T>C	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604778	0.46423	.	.	ENSG00000163751	ENST00000296046	T	0.10477	2.87	5.19	5.19	0.71726	Peptidase M14, carboxypeptidase A (3);	0.183781	0.48286	D	0.000186	T	0.22589	0.0545	L	0.55213	1.73	0.35691	D	0.814867	P	0.41265	0.744	P	0.52267	0.694	T	0.09185	-1.0686	10	0.59425	D	0.04	.	14.4571	0.67423	0.0:0.0:0.0:1.0	.	155	P15088	CBPA3_HUMAN	H	155	ENSP00000296046:Y155H	ENSP00000296046:Y155H	Y	+	1	0	CPA3	150079214	1.000000	0.71417	0.895000	0.35142	0.146000	0.21551	4.217000	0.58547	2.304000	0.77564	0.528000	0.53228	TAT		0.313	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1		NM_001870		16	17	0	0	0	0.007413	0	16	17		
IGSF10	285313	broad.mit.edu	37	3	151161338	151161338	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:151161338C>G	ENST00000282466.3	-	5	5396	c.5397G>C	c.(5395-5397)gtG>gtC	p.V1799V	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1799	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGTCAACCGTCACCACAGCCT	0.512																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(5395-5397)GTG>GTC		immunoglobulin superfamily, member 10 precursor							101.0	89.0	93.0					3																	151161338		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161338C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5397G>C	3.37:g.151161338C>G						IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	p.V1799V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5397	-			1799			Ig-like C2-type 4.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.5397G>C	CCDS3160.1																																																																																				0.512	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		22	45	0	0	0	0.021523	0	22	45		
IGSF10	285313	broad.mit.edu	37	3	151166475	151166475	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:151166475C>G	ENST00000282466.3	-	4	1293	c.1294G>C	c.(1294-1296)Gac>Cac	p.D432H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	432					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAATTTGGTCTTGCATTAAC	0.428																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(1294-1296)GAC>CAC		immunoglobulin superfamily, member 10 precursor							128.0	115.0	119.0					3																	151166475		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166475C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1294G>C	3.37:g.151166475C>G	ENSP00000282466:p.Asp432His						p.D432H	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1294	-			432					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1294G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916190	0.52546	.	.	ENSG00000152580	ENST00000282466	T	0.69561	-0.41	5.08	3.28	0.37604	.	0.268593	0.25860	N	0.027823	T	0.63943	0.2554	M	0.62723	1.935	0.24824	N	0.992561	P	0.49961	0.93	P	0.44518	0.452	T	0.58160	-0.7685	10	0.54805	T	0.06	.	9.8097	0.40815	0.0:0.7543:0.0:0.2457	.	432	Q6WRI0	IGS10_HUMAN	H	432	ENSP00000282466:D432H	ENSP00000282466:D432H	D	-	1	0	IGSF10	152649165	0.220000	0.23631	0.698000	0.30274	0.877000	0.50540	2.535000	0.45685	0.543000	0.28864	0.555000	0.69702	GAC		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		13	22	0	0	0	0.024245	0	13	22		
PIK3CA	5290	broad.mit.edu	37	3	178928225	178928225	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:178928225C>G	ENST00000263967.3	+	9	1568	c.1411C>G	c.(1411-1413)Cca>Gca	p.P471A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	471	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.P471A(1)		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)	TTAGGAAACTCCATGCTTAGA	0.368		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1	Substitution - Missense(1)	p.P471A(1)	breast(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.(1411-1413)CCA>GCA		phosphoinositide-3-kinase, catalytic, alpha							98.0	92.0	94.0					3																	178928225		1844	4087	5931	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.chr3:178928225C>G		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.1411C>G	3.37:g.178928225C>G	ENSP00000263967:p.Pro471Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P471A	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)		9	1568	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		471			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1411C>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989105	0.35131	.	.	ENSG00000121879	ENST00000263967	T	0.75821	-0.97	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.107853	0.64402	D	0.000005	T	0.76335	0.3973	L	0.37466	1.105	0.80722	D	1	D	0.61080	0.989	P	0.60117	0.869	T	0.68827	-0.5306	10	0.02654	T	1	-14.0418	19.6973	0.96031	0.0:1.0:0.0:0.0	.	471	P42336	PK3CA_HUMAN	A	471	ENSP00000263967:P471A	ENSP00000263967:P471A	P	+	1	0	PIK3CA	180410919	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.466000	0.80914	2.674000	0.91012	0.655000	0.94253	CCA		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				26	21	0	0	0	0.024334	0	26	21		
TPRG1	285386	broad.mit.edu	37	3	188933083	188933083	+	Silent	SNP	G	G	A	rs141310543		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:188933083G>A	ENST00000345063.3	+	3	380	c.213G>A	c.(211-213)ccG>ccA	p.P71P	TPRG1_ENST00000433971.1_Silent_p.P71P	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	71						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CCACACAGCCGGGGGCCATTG	0.488																																						uc003frv.1		NaN																	0					0						c.(211-213)CCG>CCA		tumor protein p63 regulated 1		G		1,4405	2.1+/-5.4	0,1,2202	75.0	72.0	73.0		213	-5.0	1.0	3	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	TPRG1	NM_198485.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		71/276	188933083	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285386							g.chr3:188933083G>A	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.213G>A	3.37:g.188933083G>A						TPRG1_uc003frw.1_Silent_p.P71P	p.P71P	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	8	1440	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	71						Silent	SNP	ENST00000345063.3	37	c.213G>A	CCDS3292.1																																																																																				0.488	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1		NM_198485		25	23	0	0	0	0.017118	0	25	23		
CLDN1	9076	broad.mit.edu	37	3	190026071	190026071	+	Missense_Mutation	SNP	C	C	G	rs147881276	byFrequency	TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:190026071C>G	ENST00000295522.3	-	4	899	c.631G>C	c.(631-633)Gtg>Ctg	p.V211L		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	211	Interactions with TJP1, TJP2, TJP3 and INADL. {ECO:0000250}.				calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CTGTGTCACACGTAGTCTTTC	0.448																																						uc003fsh.2		NaN																	0				lung(1)	1						c.(631-633)GTG>CTG		claudin 1							214.0	194.0	201.0					3																	190026071		2203	4300	6503	SO:0001583	missense	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190026071C>G	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.631G>C	3.37:g.190026071C>G	ENSP00000295522:p.Val211Leu						p.V211L	NM_021101	NP_066924	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	4	851	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		211			Cytoplasmic (Potential).|Interactions with TJP1, TJP2, TJP3 and INADL (By similarity).			Missense_Mutation	SNP	ENST00000295522.3	37	c.631G>C	CCDS3295.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090471	0.76756	.	.	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.91407	-2.84	6.17	6.17	0.99709	.	0.055775	0.64402	D	0.000001	D	0.96137	0.8741	M	0.90198	3.095	0.58432	D	0.999997	D	0.63880	0.993	D	0.72075	0.976	D	0.96266	0.9195	10	0.87932	D	0	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	211	O95832	CLD1_HUMAN	L	211;166	ENSP00000295522:V211L	ENSP00000295522:V211L	V	-	1	0	CLDN1	191508765	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.704000	0.68347	2.941000	0.99782	0.655000	0.94253	GTG		0.448	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2		NM_021101		22	150	0	0	0	0.010818	0	22	150		
SLC34A2	10568	broad.mit.edu	37	4	25664188	25664188	+	Silent	SNP	A	A	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:25664188A>G	ENST00000382051.3	+	2	116	c.66A>G	c.(64-66)gcA>gcG	p.A22A	SLC34A2_ENST00000504570.1_Silent_p.A22A|SLC34A2_ENST00000503434.1_Silent_p.A22A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	22					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AAGGGGCCGCAGGTCAGCAGC	0.547			T	ROS1	NSCLC																																	uc003grr.2		NaN		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(64-66)GCA>GCG		solute carrier family 34 (sodium phosphate),							68.0	69.0	68.0					4																	25664188		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25664188A>G	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.66A>G	4.37:g.25664188A>G						SLC34A2_uc003grs.2_Silent_p.A22A|SLC34A2_uc010iev.2_Silent_p.A22A	p.A22A	NM_006424	NP_006415	O95436	NPT2B_HUMAN			2	147	+		Breast(46;0.0503)	22			Cytoplasmic (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.66A>G	CCDS3435.1																																																																																				0.547	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1		NM_006424		3	102	0	0	0	0.014758	0	3	102		
N4BP2	55728	broad.mit.edu	37	4	40146258	40146258	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:40146258C>G	ENST00000261435.6	+	16	5397	c.4981C>G	c.(4981-4983)Ctt>Gtt	p.L1661V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1661					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAGGGTACTCTTCATGAGCA	0.428																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(4981-4983)CTT>GTT		Nedd4 binding protein 2							116.0	110.0	112.0					4																	40146258		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40146258C>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4981C>G	4.37:g.40146258C>G	ENSP00000261435:p.Leu1661Val					N4BP2_uc010ifq.2_Missense_Mutation_p.L1581V|N4BP2_uc010ifr.2_Missense_Mutation_p.L1564V	p.L1661V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			16	5319	+			1661					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4981C>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.33|14.33	2.503628|2.503628	0.44558|0.44558	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.20738|.	2.05|.	5.15|5.15	3.37|3.37	0.38596|0.38596	Domain of unknown function DUF1771 (1);|.	0.409422|.	0.23939|.	N|.	0.043061|.	T|T	0.37210|0.37210	0.0995|0.0995	N|N	0.26130|0.26130	0.795|0.795	0.31269|0.31269	N|N	0.691953|0.691953	P;P|.	0.42908|.	0.753;0.793|.	B;P|.	0.45449|.	0.349;0.481|.	T|T	0.38286|0.38286	-0.9668|-0.9668	10|5	0.44086|.	T|.	0.13|.	-6.7776|-6.7776	9.5641|9.5641	0.39387|0.39387	0.1424:0.7835:0.0:0.0741|0.1424:0.7835:0.0:0.0741	.|.	1644;1661|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	V|C	1661;1581|1290	ENSP00000261435:L1661V|.	ENSP00000261435:L1661V|.	L|S	+|+	1|2	0|0	N4BP2|N4BP2	39822653|39822653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.794000|0.794000	0.44872|0.44872	1.839000|1.839000	0.39220|0.39220	0.522000|0.522000	0.28464|0.28464	0.455000|0.455000	0.32223|0.32223	CTT|TCT		0.428	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		24	62	0	0	0	0.007291	0	24	62		
FRAS1	80144	broad.mit.edu	37	4	79462137	79462137	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:79462137G>A	ENST00000264895.6	+	74	12338	c.11898G>A	c.(11896-11898)gtG>gtA	p.V3966V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3962					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						AGAAGAACGTGAATAGACACT	0.498																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(11896-11898)GTG>GTA		Fraser syndrome 1							79.0	81.0	80.0					4																	79462137		1913	4134	6047	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79462137G>A	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.11898G>A	4.37:g.79462137G>A							p.V3966V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			74	12338	+			3961			Cytoplasmic (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.11898G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.336421	0.01287	.	.	ENSG00000138759	ENST00000512123	.	.	.	6.08	-1.44	0.08856	.	.	.	.	.	T	0.35970	0.0950	.	.	.	0.34600	D	0.716443	.	.	.	.	.	.	T	0.41034	-0.9531	4	.	.	.	.	3.5121	0.07712	0.2393:0.3997:0.2626:0.0984	.	.	.	.	K	2195	.	.	E	+	1	0	FRAS1	79681161	0.517000	0.26226	0.108000	0.21378	0.024000	0.10985	0.246000	0.18160	-0.310000	0.08766	-0.229000	0.12294	GAA		0.498	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					6	98	0	0	0	0.00308	0	6	98		
CENPE	1062	broad.mit.edu	37	4	104082321	104082321	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:104082321C>T	ENST00000265148.3	-	20	2142	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	CENPE_ENST00000380026.3_Missense_Mutation_p.D660N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	685					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCTCCAGATCAACTTGCATT	0.313																																						uc003hxb.1		NaN																	0				ovary(5)|breast(4)	9						c.(2053-2055)GAT>AAT		centromere protein E							151.0	145.0	147.0					4																	104082321		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104082321C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2053G>A	4.37:g.104082321C>T	ENSP00000265148:p.Asp685Asn					CENPE_uc003hxc.1_Missense_Mutation_p.D660N	p.D685N	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	20	2143	-			685			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2053G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515466	0.85389	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.74106	3.83;-0.81;3.83	4.9	4.9	0.64082	.	.	.	.	.	D	0.85478	0.5706	M	0.70275	2.135	0.39763	D	0.972059	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.86306	0.1683	9	0.44086	T	0.13	.	18.0771	0.89431	0.0:1.0:0.0:0.0	.	660;685	Q02224-3;Q02224	.;CENPE_HUMAN	N	685;685;660;685	ENSP00000265148:D685N;ENSP00000369365:D660N;ENSP00000423981:D685N	ENSP00000265148:D685N	D	-	1	0	CENPE	104301770	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.667000	0.68067	2.265000	0.75225	0.650000	0.86243	GAT		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					6	16	0	0	0	0.001984	0	6	16		
CENPE	1062	broad.mit.edu	37	4	104082409	104082409	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:104082409C>T	ENST00000265148.3	-	20	2055		c.e20-1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAAGTTCTTTCTATTGAGAAA	0.303																																						uc003hxb.1		NaN																	0				ovary(5)|breast(4)	9						c.e20-1		centromere protein E							85.0	81.0	82.0					4																	104082409		2201	4299	6500	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104082409C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1966-1G>A	4.37:g.104082409C>T						CENPE_uc003hxc.1_Splice_Site_p.K631_splice	p.K656_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	20	2056	-								A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.1966_splice	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111366	0.20714	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6364	0.88123	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPE	104301858	1.000000	0.71417	0.914000	0.36105	0.016000	0.09150	5.288000	0.65651	2.157000	0.67596	0.650000	0.86243	.		0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				Intron	3	13	0	0	0	0.009096	0	3	13		
SEC24B	10427	broad.mit.edu	37	4	110415839	110415839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:110415839C>T	ENST00000265175.5	+	6	1370	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	SEC24B_ENST00000504968.2_Missense_Mutation_p.P470S|SEC24B_ENST00000399100.2_Missense_Mutation_p.P404S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	439					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGCTTCTGCTCCAGCTCCAGC	0.488																																						uc003hzk.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1315-1317)CCA>TCA		SEC24 (S. cerevisiae) homolog B isoform a							103.0	111.0	108.0					4																	110415839		2167	4295	6462	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110415839C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1315C>T	4.37:g.110415839C>T	ENSP00000265175:p.Pro439Ser					SEC24B_uc003hzl.2_Missense_Mutation_p.P404S|SEC24B_uc011cfp.1_Missense_Mutation_p.P470S|SEC24B_uc011cfq.1_Missense_Mutation_p.P439S|SEC24B_uc011cfr.1_Missense_Mutation_p.P404S	p.P439S	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	6	1370	+		Hepatocellular(203;0.217)	439					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.1315C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.858365	0.00558	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.80738	-1.21;-1.36;-1.41	3.87	0.225	0.15325	.	2.614030	0.02282	N	0.069491	T	0.63307	0.2500	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.002;0.001	B;B;B;B;B	0.06405	0.001;0.0;0.001;0.002;0.001	T	0.50742	-0.8792	10	0.24483	T	0.36	.	6.4909	0.22115	0.0:0.5723:0.0:0.4277	.	354;38;470;404;439	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	S	470;404;439	ENSP00000428564:P470S;ENSP00000382051:P404S;ENSP00000265175:P439S	ENSP00000265175:P439S	P	+	1	0	SEC24B	110635288	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.299000	0.08254	-0.001000	0.14495	-1.200000	0.01667	CCA		0.488	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2				40	107	0	0	0	0.01441	0	40	107		
FAT4	79633	broad.mit.edu	37	4	126238820	126238820	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126238820C>T	ENST00000394329.3	+	1	1267	c.1254C>T	c.(1252-1254)agC>agT	p.S418S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGAACCTGAGCCTAATCAAGG	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1252-1254)AGC>AGT		FAT tumor suppressor homolog 4 precursor							35.0	38.0	37.0					4																	126238820		2029	4195	6224	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238820C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1254C>T	4.37:g.126238820C>T			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.S418S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1254	+			418			Cadherin 4.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1254C>T	CCDS3732.3																																																																																				0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		11	27	0	0	0	0.013537	0	11	27		
FAT4	79633	broad.mit.edu	37	4	126238826	126238826	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126238826C>T	ENST00000394329.3	+	1	1273	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGCCTAATCAAGGTGGCCA	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1258-1260)ATC>ATT		FAT tumor suppressor homolog 4 precursor							35.0	38.0	37.0					4																	126238826		2034	4196	6230	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238826C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1260C>T	4.37:g.126238826C>T			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.I420I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1260	+			420			Cadherin 4.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1260C>T	CCDS3732.3																																																																																				0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		12	29	0	0	0	0.020292	0	12	29		
FAT4	79633	broad.mit.edu	37	4	126239094	126239094	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239094C>G	ENST00000394329.3	+	1	1541	c.1528C>G	c.(1528-1530)Ctg>Gtg	p.L510V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATGCTAATCTGCGTTACAG	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1528-1530)CTG>GTG		FAT tumor suppressor homolog 4 precursor							60.0	62.0	61.0					4																	126239094		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239094C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1528C>G	4.37:g.126239094C>G	ENSP00000377862:p.Leu510Val		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.L510V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1528	+			510			Cadherin 5.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1528C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	4.220	0.039670	0.08148	.	.	ENSG00000196159	ENST00000394329	T	0.48836	0.8	4.66	2.95	0.34219	Cadherin (4);Cadherin-like (1);	0.000000	0.28940	U	0.013659	T	0.37237	0.0996	N	0.04820	-0.15	0.80722	D	1	D	0.55800	0.973	D	0.66497	0.944	T	0.27673	-1.0067	10	0.02654	T	1	.	10.5336	0.44992	0.0:0.8443:0.0:0.1557	.	510	Q6V0I7	FAT4_HUMAN	V	510	ENSP00000377862:L510V	ENSP00000377862:L510V	L	+	1	2	FAT4	126458544	1.000000	0.71417	0.857000	0.33713	0.994000	0.84299	3.804000	0.55568	0.589000	0.29677	0.561000	0.74099	CTG		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		19	53	0	0	0	0.016522	0	19	53		
FAT4	79633	broad.mit.edu	37	4	126239141	126239141	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239141C>G	ENST00000394329.3	+	1	1588	c.1575C>G	c.(1573-1575)atC>atG	p.I525M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTCCATATCAGTGAACATA	0.537											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1573-1575)ATC>ATG		FAT tumor suppressor homolog 4 precursor							64.0	67.0	66.0					4																	126239141		2200	4292	6492	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239141C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1575C>G	4.37:g.126239141C>G	ENSP00000377862:p.Ile525Met		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.I525M	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1575	+			525			Cadherin 5.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1575C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718226	0.30503	.	.	ENSG00000196159	ENST00000394329	T	0.72615	-0.67	4.66	0.902	0.19290	Cadherin (4);Cadherin-like (1);	0.000000	0.34750	U	0.003717	T	0.78935	0.4362	M	0.77406	2.37	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.73751	-0.3884	10	0.52906	T	0.07	.	4.3769	0.11275	0.1484:0.4559:0.0:0.3957	.	525	Q6V0I7	FAT4_HUMAN	M	525	ENSP00000377862:I525M	ENSP00000377862:I525M	I	+	3	3	FAT4	126458591	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	0.962000	0.29280	-0.045000	0.13468	0.561000	0.74099	ATC		0.537	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		25	71	0	0	0	0.015359	0	25	71		
FAT4	79633	broad.mit.edu	37	4	126239282	126239282	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239282C>G	ENST00000394329.3	+	1	1729	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGTAACTCTCCTAGATGTGA	0.498											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1714-1716)CTC>CTG		FAT tumor suppressor homolog 4 precursor							51.0	53.0	53.0					4																	126239282		1954	4156	6110	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239282C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1716C>G	4.37:g.126239282C>G			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.L572L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1716	+			572			Cadherin 5.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1716C>G	CCDS3732.3																																																																																				0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		18	44	0	0	0	0.008871	0	18	44		
FAT4	79633	broad.mit.edu	37	4	126239473	126239473	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239473C>T	ENST00000394329.3	+	1	1920	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGTCTGGATCCTGTGTCTGGG	0.567																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1906-1908)CCT>CTT		FAT tumor suppressor homolog 4 precursor							71.0	72.0	71.0					4																	126239473		1979	4154	6133	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239473C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1907C>T	4.37:g.126239473C>T	ENSP00000377862:p.Pro636Leu						p.P636L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1907	+			636			Extracellular (Potential).|Cadherin 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1907C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218783	0.39201	.	.	ENSG00000196159	ENST00000394329	T	0.55234	0.53	4.77	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.227062	0.21546	U	0.072810	T	0.58495	0.2126	M	0.77103	2.36	0.80722	D	1	P	0.41848	0.763	B	0.42959	0.403	T	0.63941	-0.6523	10	0.49607	T	0.09	.	14.4564	0.67418	0.1482:0.8518:0.0:0.0	.	636	Q6V0I7	FAT4_HUMAN	L	636	ENSP00000377862:P636L	ENSP00000377862:P636L	P	+	2	0	FAT4	126458923	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	4.606000	0.61126	1.220000	0.43490	0.561000	0.74099	CCT		0.567	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		21	34	0	0	0	0.012319	0	21	34		
FAT4	79633	broad.mit.edu	37	4	126239494	126239494	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239494C>G	ENST00000394329.3	+	1	1941	c.1928C>G	c.(1927-1929)aCt>aGt	p.T643S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGTTGAGTACTATTTCCTCC	0.552																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1927-1929)ACT>AGT		FAT tumor suppressor homolog 4 precursor							76.0	75.0	75.0					4																	126239494		1968	4145	6113	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239494C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1928C>G	4.37:g.126239494C>G	ENSP00000377862:p.Thr643Ser						p.T643S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1928	+			643			Extracellular (Potential).|Cadherin 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1928C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681575	0.14907	.	.	ENSG00000196159	ENST00000394329	T	0.01725	4.67	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.000000	0.35262	U	0.003321	T	0.09113	0.0225	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.00402	-1.1762	10	0.66056	D	0.02	.	13.2917	0.60274	0.158:0.842:0.0:0.0	.	643	Q6V0I7	FAT4_HUMAN	S	643	ENSP00000377862:T643S	ENSP00000377862:T643S	T	+	2	0	FAT4	126458944	1.000000	0.71417	0.408000	0.26446	0.059000	0.15707	5.625000	0.67770	2.546000	0.85860	0.655000	0.94253	ACT		0.552	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		17	29	0	0	0	0.006122	0	17	29		
FAT4	79633	broad.mit.edu	37	4	126239578	126239578	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239578C>G	ENST00000394329.3	+	1	2025	c.2012C>G	c.(2011-2013)tCa>tGa	p.S671*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCCAGTCATCAATGGCTCGC	0.488																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2011-2013)TCA>TGA		FAT tumor suppressor homolog 4 precursor							89.0	89.0	89.0					4																	126239578		1899	4124	6023	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239578C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2012C>G	4.37:g.126239578C>G	ENSP00000377862:p.Ser671*						p.S671*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2012	+			671			Extracellular (Potential).|Cadherin 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.2012C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	34	5.364841	0.95877	.	.	ENSG00000196159	ENST00000394329	.	.	.	4.76	4.76	0.60689	.	0.000000	0.30347	U	0.009832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.9812	0.89141	0.0:1.0:0.0:0.0	.	.	.	.	X	671	.	ENSP00000377862:S671X	S	+	2	0	FAT4	126459028	1.000000	0.71417	0.174000	0.22961	0.043000	0.13939	5.753000	0.68736	2.465000	0.83290	0.655000	0.94253	TCA		0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		24	51	0	0	0	0.00632	0	24	51		
FAT4	79633	broad.mit.edu	37	4	126239780	126239780	+	Silent	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239780C>A	ENST00000394329.3	+	1	2227	c.2214C>A	c.(2212-2214)gtC>gtA	p.V738V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	738	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTTCAGGTCAATGCTCAGA	0.453																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2212-2214)GTC>GTA		FAT tumor suppressor homolog 4 precursor							85.0	82.0	83.0					4																	126239780		1943	4145	6088	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239780C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2214C>A	4.37:g.126239780C>A							p.V738V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2214	+			738			Cadherin 7.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.2214C>A	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		15	39	1	0	3.27435e-08	0.020292	3.4296e-08	15	39		
FAT4	79633	broad.mit.edu	37	4	126240344	126240344	+	Silent	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240344C>A	ENST00000394329.3	+	1	2791	c.2778C>A	c.(2776-2778)ggC>ggA	p.G926G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	926	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTCAATGGCATGGTACTCT	0.473																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2776-2778)GGC>GGA		FAT tumor suppressor homolog 4 precursor							56.0	58.0	57.0					4																	126240344		1942	4160	6102	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240344C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2778C>A	4.37:g.126240344C>A							p.G926G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2778	+			926			Cadherin 9.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.2778C>A	CCDS3732.3																																																																																				0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		8	40	1	0	0.000978159	0.010729	0.00101146	8	40		
FAT4	79633	broad.mit.edu	37	4	126240492	126240492	+	Missense_Mutation	SNP	C	C	T	rs367831459		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240492C>T	ENST00000394329.3	+	1	2939	c.2926C>T	c.(2926-2928)Ctc>Ttc	p.L976F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	976	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTCCCACAGCTCTCCTCTAG	0.443																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2926-2928)CTC>TTC		FAT tumor suppressor homolog 4 precursor		C	PHE/LEU	1,3931		0,1,1965	87.0	87.0	87.0		2926	5.1	1.0	4		87	0,8286		0,0,4143	no	missense	FAT4	NM_024582.4	22	0,1,6108	TT,TC,CC		0.0,0.0254,0.0082	possibly-damaging	976/4982	126240492	1,12217	1966	4143	6109	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240492C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2926C>T	4.37:g.126240492C>T	ENSP00000377862:p.Leu976Phe						p.L976F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2926	+			976			Cadherin 9.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2926C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196931	0.38806	2.54E-4	0.0	ENSG00000196159	ENST00000394329	T	0.03065	4.06	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.30611	U	0.009250	T	0.11196	0.0273	M	0.64676	1.99	0.80722	D	1	P	0.52316	0.952	P	0.56865	0.808	T	0.00862	-1.1536	10	0.39692	T	0.17	.	12.099	0.53772	0.0:0.9225:0.0:0.0775	.	976	Q6V0I7	FAT4_HUMAN	F	976	ENSP00000377862:L976F	ENSP00000377862:L976F	L	+	1	0	FAT4	126459942	1.000000	0.71417	0.999000	0.59377	0.477000	0.33069	5.786000	0.69006	2.652000	0.90054	0.655000	0.94253	CTC		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		20	53	0	0	0	0.014323	0	20	53		
FAT4	79633	broad.mit.edu	37	4	126240499	126240499	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240499C>A	ENST00000394329.3	+	1	2946	c.2933C>A	c.(2932-2934)tCt>tAt	p.S978Y		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	978	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCTCTCCTCTAGTGTCATC	0.453																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2932-2934)TCT>TAT		FAT tumor suppressor homolog 4 precursor							91.0	90.0	90.0					4																	126240499		1963	4145	6108	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240499C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2933C>A	4.37:g.126240499C>A	ENSP00000377862:p.Ser978Tyr						p.S978Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2933	+			978			Cadherin 9.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2933C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668333	0.47677	.	.	ENSG00000196159	ENST00000394329	T	0.55588	0.51	5.1	5.1	0.69264	Cadherin (5);Cadherin-like (1);	0.000000	0.34411	U	0.003997	T	0.81088	0.4750	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86446	0.1770	10	0.87932	D	0	.	18.7444	0.91787	0.0:1.0:0.0:0.0	.	978	Q6V0I7	FAT4_HUMAN	Y	978	ENSP00000377862:S978Y	ENSP00000377862:S978Y	S	+	2	0	FAT4	126459949	1.000000	0.71417	0.990000	0.47175	0.335000	0.28730	7.495000	0.81514	2.652000	0.90054	0.655000	0.94253	TCT		0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		22	55	1	0	4.26978e-12	0.01892	4.53081e-12	22	55		
FAT4	79633	broad.mit.edu	37	4	126240563	126240563	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240563C>G	ENST00000394329.3	+	1	3010	c.2997C>G	c.(2995-2997)ctC>ctG	p.L999L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	999	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGACCAACTCTCTTATGAAG	0.408																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2995-2997)CTC>CTG		FAT tumor suppressor homolog 4 precursor							121.0	114.0	116.0					4																	126240563		1898	4121	6019	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240563C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2997C>G	4.37:g.126240563C>G							p.L999L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2997	+			999			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.2997C>G	CCDS3732.3																																																																																				0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		34	85	0	0	0	0.010771	0	34	85		
FAT4	79633	broad.mit.edu	37	4	126240606	126240606	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240606C>G	ENST00000394329.3	+	1	3053	c.3040C>G	c.(3040-3042)Cga>Gga	p.R1014G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1014	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTGAATTCTCGATTCTTTAA	0.383																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3040-3042)CGA>GGA		FAT tumor suppressor homolog 4 precursor							101.0	95.0	97.0					4																	126240606		1864	4102	5966	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240606C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3040C>G	4.37:g.126240606C>G	ENSP00000377862:p.Arg1014Gly						p.R1014G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3040	+			1014			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3040C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059608	0.19987	.	.	ENSG00000196159	ENST00000394329	T	0.53206	0.63	5.0	4.17	0.49024	Cadherin (3);Cadherin-like (1);	0.000000	0.29459	U	0.012094	T	0.49609	0.1567	M	0.78049	2.395	0.80722	D	1	B	0.22146	0.065	B	0.34418	0.182	T	0.43196	-0.9406	10	0.23891	T	0.37	.	8.2021	0.31430	0.2701:0.6506:0.0:0.0793	.	1014	Q6V0I7	FAT4_HUMAN	G	1014	ENSP00000377862:R1014G	ENSP00000377862:R1014G	R	+	1	2	FAT4	126460056	0.968000	0.33430	1.000000	0.80357	0.981000	0.71138	1.590000	0.36654	1.339000	0.45563	0.655000	0.94253	CGA		0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		27	61	0	0	0	0.00632	0	27	61		
FAT4	79633	broad.mit.edu	37	4	126240753	126240753	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240753C>G	ENST00000394329.3	+	1	3200	c.3187C>G	c.(3187-3189)Caa>Gaa	p.Q1063E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1063	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGTGAACTTCAAGACAGATA	0.373																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3187-3189)CAA>GAA		FAT tumor suppressor homolog 4 precursor							150.0	141.0	144.0					4																	126240753		1866	4099	5965	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240753C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3187C>G	4.37:g.126240753C>G	ENSP00000377862:p.Gln1063Glu						p.Q1063E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3187	+			1063			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3187C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765278	0.31228	.	.	ENSG00000196159	ENST00000394329	T	0.52983	0.64	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	0.000000	0.33419	U	0.004930	T	0.55784	0.1942	L	0.43923	1.385	0.80722	D	1	D	0.57899	0.981	D	0.79108	0.992	T	0.46219	-0.9207	10	0.12430	T	0.62	.	12.6213	0.56605	0.1654:0.8346:0.0:0.0	.	1063	Q6V0I7	FAT4_HUMAN	E	1063	ENSP00000377862:Q1063E	ENSP00000377862:Q1063E	Q	+	1	0	FAT4	126460203	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.392000	0.59659	2.354000	0.79902	0.462000	0.41574	CAA		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		46	86	0	0	0	0.01441	0	46	86		
FAT4	79633	broad.mit.edu	37	4	126240826	126240826	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240826C>G	ENST00000394329.3	+	1	3273	c.3260C>G	c.(3259-3261)aCt>aGt	p.T1087S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1087	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGAATGTTACTGTAATTTTA	0.393																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3259-3261)ACT>AGT		FAT tumor suppressor homolog 4 precursor							169.0	163.0	165.0					4																	126240826		1878	4095	5973	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240826C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3260C>G	4.37:g.126240826C>G	ENSP00000377862:p.Thr1087Ser						p.T1087S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3260	+			1087			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3260C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	5.330	0.246216	0.10130	.	.	ENSG00000196159	ENST00000394329	T	0.54479	0.57	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	0.000000	0.35262	U	0.003332	T	0.46308	0.1386	L	0.49513	1.565	0.80722	D	1	B	0.16802	0.019	B	0.21708	0.036	T	0.35599	-0.9782	10	0.17832	T	0.49	.	14.0927	0.65002	0.0:0.8488:0.1511:0.0	.	1087	Q6V0I7	FAT4_HUMAN	S	1087	ENSP00000377862:T1087S	ENSP00000377862:T1087S	T	+	2	0	FAT4	126460276	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	2.342000	0.43992	2.354000	0.79902	0.462000	0.41574	ACT		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		38	100	0	0	0	0.013114	0	38	100		
FAT4	79633	broad.mit.edu	37	4	126241103	126241103	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126241103C>G	ENST00000394329.3	+	1	3550	c.3537C>G	c.(3535-3537)gtC>gtG	p.V1179V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1179	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTTTACAGTCATAGCAACAG	0.428																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3535-3537)GTC>GTG		FAT tumor suppressor homolog 4 precursor							96.0	97.0	97.0					4																	126241103		1936	4132	6068	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241103C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3537C>G	4.37:g.126241103C>G							p.V1179V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3537	+			1179			Cadherin 11.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3537C>G	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		36	69	0	0	0	0.010771	0	36	69		
HSPA4L	22824	broad.mit.edu	37	4	128722997	128722997	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:128722997G>C	ENST00000296464.4	+	6	998	c.587G>C	c.(586-588)aGa>aCa	p.R196T	HSPA4L_ENST00000439123.2_Missense_Mutation_p.R227T|HSPA4L_ENST00000505726.1_Missense_Mutation_p.R170T|HSPA4L_ENST00000508776.1_Missense_Mutation_p.R196T	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	196					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAGAAACCAAGAAATGTAGTA	0.328																																						uc003ifm.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(586-588)AGA>ACA		heat shock 70kDa protein 4-like							127.0	124.0	125.0					4																	128722997		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128722997G>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.587G>C	4.37:g.128722997G>C	ENSP00000296464:p.Arg196Thr					HSPA4L_uc010iny.1_Missense_Mutation_p.R155T|HSPA4L_uc011cgr.1_Missense_Mutation_p.R163T	p.R196T	NM_014278	NP_055093	O95757	HS74L_HUMAN			6	840	+			196					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.587G>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667175	0.88251	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.994;0.994	T	0.55244	-0.8171	10	0.62326	D	0.03	.	18.0899	0.89471	0.0:0.0:1.0:0.0	.	170;196;196	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	T	196;227;196;155;170	ENSP00000422482:R196T;ENSP00000393926:R227T;ENSP00000296464:R196T;ENSP00000427305:R155T;ENSP00000425645:R170T	ENSP00000296464:R196T	R	+	2	0	HSPA4L	128942447	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.901000	0.92560	2.523000	0.85059	0.650000	0.86243	AGA		0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3		NM_014278		15	13	0	0	0	0.006122	0	15	13		
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(2725-2727)ACT>ATT		OTU domain containing 4 protein isoform 3							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_uc003ijz.3_Missense_Mutation_p.T908I	p.T909I	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	2864	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		5	137	0	0	0	0.001984	0	5	137		
FGA	2243	broad.mit.edu	37	4	155506692	155506692	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:155506692C>T	ENST00000302053.3	-	5	1967	c.1889G>A	c.(1888-1890)aGa>aAa	p.R630K	FGA_ENST00000403106.3_Missense_Mutation_p.R630K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	630	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	gtggatacctctgaCAGGGCG	0.488																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	0				ovary(2)|breast(1)	3						c.(1888-1890)AGA>AAA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						118.0	107.0	111.0					4																	155506692		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506692C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1889G>A	4.37:g.155506692C>T	ENSP00000306361:p.Arg630Lys					FGA_uc003ioe.1_Missense_Mutation_p.R630K|FGA_uc003iof.1_3'UTR	p.R630K	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1947	-	all_hematologic(180;0.215)	Renal(120;0.0458)	630			By similarity.|Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1889G>A	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.33|10.33	1.321032|1.321032	0.23994|0.23994	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.75477	.|-0.94;2.32	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.|0.351819	.|0.33272	.|N	.|0.005091	T|T	0.75953|0.75953	0.3920|0.3920	L|L	0.39566|0.39566	1.225|1.225	0.27222|0.27222	N|N	0.959634|0.959634	.|D;D	.|0.69078	.|0.997;0.987	.|P;P	.|0.62184	.|0.894;0.899	T|T	0.64976|0.64976	-0.6280|-0.6280	5|10	.|0.08179	.|T	.|0.78	.|.	13.6357|13.6357	0.62221|0.62221	0.0:0.8451:0.1549:0.0|0.0:0.8451:0.1549:0.0	.|.	.|630;630	.|P02671-2;P02671	.|.;FIBA_HUMAN	K|K	272|630	.|ENSP00000306361:R630K;ENSP00000385981:R630K	.|ENSP00000306361:R630K	E|R	-|-	1|2	0|0	FGA|FGA	155726142|155726142	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.714000|0.714000	0.41099|0.41099	1.622000|1.622000	0.36997|0.36997	2.865000|2.865000	0.98341|0.98341	0.609000|0.609000	0.83330|0.83330	GAG|AGA		0.488	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		19	51	0	0	0	0.008871	0	19	51		
TENM3	55714	broad.mit.edu	37	4	183710449	183710449	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:183710449C>T	ENST00000511685.1	+	25	5631	c.5508C>T	c.(5506-5508)acC>acT	p.T1836T	TENM3_ENST00000406950.2_Silent_p.T1836T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1836					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)										AGCGAGGCACCACTAGCGAGA	0.512																																						uc003ivd.1		NaN																	0					0						c.(5506-5508)ACC>ACT		odz, odd Oz/ten-m homolog 3							86.0	87.0	87.0					4																	183710449		2014	4176	6190	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183710449C>T	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.5508C>T	4.37:g.183710449C>T							p.T1836T	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)	24	5545	+		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)	1836			YD 5.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5508C>T	CCDS47165.1																																																																																				0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				7	43	0	0	0	0.006214	0	7	43		
MARCH6	10299	broad.mit.edu	37	5	10390534	10390534	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:10390534G>C	ENST00000274140.5	+	6	630	c.498G>C	c.(496-498)caG>caC	p.Q166H	MARCH6_ENST00000503788.1_Missense_Mutation_p.Q61H|MARCH6_ENST00000449913.2_Missense_Mutation_p.Q118H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	166					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGAGAGAGCAGATAGTCCATG	0.488																																						uc003jet.1		NaN																	0				ovary(1)|breast(1)	2						c.(496-498)CAG>CAC		membrane-associated ring finger (C3HC4) 6							151.0	145.0	147.0					5																	10390534		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10390534G>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.498G>C	5.37:g.10390534G>C	ENSP00000274140:p.Gln166His					MARCH6_uc011cmu.1_Missense_Mutation_p.Q118H|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.Q61H	p.Q166H	NM_005885	NP_005876	O60337	MARH6_HUMAN			6	681	+			166			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.498G>C	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921057	0.73213	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.54479	1.75;0.57;1.83	5.58	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.87578	0.998;0.972;0.995	T	0.65619	-0.6124	10	0.16896	T	0.51	-19.1888	7.4194	0.27063	0.2508:0.0:0.7492:0.0	.	61;118;166	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	H	118;61;166	ENSP00000414643:Q118H;ENSP00000425930:Q61H;ENSP00000274140:Q166H	ENSP00000274140:Q166H	Q	+	3	2	MARCH6	10443534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.970000	0.56824	2.623000	0.88846	0.650000	0.86243	CAG		0.488	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2		NM_005885		42	143	0	0	0	0.01441	0	42	143		
OCLN	100506658	broad.mit.edu	37	5	68805036	68805036	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:68805036C>G	ENST00000355237.2	+	3	555	c.119C>G	c.(118-120)tCt>tGt	p.S40C	OCLN_ENST00000380766.2_Missense_Mutation_p.S40C|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.S40C|OCLN_ENST00000542132.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	40					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCAATGCTCTCTCAGCCAGCC	0.403																																						uc003jwu.2		NaN																	0					0						c.(118-120)TCT>TGT		occludin							104.0	106.0	106.0					5																	68805036		2203	4300	6503	SO:0001583	missense	4950							g.chr5:68805036C>G	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.119C>G	5.37:g.68805036C>G	ENSP00000347379:p.Ser40Cys					OCLN_uc003jwv.3_Missense_Mutation_p.S40C	p.S40C	NM_002538	NP_002529				OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	555	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)						B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.119C>G	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196460	0.58126	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.79454	-1.24;-1.24;-1.27	6.04	6.04	0.98038	.	0.221146	0.49305	D	0.000146	D	0.87354	0.6156	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.87247	0.2270	10	0.72032	D	0.01	-30.632	19.3663	0.94464	0.0:1.0:0.0:0.0	.	40	Q16625	OCLN_HUMAN	C	40	ENSP00000347379:S40C;ENSP00000379719:S40C;ENSP00000370143:S40C	ENSP00000347379:S40C	S	+	2	0	OCLN	68840792	0.999000	0.42202	0.994000	0.49952	0.292000	0.27327	4.969000	0.63735	2.873000	0.98535	0.563000	0.77884	TCT		0.403	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1		NM_002538		36	81	0	0	0	0.021022	0	36	81		
ATP6AP1L	92270	broad.mit.edu	37	5	81608660	81608660	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:81608660T>C	ENST00000380167.4	+	9	1687	c.362T>C	c.(361-363)aTt>aCt	p.I121T	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.I121T|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	121					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						GTCACTTTTATTGATTTCCAG	0.502											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003khv.2		NaN																	0					0						c.(361-363)ATT>ACT		ATPase, H+ transporting, lysosomal accessory							67.0	71.0	69.0					5																	81608660		2203	4300	6503	SO:0001583	missense	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608660T>C	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.362T>C	5.37:g.81608660T>C	ENSP00000369513:p.Ile121Thr		OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_uc003khw.2_Missense_Mutation_p.I121T	p.I121T	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN			9	1687	+			121						Missense_Mutation	SNP	ENST00000380167.4	37	c.362T>C	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	T	1.463	-0.561971	0.03939	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.55	4.38	0.52667	.	0.507049	0.21161	N	0.079151	T	0.35740	0.0942	L	0.28014	0.82	0.33598	D	0.601931	B	0.16603	0.018	B	0.14578	0.011	T	0.39272	-0.9622	9	0.12766	T	0.61	.	10.2451	0.43336	0.0:0.0819:0.0:0.9181	.	121	Q52LC2	VAS1L_HUMAN	T	121	.	ENSP00000369513:I121T	I	+	2	0	ATP6AP1L	81644416	0.106000	0.21978	0.805000	0.32314	0.265000	0.26407	1.299000	0.33424	0.930000	0.37217	0.528000	0.53228	ATT		0.502	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3		NM_001017971		9	38	0	0	0	0.013537	0	9	38		
ARRDC3	57561	broad.mit.edu	37	5	90670966	90670966	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:90670966C>G	ENST00000265138.3	-	5	909	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	215					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAGCAGTTCTCAATCTCAGCA	0.388																																						uc003kjz.2		NaN																	0				ovary(1)|breast(1)	2						c.(643-645)GAG>CAG		arrestin domain containing 3							59.0	54.0	56.0					5																	90670966		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90670966C>G	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.643G>C	5.37:g.90670966C>G	ENSP00000265138:p.Glu215Gln						p.E215Q	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	5	883	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	215					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.643G>C	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274127	0.95459	.	.	ENSG00000113369	ENST00000265138	T	0.07216	3.21	6.08	6.08	0.98989	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	M	0.81802	2.56	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.00595	-1.1653	10	0.46703	T	0.11	-17.7314	20.6721	0.99693	0.0:1.0:0.0:0.0	.	215	Q96B67	ARRD3_HUMAN	Q	215	ENSP00000265138:E215Q	ENSP00000265138:E215Q	E	-	1	0	ARRDC3	90706722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.894000	0.99253	0.591000	0.81541	GAG		0.388	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2		NM_020801		4	33	0	0	0	0.009096	0	4	33		
SAR1B	51128	broad.mit.edu	37	5	133942733	133942733	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:133942733C>G	ENST00000402673.2	-	7	782	c.504G>C	c.(502-504)ctG>ctC	p.L168L	SAR1B_ENST00000502539.1_Silent_p.L100L|SAR1B_ENST00000507419.1_Silent_p.L100L|SAR1B_ENST00000439578.1_Silent_p.L168L|SAR1B_ENST00000509937.1_Silent_p.L100L	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCGGGCATTCAGTTCTTTCA	0.403																																						uc003kzq.2		NaN																	0					0						c.(502-504)CTG>CTC		SAR1a gene homolog 2							122.0	125.0	124.0					5																	133942733		2203	4300	6503	SO:0001819	synonymous_variant	51128				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding	g.chr5:133942733C>G	AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.504G>C	5.37:g.133942733C>G						SAR1B_uc003kzr.2_Silent_p.L168L	p.L168L	NM_001033503	NP_001028675	Q9Y6B6	SAR1B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	751	-			168					D3DQA4|Q567T4	Silent	SNP	ENST00000402673.2	37	c.504G>C	CCDS4177.1																																																																																				0.403	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2		NM_016103		24	62	0	0	0	0.007291	0	24	62		
PCDHB10	56126	broad.mit.edu	37	5	140572567	140572567	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:140572567G>A	ENST00000239446.4	+	1	626	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACAGCTGAAGGGACAGC	0.413																																						uc003lix.2		NaN																	0				ovary(1)|skin(1)	2						c.(442-444)GAA>AAA		protocadherin beta 10 precursor							75.0	85.0	82.0					5																	140572567		2203	4298	6501	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572567G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.442G>A	5.37:g.140572567G>A	ENSP00000239446:p.Glu148Lys						p.E148K	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	616	+			148			Cadherin 2.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.442G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944458	0.18356	.	.	ENSG00000120324	ENST00000239446	T	0.01705	4.68	3.52	1.46	0.22682	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01489	0.0048	N	0.04260	-0.245	0.09310	N	1	B	0.33345	0.409	B	0.38755	0.281	T	0.53358	-0.8450	9	0.62326	D	0.03	.	12.0369	0.53431	0.0:0.6226:0.3774:0.0	.	148	Q9UN67	PCDBA_HUMAN	K	148	ENSP00000239446:E148K	ENSP00000239446:E148K	E	+	1	0	PCDHB10	140552751	0.000000	0.05858	0.032000	0.17829	0.276000	0.26787	-2.872000	0.00720	0.808000	0.34231	0.556000	0.70494	GAA		0.413	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930		27	42	0	0	0	0.00632	0	27	42		
NR3C1	2908	broad.mit.edu	37	5	142680325	142680325	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:142680325C>T	ENST00000343796.2	-	5	2465	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	NR3C1_ENST00000394466.2_Missense_Mutation_p.R492Q|NR3C1_ENST00000415690.2_Missense_Mutation_p.R491Q|NR3C1_ENST00000231509.3_Missense_Mutation_p.R492Q|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000503201.1_Missense_Mutation_p.R491Q|NR3C1_ENST00000504572.1_Missense_Mutation_p.R492Q|NR3C1_ENST00000394464.2_Missense_Mutation_p.R491Q|NR3C1_ENST00000416954.2_Missense_Mutation_p.R94Q|NR3C1_ENST00000424646.2_Missense_Mutation_p.R465Q	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	491	Hinge.|Interaction with CLOCK.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	CTTTGTTTTTCGAGCTGTGGG	0.348																																						uc003lmz.2		NaN																	0				ovary(2)	2						c.(1471-1473)CGA>CAA		glucocorticoid receptor isoform alpha	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						47.0	49.0	48.0					5																	142680325		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142680325C>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1472G>A	5.37:g.142680325C>T	ENSP00000343205:p.Arg491Gln					NR3C1_uc003lmy.2_Missense_Mutation_p.R492Q|NR3C1_uc003lna.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnb.2_Missense_Mutation_p.R491Q|NR3C1_uc011dbk.1_Missense_Mutation_p.R94Q|NR3C1_uc003lnc.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnd.2_Missense_Mutation_p.R491Q|NR3C1_uc003lne.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnf.2_Missense_Mutation_p.R492Q	p.R491Q	NM_000176	NP_000167	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		5	1964	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	491			Hinge.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.1472G>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	36	5.753541	0.96890	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.96334	-3.98;-3.98;1.27;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	5.73	5.73	0.89815	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (1);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.983;0.996;0.995	D	0.99338	1.0911	10	0.87932	D	0	.	19.8905	0.96928	0.0:1.0:0.0:0.0	.	491;491;492	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Q	491;491;491;465;492;492;492;94;491	ENSP00000377977:R491Q;ENSP00000343205:R491Q;ENSP00000387672:R491Q;ENSP00000405282:R465Q;ENSP00000422518:R492Q;ENSP00000377979:R492Q;ENSP00000231509:R492Q;ENSP00000404218:R94Q;ENSP00000427672:R491Q	ENSP00000231509:R492Q	R	-	2	0	NR3C1	142660518	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.434000	0.80377	2.692000	0.91855	0.655000	0.94253	CGA		0.348	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1				3	7	0	0	0	0.004672	0	3	7		
FBXO38	81545	broad.mit.edu	37	5	147821699	147821699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:147821699G>A	ENST00000340253.5	+	22	3724	c.3556G>A	c.(3556-3558)Gac>Aac	p.D1186N	FBXO38_ENST00000296701.6_Missense_Mutation_p.D941N|FBXO38_ENST00000394370.3_Missense_Mutation_p.D1111N|FBXO38_ENST00000513826.1_Missense_Mutation_p.D941N			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1186					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGAAGATGACTACATTTA	0.458																																						uc003lpf.1		NaN																	0				ovary(4)|skin(2)	6						c.(3556-3558)GAC>AAC		F-box protein 38 isoform b							162.0	145.0	151.0					5																	147821699		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147821699G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3556G>A	5.37:g.147821699G>A	ENSP00000342023:p.Asp1186Asn					FBXO38_uc003lpg.1_Missense_Mutation_p.D1111N|FBXO38_uc003lph.2_Missense_Mutation_p.D941N	p.D1186N	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	3676	+			1186					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.3556G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.656360	0.88056	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.37058	1.22;1.3;1.28;1.3	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	L	0.32530	0.975	0.39846	D	0.973175	D;D;D	0.89917	0.996;0.998;1.0	D;D;D	0.87578	0.987;0.978;0.998	T	0.27640	-1.0068	10	0.20046	T	0.44	-18.8845	18.3496	0.90333	0.0:0.0:1.0:0.0	.	941;1111;1186	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	N	1186;941;1111;941	ENSP00000342023:D1186N;ENSP00000296701:D941N;ENSP00000377895:D1111N;ENSP00000426410:D941N	ENSP00000296701:D941N	D	+	1	0	FBXO38	147801892	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.420000	0.97426	2.756000	0.94617	0.655000	0.94253	GAC		0.458	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2		NM_030793		12	80	0	0	0	0.016723	0	12	80		
PPARD	5467	broad.mit.edu	37	6	35392554	35392554	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:35392554G>C	ENST00000311565.4	+	8	1425	c.1076G>C	c.(1075-1077)gGa>gCa	p.G359A	PPARD_ENST00000360694.3_Missense_Mutation_p.G359A|PPARD_ENST00000337400.2_Missense_Mutation_p.G359A|PPARD_ENST00000448077.2_Missense_Mutation_p.G320A|PPARD_ENST00000444397.1_Missense_Mutation_p.G359A|PPARD_ENST00000540939.1_Missense_Mutation_p.G256A|PPARD_ENST00000418635.2_Missense_Mutation_p.G261A	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	359	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ATTCTGTGTGGAGGTGAGTGA	0.562																																						uc003okm.2		NaN																	0				ovary(1)	1						c.(1075-1077)GGA>GCA		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						41.0	41.0	41.0					6																	35392554		2201	4300	6501	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392554G>C	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1076G>C	6.37:g.35392554G>C	ENSP00000310928:p.Gly359Ala					PPARD_uc003okl.2_Missense_Mutation_p.G359A|PPARD_uc003okn.2_Missense_Mutation_p.G359A|PPARD_uc011dtb.1_Missense_Mutation_p.G320A|PPARD_uc011dtc.1_Missense_Mutation_p.G261A	p.G359A	NM_006238	NP_006229	Q03181	PPARD_HUMAN			7	1385	+			359			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.1076G>C	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400466	0.83120	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.143879	0.64402	D	0.000006	T	0.72277	0.3440	L	0.39467	1.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.999	T	0.69038	-0.5251	10	0.39692	T	0.17	.	20.0699	0.97718	0.0:0.0:1.0:0.0	.	261;320;359;359	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	A	320;359;261;359;359;359;256	ENSP00000414372:G320A;ENSP00000353916:G359A;ENSP00000413314:G261A;ENSP00000410837:G359A;ENSP00000310928:G359A;ENSP00000337063:G359A;ENSP00000443759:G256A	ENSP00000310928:G359A	G	+	2	0	PPARD	35500532	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.824000	0.99380	2.741000	0.93983	0.655000	0.94253	GGA		0.562	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1		NM_006238		15	22	0	0	0	0.008871	0	15	22		
TDRD6	221400	broad.mit.edu	37	6	46657989	46657989	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:46657989G>A	ENST00000316081.6	+	1	2124	c.2124G>A	c.(2122-2124)caG>caA	p.Q708Q	TDRD6_ENST00000544460.1_Silent_p.Q708Q|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	708					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGGAGAGCAGAAAGCCAAGA	0.408																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(2122-2124)CAG>CAA		tudor domain containing 6							40.0	41.0	41.0					6																	46657989		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657989G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2124G>A	6.37:g.46657989G>A						TDRD6_uc010jze.2_Silent_p.Q702Q	p.Q708Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2124	+			708					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.2124G>A	CCDS34470.1																																																																																				0.408	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		15	24	0	0	0	0.006122	0	15	24		
NT5E	4907	broad.mit.edu	37	6	86194979	86194979	+	Missense_Mutation	SNP	G	G	A	rs565537252		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:86194979G>A	ENST00000257770.3	+	4	827	c.778G>A	c.(778-780)Gct>Act	p.A260T	NT5E_ENST00000369651.3_Missense_Mutation_p.A260T	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	260					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	AGAGGTGCCTGCTGGGAAGTA	0.502																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(778-780)GCT>ACT		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						95.0	81.0	86.0					6																	86194979		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86194979G>A	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.778G>A	6.37:g.86194979G>A	ENSP00000257770:p.Ala260Thr					NT5E_uc010kbr.2_Missense_Mutation_p.A260T	p.A260T	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	4	1334	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	260					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.778G>A	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554832	0.45487	.	.	ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651	T;T	0.56611	0.45;0.46	5.63	5.63	0.86233	.	0.365667	0.33309	N	0.005051	T	0.43700	0.1259	M	0.74389	2.26	0.46131	D	0.998882	B;B	0.20164	0.042;0.042	B;B	0.24155	0.051;0.041	T	0.43180	-0.9407	10	0.20046	T	0.44	-1.6722	19.6728	0.95916	0.0:0.0:1.0:0.0	.	260;260	B3KQI8;P21589	.;5NTD_HUMAN	T	36;260;260	ENSP00000257770:A260T;ENSP00000358665:A260T	ENSP00000257770:A260T	A	+	1	0	NT5E	86251698	0.995000	0.38212	0.974000	0.42286	0.996000	0.88848	7.478000	0.81082	2.646000	0.89796	0.462000	0.41574	GCT		0.502	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1				9	55	0	0	0	0.006214	0	9	55		
FOXO3	2309	broad.mit.edu	37	6	108984897	108984897	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:108984897G>A	ENST00000343882.6	+	3	1165	c.861G>A	c.(859-861)caG>caA	p.Q287Q	FOXO3_ENST00000406360.1_Silent_p.Q287Q|FOXO3_ENST00000540898.1_Silent_p.Q67Q	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	287					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|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 translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GTCCCTCCCAGCTCTCCAAGT	0.597																																						uc003psk.2		NaN																	0				central_nervous_system(4)|lung(2)	6						c.(859-861)CAG>CAA		forkhead box O3A							21.0	24.0	23.0					6																	108984897		2202	4298	6500	SO:0001819	synonymous_variant	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|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 factor binding	g.chr6:108984897G>A	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.861G>A	6.37:g.108984897G>A						FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.Q287Q|FOXO3_uc011ean.1_Silent_p.Q67Q|FOXO3_uc010kdj.1_Silent_p.Q67Q	p.Q287Q	NM_201559	NP_963853	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	3	1177	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	287					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	c.861G>A	CCDS5068.1																																																																																				0.597	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2				12	18	0	0	0	0.006122	0	12	18		
SESN1	27244	broad.mit.edu	37	6	109308772	109308772	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:109308772C>G	ENST00000356644.7	-	10	1548	c.1454G>C	c.(1453-1455)aGa>aCa	p.R485T	SESN1_ENST00000302071.2_Missense_Mutation_p.R419T|SESN1_ENST00000436639.2_Missense_Mutation_p.R544T	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	485					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGTAATGGCTCTCAGAGCATA	0.398																																						uc003pst.3		NaN																	0				ovary(1)	1						c.(1453-1455)AGA>ACA		sestrin 1							130.0	119.0	123.0					6																	109308772		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109308772C>G	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.1454G>C	6.37:g.109308772C>G	ENSP00000349061:p.Arg485Thr					SESN1_uc003psu.2_Missense_Mutation_p.R544T	p.R485T	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	10	1546	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	485					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.1454G>C	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612605	0.87258	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.27557	1.66;1.66;1.66	6.03	6.03	0.97812	.	0.040403	0.85682	D	0.000000	T	0.61311	0.2337	M	0.89601	3.045	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	T	0.67604	-0.5628	10	0.87932	D	0	-12.6926	20.5666	0.99351	0.0:1.0:0.0:0.0	.	544;485	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	T	544;419;485	ENSP00000393762:R544T;ENSP00000306734:R419T;ENSP00000349061:R485T	ENSP00000306734:R419T	R	-	2	0	SESN1	109415465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.854000	0.98071	0.655000	0.94253	AGA		0.398	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4		NM_014454		20	55	0	0	0	0.00632	0	20	55		
COL10A1	1300	broad.mit.edu	37	6	116442382	116442382	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:116442382C>T	ENST00000327673.4	-	2	1304	c.897G>A	c.(895-897)ggG>ggA	p.G299G	COL10A1_ENST00000243222.4_Silent_p.G299G|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Silent_p.F12F			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	299	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		AGCCTGGTTTCCCAAAGCCAG	0.642																																						uc003pwm.2		NaN																	0				central_nervous_system(1)	1						c.(895-897)GGG>GGA		type X collagen alpha 1 precursor							28.0	31.0	30.0					6																	116442382		2191	4288	6479	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442382C>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.897G>A	6.37:g.116442382C>T						NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	p.G299G	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	3	993	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	299			Triple-helical region.		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.897G>A	CCDS5105.1																																																																																				0.642	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1				8	27	0	0	0	0.004482	0	8	27		
HDDC2	51020	broad.mit.edu	37	6	125621706	125621706	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:125621706C>T	ENST00000398153.2	-	2	226	c.184G>A	c.(184-186)Gat>Aat	p.D62N	HDDC2_ENST00000608295.1_Missense_Mutation_p.D62N|HDDC2_ENST00000608284.1_Missense_Mutation_p.D62N|HDDC2_ENST00000368377.4_Missense_Mutation_p.D62N	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	62	HD.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		AGACGGTCATCTTTGATCACC	0.498																																						uc003qaa.1		NaN																	0					0						c.(184-186)GAT>AAT		HD domain containing 2							100.0	106.0	104.0					6																	125621706		1993	4168	6161	SO:0001583	missense	51020						metal ion binding|phosphoric diester hydrolase activity	g.chr6:125621706C>T	AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.184G>A	6.37:g.125621706C>T	ENSP00000381220:p.Asp62Asn					HDDC2_uc003qab.1_RNA	p.D62N	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)	2	388	-			62			HD.		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	ENST00000398153.2	37	c.184G>A	CCDS43503.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444946	0.96187	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.43294	0.95;0.95;0.95	5.68	4.81	0.61882	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	L	0.56340	1.77	0.80722	D	1	B	0.31581	0.329	B	0.32533	0.147	T	0.10706	-1.0618	10	0.46703	T	0.11	.	13.5327	0.61631	0.0:0.9237:0.0:0.0763	.	62	Q7Z4H3	HDDC2_HUMAN	N	62	ENSP00000316242:D62N;ENSP00000381220:D62N;ENSP00000357361:D62N	ENSP00000316242:D62N	D	-	1	0	HDDC2	125663405	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	7.361000	0.79497	1.405000	0.46838	0.655000	0.94253	GAT		0.498	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472493.1		NM_016063		15	61	0	0	0	0.028581	0	15	61		
FNDC1	84624	broad.mit.edu	37	6	159653433	159653433	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:159653433C>G	ENST00000297267.9	+	11	2089	c.1889C>G	c.(1888-1890)tCt>tGt	p.S630C	FNDC1_ENST00000340366.6_Missense_Mutation_p.S567C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	630					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGGGCACCTCTCATCGTCCT	0.667																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(1888-1890)TCT>TGT		fibronectin type III domain containing 1							35.0	40.0	38.0					6																	159653433		2064	4200	6264	SO:0001583	missense	84624					extracellular region		g.chr6:159653433C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1889C>G	6.37:g.159653433C>G	ENSP00000297267:p.Ser630Cys					FNDC1_uc010kjw.1_Missense_Mutation_p.S515C	p.S630C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2089	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	630					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1889C>G	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694144	0.48202	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09163	3.01;3.85	4.37	4.37	0.52481	.	1.668430	0.03476	N	0.214365	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	1	D;D	0.61697	0.99;0.983	P;P	0.56474	0.799;0.635	T	0.52975	-0.8503	10	0.72032	D	0.01	.	13.8451	0.63463	0.0:1.0:0.0:0.0	.	567;630	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	C	630;567	ENSP00000297267:S630C;ENSP00000342460:S567C	ENSP00000297267:S630C	S	+	2	0	FNDC1	159573423	0.001000	0.12720	0.000000	0.03702	0.278000	0.26855	1.146000	0.31589	1.982000	0.57802	0.655000	0.94253	TCT		0.667	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		12	96	0	0	0	0.006122	0	12	96		
WDR27	253769	broad.mit.edu	37	6	170013745	170013745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:170013745G>A	ENST00000448612.1	-	22	2340	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	WDR27_ENST00000333572.6_Missense_Mutation_p.S744L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.S617L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	714						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GGTTGTAAATGATGAACCCTA	0.423																																						uc003qwx.2		NaN																	0				pancreas(1)	1						c.(2230-2232)TCA>TTA		RecName: Full=WD repeat-containing protein 27;							70.0	69.0	70.0					6																	170013745		1868	4111	5979	SO:0001583	missense	253769							g.chr6:170013745G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2231C>T	6.37:g.170013745G>A	ENSP00000416289:p.Ser744Leu					WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Missense_Mutation_p.S744L|WDR27_uc003qwy.2_Missense_Mutation_p.S617L	p.S744L			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	22	2751	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	714			WD 8.		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.2231C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203296	0.58234	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.38240	1.79;1.15;1.7	4.88	4.01	0.46588	.	1.117080	0.06928	N	0.810584	T	0.26376	0.0644	N	0.16166	0.38	0.28015	N	0.934761	P;D;P	0.71674	0.773;0.998;0.822	B;D;B	0.66351	0.138;0.943;0.315	T	0.36261	-0.9755	10	0.45353	T	0.12	-0.3203	11.1924	0.48693	0.092:0.0:0.908:0.0	.	744;617;744	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	L	744;744;617	ENSP00000416289:S744L;ENSP00000330265:S744L;ENSP00000397869:S617L	ENSP00000330265:S744L	S	-	2	0	WDR27	169755670	0.748000	0.28294	0.001000	0.08648	0.027000	0.11550	3.148000	0.50647	1.174000	0.42811	0.585000	0.79938	TCA		0.423	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1		NM_182552		4	24	0	0	0	0.014758	0	4	24		
AMZ1	155185	broad.mit.edu	37	7	2749415	2749415	+	Missense_Mutation	SNP	C	C	A	rs558685244		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:2749415C>A	ENST00000312371.4	+	6	1281	c.913C>A	c.(913-915)Cat>Aat	p.H305N	AMZ1_ENST00000489665.1_3'UTR|AMZ1_ENST00000407112.1_Missense_Mutation_p.A248E	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	305							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GAAGCTGCAGCATGTCCTGGG	0.701											OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003smr.1		NaN																	0					0						c.(913-915)CAT>AAT		archaelysin family metallopeptidase 1							47.0	40.0	42.0					7																	2749415		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2749415C>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.913C>A	7.37:g.2749415C>A	ENSP00000308149:p.His305Asn		OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	605	AMZ1_uc003sms.1_Missense_Mutation_p.A248E|AMZ1_uc011jwa.1_Missense_Mutation_p.H54N	p.H305N	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	6	1274	+		Ovarian(82;0.0779)	305					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.913C>A	CCDS34589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.56|11.56	1.675829|1.675829	0.29783|0.29783	.|.	.|.	ENSG00000174945|ENSG00000174945	ENST00000407112|ENST00000312371	T|T	0.37584|0.40756	1.19|1.02	4.87|4.87	2.76|2.76	0.32466|0.32466	.|.	.|0.430726	.|0.23787	.|N	.|0.044574	T|T	0.30696|0.30696	0.0773|0.0773	L|L	0.39898|0.39898	1.24|1.24	0.21445|0.21445	N|N	0.99969|0.99969	B|P	0.24368|0.41748	0.102|0.761	B|B	0.24701|0.42738	0.055|0.396	T|T	0.07139|0.07139	-1.0788|-1.0788	9|10	0.11794|0.28530	T|T	0.64|0.3	-17.5574|-17.5574	4.0718|4.0718	0.09885|0.09885	0.1777:0.5341:0.0:0.2882|0.1777:0.5341:0.0:0.2882	.|.	248|305	B3KRS0|Q400G9	.|AMZ1_HUMAN	E|N	248|305	ENSP00000386020:A248E|ENSP00000308149:H305N	ENSP00000386020:A248E|ENSP00000308149:H305N	A|H	+|+	2|1	0|0	AMZ1|AMZ1	2715941|2715941	0.081000|0.081000	0.21417|0.21417	0.958000|0.958000	0.39756|0.39756	0.247000|0.247000	0.25773|0.25773	0.226000|0.226000	0.17776|0.17776	1.059000|1.059000	0.40554|0.40554	0.462000|0.462000	0.41574|0.41574	GCA|CAT		0.701	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1		NM_133463		15	31	1	0	2.4624e-09	0.008871	2.59031e-09	15	31		
PLEKHA8	84725	broad.mit.edu	37	7	30094402	30094402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:30094402G>A	ENST00000449726.1	+	8	1224	c.874G>A	c.(874-876)Gac>Aac	p.D292N	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D292N|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D292N|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D292N	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	292					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTCTGGATCAGACTCAAGTTG	0.383																																						uc003tam.1		NaN																	0				breast(3)|ovary(1)	4						c.(874-876)GAC>AAC		pleckstrin homology domain containing, family A							151.0	145.0	147.0					7																	30094402		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094402G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.874G>A	7.37:g.30094402G>A	ENSP00000397947:p.Asp292Asn					PLEKHA8_uc003tao.2_Missense_Mutation_p.D176N|PLEKHA8_uc003tap.1_Missense_Mutation_p.D292N|PLEKHA8_uc003tan.2_Missense_Mutation_p.D292N	p.D292N	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			8	965	+			292					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.874G>A	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594363	0.28445	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.63	-5.84	0.02318	.	1.628700	0.02758	N	0.118316	T	0.28200	0.0696	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.14559	-1.0468	9	0.30078	T	0.28	-13.1573	7.6484	0.28334	0.5405:0.2052:0.2543:0.0	.	292;292;292;292	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	N	292;292;292;292;318	.	ENSP00000258679:D292N	D	+	1	0	PLEKHA8	30060927	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-1.792000	0.01756	-1.153000	0.02829	0.655000	0.94253	GAC		0.383	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032639		22	79	0	0	0	0.021523	0	22	79		
MYO1G	64005	broad.mit.edu	37	7	45015119	45015119	+	Silent	SNP	C	C	T	rs571155365		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:45015119C>T	ENST00000258787.7	-	4	664	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	176	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GTCCTCCGATCGGGTCCCCCT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		20450	0.0		0.0	False		,,,				2504	0.001					uc003tmh.2		NaN																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(526-528)CCG>CCA		myosin IG							119.0	115.0	116.0					7																	45015119		2203	4300	6503	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45015119C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.528G>A	7.37:g.45015119C>T						MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Silent_p.P61P|MYO1G_uc003tmi.1_Silent_p.P88P|MYO1G_uc003tmj.2_5'UTR	p.P176P	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			4	672	-			176			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.528G>A	CCDS34629.1																																																																																				0.607	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2				16	28	0	0	0	0.01892	0	16	28		
EPHB4	2050	broad.mit.edu	37	7	100417263	100417263	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:100417263C>G	ENST00000358173.3	-	6	1681	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q	EPHB4_ENST00000360620.3_Missense_Mutation_p.E405Q|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGTGACCTCAAAGGTATAG	0.622																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1		NaN																	0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(1213-1215)GAG>CAG		EPH receptor B4 precursor							82.0	74.0	77.0					7																	100417263		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100417263C>G	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1213G>C	7.37:g.100417263C>G	ENSP00000350896:p.Glu405Gln					EPHB4_uc003uwm.1_Missense_Mutation_p.E312Q|EPHB4_uc010lhj.1_Missense_Mutation_p.E405Q|EPHB4_uc011kkf.1_Missense_Mutation_p.E405Q|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.E405Q	p.E405Q	NM_004444	NP_004435	P54760	EPHB4_HUMAN			6	1704	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		405			Extracellular (Potential).|Fibronectin type-III 1.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1213G>C	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161445	0.38119	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.57436	0.4;0.4	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000077	T	0.46927	0.1418	L	0.44542	1.39	0.19300	N	0.999978	B;B;B;P	0.36483	0.166;0.288;0.166;0.555	B;B;B;B	0.38225	0.056;0.1;0.092;0.268	T	0.49661	-0.8916	10	0.48119	T	0.1	.	12.5119	0.56009	0.0:0.8318:0.1682:0.0	.	405;405;405;405	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	Q	405	ENSP00000353833:E405Q;ENSP00000350896:E405Q	ENSP00000350896:E405Q	E	-	1	0	EPHB4	100255199	0.979000	0.34478	0.930000	0.37139	0.725000	0.41563	2.450000	0.44943	2.563000	0.86464	0.655000	0.94253	GAG		0.622	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1		NM_004444		13	146	0	0	0	0.024245	0	13	146		
RELN	5649	broad.mit.edu	37	7	103202301	103202301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:103202301C>T	ENST00000428762.1	-	35	5469	c.5310G>A	c.(5308-5310)tgG>tgA	p.W1770*	RELN_ENST00000343529.5_Nonsense_Mutation_p.W1770*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W1770*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1770	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGCACATCCAAGGGCACC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5308-5310)TGG>TGA		reelin isoform a							101.0	88.0	93.0					7																	103202301		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202301C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5310G>A	7.37:g.103202301C>T	ENSP00000392423:p.Trp1770*					RELN_uc010liz.2_Nonsense_Mutation_p.W1770*	p.W1770*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5470	-			1770			EGF-like 4.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.5310G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	47	13.621541	0.99753	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	.	.	.	X	1770	.	ENSP00000345694:W1770X	W	-	3	0	RELN	102989537	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.280000	0.78610	2.744000	0.94065	0.563000	0.77884	TGG		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		30	48	0	0	0	0.007835	0	30	48		
IFRD1	3475	broad.mit.edu	37	7	112096991	112096991	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:112096991C>A	ENST00000403825.3	+	4	568	c.307C>A	c.(307-309)Ctt>Att	p.L103I	IFRD1_ENST00000429071.1_Missense_Mutation_p.L103I|IFRD1_ENST00000005558.4_Missense_Mutation_p.L103I|IFRD1_ENST00000535603.1_Missense_Mutation_p.L53I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	103					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GCAAGCAGCTCTTGAAGGTAT	0.338																																						uc003vgh.2		NaN																	0				kidney(1)|central_nervous_system(1)	2						c.(307-309)CTT>ATT		interferon-related developmental regulator 1							93.0	94.0	93.0					7																	112096991		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112096991C>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.307C>A	7.37:g.112096991C>A	ENSP00000384477:p.Leu103Ile					IFRD1_uc011kmn.1_Missense_Mutation_p.L53I|IFRD1_uc003vgi.2_Missense_Mutation_p.L103I|IFRD1_uc003vgj.2_Missense_Mutation_p.L103I|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.L53I	p.L103I	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN			5	750	+			103					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.307C>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142091	0.94560	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T;T;T	0.72394	-0.25;-0.25;-0.65;1.18;-0.25	5.45	5.45	0.79879	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	M	0.76727	2.345	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.993	D	0.85719	0.1324	10	0.72032	D	0.01	-13.0116	19.6181	0.95643	0.0:1.0:0.0:0.0	.	103;103	C9JA65;O00458	.;IFRD1_HUMAN	I	103;103;103;53;53;53	ENSP00000005558:L103I;ENSP00000384477:L103I;ENSP00000437250:L53I;ENSP00000402177:L53I;ENSP00000439188:L53I	ENSP00000005558:L103I	L	+	1	0	IFRD1	111884227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.706000	0.92434	0.591000	0.81541	CTT		0.338	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1		NM_001550		3	39	1	0	0.00024832	0.009096	0.000257871	3	39		
FLNC	2318	broad.mit.edu	37	7	128488646	128488646	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:128488646G>C	ENST00000325888.8	+	27	4873	c.4612G>C	c.(4612-4614)Gat>Cat	p.D1538H	FLNC_ENST00000346177.6_Missense_Mutation_p.D1538H|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1538					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCAGCTCATGATGCCAGCAA	0.642																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4612-4614)GAT>CAT		gamma filamin isoform a							195.0	204.0	201.0					7																	128488646		2040	4217	6257	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488646G>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4612G>C	7.37:g.128488646G>C	ENSP00000327145:p.Asp1538His					FLNC_uc003voa.3_Missense_Mutation_p.D1538H	p.D1538H	NM_001458	NP_001449	Q14315	FLNC_HUMAN			27	4821	+			1538			Filamin 14.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4612G>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426776	0.83667	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88277	-2.36;-2.36	5.09	5.09	0.68999	Immunoglobulin E-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.96623	0.9461	10	0.87932	D	0	.	18.8541	0.92244	0.0:0.0:1.0:0.0	.	1538;1538	Q14315-2;Q14315	.;FLNC_HUMAN	H	1538	ENSP00000327145:D1538H;ENSP00000344002:D1538H	ENSP00000327145:D1538H	D	+	1	0	FLNC	128275882	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	9.745000	0.98856	2.513000	0.84729	0.655000	0.94253	GAT		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				54	254	0	0	0	0.01441	0	54	254		
ZNF425	155054	broad.mit.edu	37	7	148801424	148801424	+	Silent	SNP	G	G	A	rs373528690		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:148801424G>A	ENST00000378061.2	-	4	1671	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	513					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGTGCTGCGTGAGCCGCGACT	0.637																																						uc003wfj.2		NaN																	0				breast(2)|ovary(1)	3						c.(1537-1539)CTC>CTT		zinc finger protein 425		G		0,4406		0,0,2203	47.0	38.0	41.0		1539	-0.4	0.0	7		41	1,8599		0,1,4299	no	coding-synonymous	ZNF425	NM_001001661.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		513/753	148801424	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801424G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1539C>T	7.37:g.148801424G>A							p.L513L	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1612	-	Melanoma(164;0.15)		513			C2H2-type 11.		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1539C>T	CCDS34773.1																																																																																				0.637	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140		9	33	0	0	0	0.016723	0	9	33		
KMT2C	58508	broad.mit.edu	37	7	151945127	151945127	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:151945127G>C	ENST00000262189.6	-	14	2610	c.2392C>G	c.(2392-2394)Cat>Gat	p.H798D	KMT2C_ENST00000355193.2_Missense_Mutation_p.H798D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	798					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGTAATTATGCAGCATGTCA	0.443																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2392-2394)CAT>GAT		myeloid/lymphoid or mixed-lineage leukemia 3							531.0	478.0	496.0					7																	151945127		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945127G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2392C>G	7.37:g.151945127G>C	ENSP00000262189:p.His798Asp						p.H798D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2611	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	798					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2392C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275194	0.40194	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83992	-1.78;-1.79	5.68	5.68	0.88126	.	0.324438	0.22047	N	0.065367	T	0.74160	0.3680	L	0.29908	0.895	0.80722	D	1	P	0.42827	0.791	B	0.32677	0.15	T	0.75377	-0.3339	10	0.37606	T	0.19	.	19.8003	0.96504	0.0:0.0:1.0:0.0	.	798	Q8NEZ4	MLL3_HUMAN	D	798	ENSP00000262189:H798D;ENSP00000347325:H798D	ENSP00000262189:H798D	H	-	1	0	MLL3	151576060	1.000000	0.71417	0.964000	0.40570	0.353000	0.29299	5.737000	0.68606	2.672000	0.90937	0.650000	0.86243	CAT		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				25	552	0	0	0	0.019004	0	25	552		
IKBKB	3551	broad.mit.edu	37	8	42183487	42183487	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:42183487G>C	ENST00000520810.1	+	20	2172		c.e20-1		IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000379708.3_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTGTCCCCTAGAGCAAGGTCC	0.522																																						uc003xow.1		NaN																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.e20-1		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						124.0	119.0	121.0					8																	42183487		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42183487G>C	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1987-1G>C	8.37:g.42183487G>C						IKBKB_uc010lxj.1_Splice_Site_p.S440_splice|IKBKB_uc003xox.1_Splice_Site_p.S384_splice|IKBKB_uc011lcp.1_Splice_Site|IKBKB_uc011lcq.1_Splice_Site_p.S661_splice|IKBKB_uc010lxi.1_Splice_Site|IKBKB_uc011lcr.1_Splice_Site_p.S604_splice	p.S663_splice	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		20	2164	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37	c.1987_splice	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812750	0.50527	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8907	0.92399	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42302644	1.000000	0.71417	0.997000	0.53966	0.509000	0.34042	7.664000	0.83830	2.640000	0.89533	0.462000	0.41574	.		0.522	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			Intron	44	157	0	0	0	0.01441	0	44	157		
LRRCC1	85444	broad.mit.edu	37	8	86050700	86050700	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:86050700G>C	ENST00000360375.3	+	17	2979	c.2830G>C	c.(2830-2832)Gaa>Caa	p.E944Q	LRRCC1_ENST00000414626.2_Missense_Mutation_p.E924Q	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	944					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						CAAAAGTATTGAACTACAAAA	0.333																																						uc003ycw.2		NaN																	0					0						c.(2830-2832)GAA>CAA		sodium channel associated protein 2 isoform a							59.0	62.0	61.0					8																	86050700		1830	4076	5906	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86050700G>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.2830G>C	8.37:g.86050700G>C	ENSP00000353538:p.Glu944Gln					LRRCC1_uc003ycx.2_Missense_Mutation_p.E851Q|LRRCC1_uc003ycy.2_Missense_Mutation_p.E924Q	p.E944Q	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			17	2984	+			944					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2830G>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117481	0.20877	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.30182	1.54;1.54	5.28	4.35	0.52113	.	0.000000	0.36519	N	0.002541	T	0.21145	0.0509	L	0.32530	0.975	0.34553	D	0.711572	B;B;B	0.29378	0.243;0.05;0.098	B;B;B	0.26310	0.068;0.029;0.032	T	0.17837	-1.0356	10	0.15499	T	0.54	-14.3989	12.4774	0.55823	0.0:0.3835:0.6165:0.0	.	924;851;944	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	Q	944;924	ENSP00000353538:E944Q;ENSP00000394695:E924Q	ENSP00000353538:E944Q	E	+	1	0	LRRCC1	86237952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.605000	0.61119	2.622000	0.88805	0.650000	0.86243	GAA		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402		13	20	0	0	0	0.028581	0	13	20		
ESRP1	54845	broad.mit.edu	37	8	95655543	95655543	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:95655543G>A	ENST00000433389.2	+	3	464	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ESRP1_ENST00000358397.5_Missense_Mutation_p.V92M|ESRP1_ENST00000423620.2_Missense_Mutation_p.V92M|ESRP1_ENST00000454170.2_Missense_Mutation_p.V92M	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	92					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TAACCAGTCAGTGAGCAATGA	0.453																																						uc003ygq.3		NaN																ESRP1/RAF1(4)	0				prostate(4)	4						c.(274-276)GTG>ATG		RNA binding motif protein 35A isoform 1							105.0	102.0	103.0					8																	95655543		1968	4165	6133	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95655543G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.274G>A	8.37:g.95655543G>A	ENSP00000405738:p.Val92Met					ESRP1_uc003ygr.3_Missense_Mutation_p.V92M|ESRP1_uc003ygs.3_Missense_Mutation_p.V92M|ESRP1_uc003ygt.3_Missense_Mutation_p.V92M|ESRP1_uc003ygu.3_Missense_Mutation_p.V92M|ESRP1_uc003ygv.2_5'Flank|ESRP1_uc003ygw.2_5'Flank	p.V92M	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			3	457	+			92					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.274G>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125891	0.77436	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.89	4.99	0.66335	Ribonuclease H-like (1);	0.061555	0.64402	D	0.000003	T	0.56848	0.2013	L	0.47190	1.495	0.44366	D	0.997262	D;P;P;D;D	0.58970	0.973;0.906;0.941;0.965;0.984	D;P;P;P;P	0.63957	0.92;0.817;0.691;0.837;0.898	T	0.57814	-0.7746	10	0.72032	D	0.01	-15.1102	17.1644	0.86811	0.0:0.1256:0.8743:0.0	.	92;92;92;92;92	Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;ESRP1_HUMAN	M	92	ENSP00000407349:V92M;ENSP00000405738:V92M;ENSP00000351168:V92M;ENSP00000402766:V92M	ENSP00000351168:V92M	V	+	1	0	ESRP1	95724719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.902000	0.56310	2.793000	0.96121	0.655000	0.94253	GTG		0.453	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1		NM_017697		4	87	0	0	0	0.014758	0	4	87		
PLEKHF2	79666	broad.mit.edu	37	8	96166849	96166849	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:96166849C>T	ENST00000315367.3	+	2	818	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.L193F	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	193					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GAGATTTCTTCTTCCCAGCCA	0.507																																						uc003yhn.1		NaN																	0				ovary(2)	2						c.(577-579)CTT>TTT		phafin 2							96.0	91.0	93.0					8																	96166849		2203	4300	6503	SO:0001583	missense	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166849C>T	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.577C>T	8.37:g.96166849C>T	ENSP00000322373:p.Leu193Phe						p.L193F	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN			2	824	+	Breast(36;3.18e-05)		193			FYVE-type.			Missense_Mutation	SNP	ENST00000315367.3	37	c.577C>T	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881326	0.72294	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.51817	0.69;0.69	6.07	6.07	0.98685	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.90425	3.115	0.80722	D	1	D	0.55605	0.972	P	0.57620	0.824	T	0.72469	-0.4284	10	0.56958	D	0.05	-19.2608	9.5526	0.39319	0.1431:0.7869:0.0:0.07	.	193	Q9H8W4	PKHF2_HUMAN	F	193	ENSP00000322373:L193F;ENSP00000427792:L193F	ENSP00000322373:L193F	L	+	1	0	PLEKHF2	96236025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.537000	0.60643	2.890000	0.99128	0.585000	0.79938	CTT		0.507	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1		NM_024613		51	98	0	0	0	0.01441	0	51	98		
RIMS2	9699	broad.mit.edu	37	8	104897909	104897909	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:104897909G>A	ENST00000436393.2	+	2	657	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.R361Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R169Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R169Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	392	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAGTGTCCCGAGCACGGCAT	0.478										HNSCC(12;0.0054)																												uc003yls.2		NaN																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(415-417)CGA>CAA		regulating synaptic membrane exocytosis 2							94.0	94.0	94.0					8																	104897909		2003	4155	6158	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897909G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.416G>A	8.37:g.104897909G>A	ENSP00000390665:p.Arg139Gln	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.R361Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R169Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R169Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R169Q	p.R139Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	657	+			392					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.416G>A		.	.	.	.	.	.	.	.	.	.	G	24.4	4.529197	0.85706	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.32	5.32	0.75619	.	.	.	.	.	T	0.66066	0.2752	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.998;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.837;0.992;0.999;0.996;0.998	T	0.69038	-0.5251	9	0.72032	D	0.01	.	18.9862	0.92771	0.0:0.0:1.0:0.0	.	392;139;169;169;361	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	361;392;361;392;169;169;169;169;139	ENSP00000427018:R361Q;ENSP00000384892:R361Q;ENSP00000425205:R169Q;ENSP00000262231:R169Q;ENSP00000423559:R169Q;ENSP00000386228:R169Q;ENSP00000390665:R139Q	ENSP00000262231:R169Q	R	+	2	0	RIMS2	104967085	1.000000	0.71417	0.012000	0.15200	0.805000	0.45488	9.615000	0.98356	2.479000	0.83701	0.467000	0.42956	CGA		0.478	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117		12	21	0	0	0	0.024245	0	12	21		
CSMD3	114788	broad.mit.edu	37	8	113241090	113241090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:113241090G>T	ENST00000297405.5	-	70	11103	c.10859C>A	c.(10858-10860)tCa>tAa	p.S3620*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3550*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3580*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3451*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3620						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTGATTTGAAGAATTTGA	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10858-10860)TCA>TAA		CUB and Sushi multiple domains 3 isoform 1							73.0	74.0	74.0					8																	113241090		2203	4298	6501	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113241090G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10859C>A	8.37:g.113241090G>T	ENSP00000297405:p.Ser3620*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.S2822*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S3580*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S3451*	p.S3620*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			70	11018	-			3620			Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.10859C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	53	20.253973	0.99928	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.63	4.62	0.57501	.	0.415204	0.21960	N	0.066608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.501	0.55955	0.0982:0.0:0.9018:0.0	.	.	.	.	X	3580;3620;2890;3451;3550	.	ENSP00000297405:S3620X	S	-	2	0	CSMD3	113310266	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.474000	0.73578	1.247000	0.43917	0.655000	0.94253	TCA		0.279	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		15	18	1	0	1.20859e-23	0.007413	1.32292e-23	15	18		
ENPP2	5168	broad.mit.edu	37	8	120620215	120620215	+	Silent	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:120620215T>C	ENST00000075322.6	-	9	838	c.780A>G	c.(778-780)ctA>ctG	p.L260L	ENPP2_ENST00000259486.6_Silent_p.L260L|ENPP2_ENST00000427067.2_Silent_p.L256L|ENPP2_ENST00000522826.1_Silent_p.L260L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	260					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGTAATCCATAGCTAATGAG	0.318																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(778-780)CTA>CTG		autotaxin isoform 2 preproprotein							68.0	65.0	66.0					8																	120620215		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120620215T>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.780A>G	8.37:g.120620215T>C						ENPP2_uc003yos.1_Silent_p.L260L|ENPP2_uc010mdd.1_Silent_p.L260L	p.L260L	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		9	866	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		260					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.780A>G	CCDS34936.1																																																																																				0.318	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1				15	12	0	0	0	0.006122	0	15	12		
MAPK15	225689	broad.mit.edu	37	8	144803789	144803789	+	Silent	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:144803789G>T	ENST00000338033.4	+	12	1394	c.1275G>T	c.(1273-1275)ggG>ggT	p.G425G	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	425					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CTCTCCTAGGGAATGGGGAAA	0.662																																						uc003yzj.2		NaN																	0				lung(2)	2						c.(1273-1275)GGG>GGT		mitogen-activated protein kinase 15							78.0	90.0	86.0					8																	144803789		1911	4119	6030	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803789G>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1275G>T	8.37:g.144803789G>T							p.G425G	NM_139021	NP_620590	Q8TD08	MK15_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)		12	1316	+	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)		425					Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.1275G>T	CCDS6409.2																																																																																				0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1		NM_139021		60	64	1	0	2.41358e-16	0.01441	2.59513e-16	60	64		
SLC1A1	6505	broad.mit.edu	37	9	4574009	4574009	+	Silent	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr9:4574009G>C	ENST00000262352.3	+	8	1106	c.870G>C	c.(868-870)ctG>ctC	p.L290L		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	290					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CCACAGTCCTGACTGGGTATG	0.458																																						uc003zij.1		NaN																	0					0						c.(868-870)CTG>CTC		solute carrier family 1, member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						113.0	114.0	113.0					9																	4574009		2203	4300	6503	SO:0001819	synonymous_variant	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4574009G>C		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.870G>C	9.37:g.4574009G>C						C9orf68_uc003zik.2_Intron	p.L290L	NM_004170	NP_004161	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	8	1106	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	290			Helical; (Potential).		O75587|Q5VZ24|Q8N199|Q9UEW2	Silent	SNP	ENST00000262352.3	37	c.870G>C	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109351	0.20714	.	.	ENSG00000106688	ENST00000422398	.	.	.	5.58	2.58	0.30949	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51204	-0.8735	4	.	.	.	.	6.6179	0.22786	0.1259:0.5516:0.3225:0.0	.	.	.	.	H	53	.	.	D	+	1	0	SLC1A1	4564009	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	0.488000	0.22371	1.484000	0.48361	0.655000	0.94253	GAC		0.458	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1				44	47	0	0	0	0.011902	0	44	47		
C9orf43	257169	broad.mit.edu	37	9	116190476	116190476	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr9:116190476G>C	ENST00000288462.4	+	12	1526	c.1080G>C	c.(1078-1080)caG>caC	p.Q360H	C9orf43_ENST00000374165.1_Missense_Mutation_p.Q360H	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	360										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGCAGCAGCAGATGGAAAAAG	0.438																																						uc004bho.3		NaN																	0					0						c.(1078-1080)CAG>CAC		hypothetical protein LOC257169							185.0	176.0	179.0					9																	116190476		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116190476G>C	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1080G>C	9.37:g.116190476G>C	ENSP00000288462:p.Gln360His					C9orf43_uc004bhp.2_Missense_Mutation_p.Q360H	p.Q360H	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN			12	1476	+			360						Missense_Mutation	SNP	ENST00000288462.4	37	c.1080G>C	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	4.183	0.032548	0.08101	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.43688	0.94;0.94	4.34	0.773	0.18516	.	1.925830	0.02899	N	0.135166	T	0.39545	0.1082	N	0.19112	0.55	0.09310	N	1	D	0.54207	0.965	P	0.53313	0.723	T	0.22243	-1.0222	10	0.66056	D	0.02	13.5311	3.806	0.08777	0.2832:0.1867:0.5301:0.0	.	360	Q8TAL5	CI043_HUMAN	H	360	ENSP00000363280:Q360H;ENSP00000288462:Q360H	ENSP00000288462:Q360H	Q	+	3	2	C9orf43	115230297	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.503000	0.22610	0.146000	0.19002	-0.192000	0.12808	CAG		0.438	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1		NM_152786		3	127	0	0	0	0.004672	0	3	127		
RBM10	8241	broad.mit.edu	37	X	47045491	47045491	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:47045491G>A	ENST00000377604.3	+	22	3200	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	RBM10_ENST00000345781.6_Missense_Mutation_p.E743K|RBM10_ENST00000329236.7_Missense_Mutation_p.E742K	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	820					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGTGCAGCTGAACGCAGAGA	0.552																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NaN																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(2458-2460)GAA>AAA		RNA binding motif protein 10 isoform 1							50.0	44.0	46.0					X																	47045491		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47045491G>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2458G>A	X.37:g.47045491G>A	ENSP00000366829:p.Glu820Lys					RBM10_uc004dhg.2_Missense_Mutation_p.E742K|RBM10_uc004dhh.2_Missense_Mutation_p.E819K|RBM10_uc010nhq.2_Missense_Mutation_p.E743K|RBM10_uc004dhi.2_Missense_Mutation_p.E885K	p.E820K	NM_005676	NP_005667	P98175	RBM10_HUMAN			22	2837	+			820					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.2458G>A	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347208	0.82022	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.31510	2.12;1.49;1.75	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000004	T	0.53769	0.1817	M	0.86502	2.82	0.58432	D	0.999999	P;P;P;P;P	0.51351	0.873;0.944;0.917;0.827;0.85	B;P;P;B;P	0.52424	0.356;0.698;0.543;0.359;0.477	T	0.62647	-0.6810	10	0.87932	D	0	-15.795	16.2565	0.82519	0.0:0.0:1.0:0.0	.	743;885;819;742;820	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	K	820;742;743	ENSP00000366829:E820K;ENSP00000328848:E742K;ENSP00000329659:E743K	ENSP00000328848:E742K	E	+	1	0	RBM10	46930435	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.529000	0.98049	2.530000	0.85305	0.556000	0.70494	GAA		0.552	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1		NM_005676		16	17	0	0	0	0.007413	0	16	17		
CACNA1F	778	broad.mit.edu	37	X	49071570	49071570	+	Silent	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:49071570G>C	ENST00000376265.2	-	29	3667	c.3606C>G	c.(3604-3606)ctC>ctG	p.L1202L	CACNA1F_ENST00000376251.1_Silent_p.L1137L|CACNA1F_ENST00000323022.5_Silent_p.L1191L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1202					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CAACTGTGTTGAGCAGGATGA	0.552																																						uc004dnb.2		NaN																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(3604-3606)CTC>CTG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						142.0	96.0	112.0					X																	49071570		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071570G>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3606C>G	X.37:g.49071570G>C						CACNA1F_uc010nip.2_Silent_p.L1191L	p.L1202L	NM_005183	NP_005174	O60840	CAC1F_HUMAN			29	3668	-			1202			Helical; Name=S1 of repeat IV; (Potential).|IV.		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.3606C>G	CCDS35253.1																																																																																				0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183		29	29	0	0	0	0.027894	0	29	29		
STAG2	10735	broad.mit.edu	37	X	123185061	123185061	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:123185061C>T	ENST00000371160.1	+	12	1398	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	STAG2_ENST00000354548.5_Missense_Mutation_p.R301W|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.R370W|STAG2_ENST00000371145.3_Missense_Mutation_p.R370W|STAG2_ENST00000371144.3_Missense_Mutation_p.R370W|STAG2_ENST00000218089.9_Missense_Mutation_p.R370W	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	370	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R370G(1)|p.R370W(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTTACCAGTCGGTTCAAGGT	0.294																																						uc004etz.3		NaN																	2	Substitution - Missense(2)		prostate(2)	ovary(4)|skin(1)	5						c.(1108-1110)CGG>TGG		stromal antigen 2 isoform b							31.0	32.0	32.0					X																	123185061		2202	4282	6484	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123185061C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1108C>T	X.37:g.123185061C>T	ENSP00000360202:p.Arg370Trp					STAG2_uc004eua.2_Missense_Mutation_p.R370W|STAG2_uc004eub.2_Missense_Mutation_p.R370W|STAG2_uc004euc.2_Missense_Mutation_p.R370W|STAG2_uc004eud.2_Missense_Mutation_p.R370W|STAG2_uc004eue.2_Missense_Mutation_p.R370W	p.R370W	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			11	1447	+			370			SCD.		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.1108C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831580	0.91036	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.41	5.41	0.78517	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82470	-0.0441	10	0.87932	D	0	-0.8557	18.2181	0.89893	0.0:1.0:0.0:0.0	.	370;370	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	W	370;370;301;370;370;370;370	ENSP00000218089:R370W;ENSP00000397265:R370W;ENSP00000346555:R301W;ENSP00000360202:R370W;ENSP00000360199:R370W;ENSP00000360187:R370W;ENSP00000360186:R370W	ENSP00000218089:R370W	R	+	1	2	STAG2	123012742	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.859000	0.69539	2.240000	0.73641	0.513000	0.50165	CGG		0.294	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		4	5	0	0	0	0.014758	0	4	5		
DNASE1L1	1774	broad.mit.edu	37	X	153640483	153640483	+	5'Flank	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:153640483G>A	ENST00000393638.1	-	0	0				TAZ_ENST00000369776.4_Intron|TAZ_ENST00000351413.4_Missense_Mutation_p.R57Q|TAZ_ENST00000369790.4_Missense_Mutation_p.R57Q|TAZ_ENST00000299328.5_Missense_Mutation_p.R57Q|DNASE1L1_ENST00000369809.1_5'Flank|TAZ_ENST00000350743.4_Missense_Mutation_p.R57Q|TAZ_ENST00000475699.1_Missense_Mutation_p.R57Q	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCGAGAAGCGAGGCCCGGCC	0.662											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fkx.2		NaN																	0					0						c.(169-171)CGA>CAA		tafazzin isoform 1							51.0	37.0	42.0					X																	153640483		2195	4298	6493	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153640483G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153640483G>A	Exception_encountered		OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1757	DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fky.2_Missense_Mutation_p.R57Q|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.R57Q|TAZ_uc004flb.2_Missense_Mutation_p.R57Q|TAZ_uc010nuy.2_Missense_Mutation_p.R75Q|TAZ_uc004flc.3_Intron	p.R57Q	NM_000116	NP_000107	Q16635	TAZ_HUMAN			2	474	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		57					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.170G>A	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912850	0.92178	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.14	3.27	0.37495	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.96586	0.8886	M	0.89030	3	0.51767	D	0.999936	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.985;0.926;0.963;0.959;0.994	D	0.95969	0.8968	10	0.87932	D	0	-4.9413	10.7696	0.46314	0.0:0.2064:0.7936:0.0	.	75;57;57;57;57	A6XNE1;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;TAZ_HUMAN	Q	57;75;57;57;75;57;57;57	ENSP00000358805:R57Q;ENSP00000411182:R75Q;ENSP00000299328:R57Q;ENSP00000338891:R57Q;ENSP00000397388:R75Q;ENSP00000218246:R57Q;ENSP00000398193:R57Q;ENSP00000419854:R57Q	ENSP00000299328:R57Q	R	+	2	0	TAZ	153293677	1.000000	0.71417	0.636000	0.29352	0.887000	0.51463	8.592000	0.90828	0.563000	0.29222	0.436000	0.28706	CGA		0.662	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2				14	6	0	0	0	0.028581	0	14	6		
C11orf63	79864	broad.mit.edu	37	11	122775122	122775123	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:122775122_122775123insA	ENST00000531316.1	+	2	926_927	c.834_835insA	c.(835-837)aaafs	p.K279fs	C11orf63_ENST00000307257.6_Frame_Shift_Ins_p.K279fs|C11orf63_ENST00000227349.2_Frame_Shift_Ins_p.K279fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	279					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AACTTCACAATAAAAAAAGAGG	0.406																																						uc001pym.2		NaN																	0				ovary(3)	3						c.(832-837)AATAAAfs		hypothetical protein LOC79864 isoform 1																																				SO:0001589	frameshift_variant	79864							g.chr11:122775122_122775123insA	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.841dupA	11.37:g.122775129_122775129dupA	ENSP00000431669:p.Lys279fs					C11orf63_uc001pyl.1_Frame_Shift_Ins_p.N278fs	p.N278fs	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	1131_1132	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	278_279					A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Ins	INS	ENST00000531316.1	37	c.834_835insA	CCDS8438.1																																																																																				0.406	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1		NM_024806		86	153	NaN	NaN	NaN	NaN	NaN	86	153	---	---
SOX1	6656	broad.mit.edu	37	13	112722081	112722083	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr13:112722081_112722083delGGC	ENST00000330949.1	+	1	169_171	c.109_111delGGC	c.(109-111)ggcdel	p.G43del		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	43	Poly-Gly.				chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		cggaggcgggggcggcggcggcg	0.778																																						uc001vsb.1		NaN																	0					0						c.(109-111)GGCdel		SRY (sex determining region Y)-box 1				38,64,2450		12,0,14,18,28,1204						-3.4	0.0			3	31,94,5427		3,0,25,8,78,2662	no	codingComplex	SOX1	NM_005986.2		15,0,39,26,106,3866	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2514,3.9969,2.8011				69,158,7877				SO:0001651	inframe_deletion	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722081_112722083delGGC		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.109_111delGGC	13.37:g.112722090_112722092delGGC	ENSP00000330218:p.Gly43del						p.G43del	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	169_171	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	43			Poly-Gly.		Q5W0Q1	In_Frame_Del	DEL	ENST00000330949.1	37	c.109_111delGGC	CCDS9523.1																																																																																				0.778	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3		NM_005986		5	10	NaN	NaN	NaN	NaN	NaN	5	10	---	---
UACA	55075	broad.mit.edu	37	15	70979935	70979935	+	Frame_Shift_Del	DEL	T	T	-	rs147378902		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:70979935delT	ENST00000322954.6	-	7	731	c.546delA	c.(544-546)atafs	p.I182fs	UACA_ENST00000560441.1_Frame_Shift_Del_p.I169fs|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Frame_Shift_Del_p.I169fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	182					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCAGTTGACATATTGTTGGCC	0.428																																						uc002asr.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(544-546)ATAfs		uveal autoantigen with coiled-coil domains and							106.0	100.0	102.0					15																	70979935		2199	4297	6496	SO:0001589	frameshift_variant	55075					cytoskeleton|extracellular region		g.chr15:70979935delT	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.546delA	15.37:g.70979935delT	ENSP00000314556:p.Ile182fs					UACA_uc010uke.1_Intron|UACA_uc002asq.2_Frame_Shift_Del_p.I169fs|UACA_uc010bin.1_Frame_Shift_Del_p.I168fs	p.I182fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			7	650	-			182			ANK 5.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Frame_Shift_Del	DEL	ENST00000322954.6	37	c.546delA	CCDS10235.1																																																																																				0.428	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2				21	96	NaN	NaN	NaN	NaN	NaN	21	96	---	---
GGA3	23163	broad.mit.edu	37	17	73239175	73239175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:73239175delT	ENST00000245541.6	-	6	713	c.497delA	c.(496-498)aacfs	p.N166fs	GGA3_ENST00000537686.1_Intron|GGA3_ENST00000538886.1_Frame_Shift_Del_p.N44fs|GGA3_ENST00000582717.1_Frame_Shift_Del_p.N94fs|GGA3_ENST00000578348.1_Frame_Shift_Del_p.N44fs|GGA3_ENST00000582486.1_Frame_Shift_Del_p.N94fs|GGA3_ENST00000351904.7_Frame_Shift_Del_p.N133fs|GGA3_ENST00000579743.1_5'Flank	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	166	Binds to ARF1 (in long isoform).				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AAAAACAGGGTTTTTGGGACG	0.542																																						uc002jni.1		NaN																	0				ovary(1)|breast(1)	2						c.(496-498)AACfs		ADP-ribosylation factor binding protein 3							181.0	164.0	170.0					17																	73239175		2203	4300	6503	SO:0001589	frameshift_variant	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73239175delT	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.497delA	17.37:g.73239175delT	ENSP00000245541:p.Asn166fs					GGA3_uc002jnj.1_Frame_Shift_Del_p.N133fs|GGA3_uc010wrw.1_Frame_Shift_Del_p.N44fs|GGA3_uc002jnk.1_Frame_Shift_Del_p.N94fs|GGA3_uc010wrx.1_Frame_Shift_Del_p.N44fs|GGA3_uc010wry.1_Frame_Shift_Del_p.N94fs|GGA3_uc010wrz.1_Intron	p.N166fs	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		6	506	-			166			Binds to ARF1 (in long isoform).		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Frame_Shift_Del	DEL	ENST00000245541.6	37	c.497delA	CCDS11717.1																																																																																				0.542	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1		NM_138619		7	303	NaN	NaN	NaN	NaN	NaN	7	303	---	---
HCN2	610	broad.mit.edu	37	19	616296	616296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:616296delC	ENST00000251287.2	+	8	2545	c.2492delC	c.(2491-2493)gccfs	p.A831fs	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	831	Pro-rich.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTCAcggcgcccccggcccc	0.841																																					Melanoma(145;1175 2427 8056 36306)	uc002lpe.2		NaN																	0					0						c.(2491-2493)GCCfs		hyperpolarization activated cyclic							1.0	1.0	1.0					19																	616296		191	310	501	SO:0001589	frameshift_variant	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:616296delC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.2492delC	19.37:g.616296delC	ENSP00000251287:p.Ala831fs						p.A831fs	NM_001194	NP_001185	Q9UL51	HCN2_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)	8	2545	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	831			Pro-rich.|Cytoplasmic (Potential).		O60742|O60743|O75267|Q9UBS2	Frame_Shift_Del	DEL	ENST00000251287.2	37	c.2492delC	CCDS12035.1																																																																																				0.841	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1		NM_001194		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
