#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
ABI2	10152	broad.mit.edu	37	2	204267424	204267427	+	Frame_Shift_Del	DEL	ATGA	ATGA	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204267424_204267427delATGA	ENST00000422511.2	+	9	1091_1094	c.1060_1063delATGA	c.(1060-1065)atgaatfs	p.MN354fs	ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000295851.5_Frame_Shift_Del_p.MN387fs|ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs			Q9NYB9	ABI2_HUMAN	abl-interactor 2	387	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TCAGAATCAGATGAATGGAGGACC	0.407																																						ENST00000422511.2	0.850000	0.520000	7.500000e-01	5.800000e-01	0.660000	0.675619	0.660000	0.670000																										0				15						c.(1060-1065)atgaatfs		abl-interactor 2																																				SO:0001589	frameshift_variant	10152	0	0					g.chr2:204267424_204267427delATGA	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1060_1063delATGA	chr2.hg19:g.204267424_204267427delATGA	ENSP00000396249:p.Met354fs	0					ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000295851.5_Frame_Shift_Del_p.MN387fs|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs|ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs	p.MN354fs			1	2	3	2.064020	Q9NYB9	ABI2_HUMAN		9	1091_1094	+			B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Frame_Shift_Del	DEL	ENST00000422511.2	0	1	hg19	c.1060_1063delATGA		0																																																																																								0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.407	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	1	0	1		2	2		0		0	0	52		52	52	1	1.820000	-20.000000	1	0.310000	NM_005759			65	80		566	574	0		1	1	0	0	0	52	0		1.000000	9.111372e-01	0	3	0	35	0	65	566
RSU1	6251	broad.mit.edu	37	10	16794556	16794556	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:16794556C>T	ENST00000377921.3	-	6	881	c.580G>A	c.(580-582)Gtt>Att	p.V194I	RSU1_ENST00000602389.1_Missense_Mutation_p.V141I|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.V194I			Q15404	RSU1_HUMAN	Ras suppressor protein 1	194					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GGGGGCAGAACGGTGAGGCGG	0.468																																						ENST00000377921.3	0.590000	0.350000	5.300000e-01	4.000000e-01	0.460000	0.472071	0.460000	0.460000																										0				14						c.(580-582)Gtt>Att		Ras suppressor protein 1							110.0	107.0	108.0					10																	16794556		2203	4300	6503	SO:0001583	missense	6251	2	121410	34				g.chr10:16794556C>T	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.580G>A	chr10.hg19:g.16794556C>T	ENSP00000367154:p.Val194Ile	0					RSU1_ENST00000345264.5_Missense_Mutation_p.V194I|RSU1_ENST00000602389.1_Missense_Mutation_p.V141I|RSU1_ENST00000464074.2_5'UTR	p.V194I			0	1	1	1.909855	Q15404	RSU1_HUMAN		6	881	-			A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	1	1	hg19	c.580G>A	CCDS7112.1	0	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212821	0.79352	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.09255	3.0;3.0	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.20610	0.595	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.63703	0.899;0.917	T	0.04017	-1.0984	10	0.42905	T	0.14	-5.5557	18.8996	0.92437	0.0:1.0:0.0:0.0	.	194;194	B0YJ73;Q15404	.;RSU1_HUMAN	I	194;194;141	ENSP00000339521:V194I;ENSP00000367154:V194I	ENSP00000339521:V194I	V	-	1	0	0	RSU1	16834562	16834562	1.000000	0.71417	0.972000	0.41901	0.836000	0.47400	7.456000	0.80751	2.471000	0.83476	0.585000	0.79938	GTT	0.250774		TCGA-HZ-A4BH-01A-11D-A26I-08	0.468	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	1	0	1		2	12	2	1		1	0	101		101	97	1	1.820000	-13.148030	1	0.310000	NM_012425, NM_152724			57	53		668	649	1		1	1		1	0	101	0		1.000000	9.913823e-01	0	41	0	251	0	57	668
ANKRD30A	91074	broad.mit.edu	37	10	37506771	37506771	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:37506771A>G	ENST00000602533.1	+	33	3163	c.3064A>G	c.(3064-3066)Ata>Gta	p.I1022V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1141V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1078					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATACAAGATATAGAATTGAA	0.274																																						ENST00000602533.1	1.000000	0.650000	1	7.800000e-01	0.920000	0.903843	0.920000	1.000000																										0				158						c.(3064-3066)Ata>Gta		ankyrin repeat domain 30A							62.0	62.0	62.0					10																	37506771		1806	4060	5866	SO:0001583	missense	91074	0	0					g.chr10:37506771A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3064A>G	chr10.hg19:g.37506771A>G	ENSP00000473551:p.Ile1022Val	0					ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1141V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V	p.I1022V			0	1	1	1.912229	Q9BXX3	AN30A_HUMAN		33	3163	+			Q5W025	Missense_Mutation	SNP	ENST00000602533.1	1	1	hg19	c.3064A>G		1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.272481	0.00257	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.16457	2.34;2.34	2.78	-5.55	0.02536	2.78	-5.55	0.02536	.	.	.	.	.	T	0.05640	0.0148	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41215	-0.9521	9	0.02654	T	1	.	1.7614	0.02992	0.2387:0.2515:0.3726:0.1371	.	1078	Q9BXX3	AN30A_HUMAN	V	1022;1141	ENSP00000354432:I1022V;ENSP00000363792:I1141V	ENSP00000354432:I1022V	I	+	1	0	0	ANKRD30A	37546777	37546777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.305000	0.02738	-1.298000	0.02348	-0.435000	0.05868	ATA	0.272804		TCGA-HZ-A4BH-01A-11D-A26I-08	0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	1		2	2	2	0		0	0	18		18	18	1	1.820000	-20.000000	1	0.310000	NM_052997			29	29		161	160	1		1	0		0	0	18	0		1.000000	0	0	0	0	1	0	29	161
FRMPD2	143162	broad.mit.edu	37	10	49457187	49457187	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:49457187G>A	ENST00000374201.3	-	3	488	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FRMPD2_ENST00000407470.4_Silent_p.A53A|FRMPD2_ENST00000305531.3_Silent_p.A60A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	62	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAAGCAGGGCTGACCAGG	0.552																																						ENST00000374201.3	1.000000	0.800000	1	9.300000e-01	0.990000	0.976317	0.990000	1.000000																										0				66						c.(184-186)gcC>gcT		FERM and PDZ domain containing 2							53.0	54.0	54.0					10																	49457187		2203	4300	6503	SO:0001819	synonymous_variant	143162	0	0					g.chr10:49457187G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.186C>T	chr10.hg19:g.49457187G>A		0					FRMPD2_ENST00000407470.4_Silent_p.A53A|FRMPD2_ENST00000305531.3_Silent_p.A60A	p.A62A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	0	1	1	1.912229	Q68DX3	FRPD2_HUMAN		3	488	-			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	1	1	hg19	c.186C>T	CCDS31195.1	1																																																																																								0.272804		TCGA-HZ-A4BH-01A-11D-A26I-08	0.552	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	1		2	2	2	0		0	0	77		77	77	1	1.820000	-20.000000	1	0.310000	NM_152428			39	39		179	179	1		1			0	0	77	0		1.000000	0	0	0	0	0	0	39	179
CHAT	1103	broad.mit.edu	37	10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	rs146236256		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:50833616G>A	ENST00000337653.2	+	6	1003	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000395562.2_Missense_Mutation_p.G202S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	284					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)	CCGGCTCCCCGGCCATACCCA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.001					ENST00000337653.2	1.000000	0.640000	1	8.300000e-01	0.990000	0.939377	0.990000	1.000000																										0				56						c.(850-852)Ggc>Agc		choline O-acetyltransferase	Choline(DB00122)|Nicotine(DB00184)	G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	46.0	35.0	38.0		496,604,496,850,496,496,496	5.2	0.8	10	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	56,56,56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	166/631,202/667,166/631,284/749,166/631,166/631,166/631	50833616	1,13005	2203	4300	6503	SO:0001583	missense	1103	10	121400	38				g.chr10:50833616G>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.850G>A	chr10.hg19:g.50833616G>A	ENSP00000337103:p.Gly284Ser	0					CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000395562.2_Missense_Mutation_p.G202S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S	p.G284S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	0	1	1	1.912229	P28329	CLAT_HUMAN		6	1003	+		all_neural(218;0.107)	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	1	1	hg19	c.850G>A	CCDS7232.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486814	0.84854	0.0	1.16E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.975;0.981	D	0.97201	0.9864	10	0.87932	D	0	-30.9801	18.8	0.92013	0.0:0.0:1.0:0.0	.	166;284	F8W8I2;P28329	.;CLAT_HUMAN	S	166;166;166;284;202;166	ENSP00000343486:G166S;ENSP00000345878:G166S;ENSP00000378926:G166S;ENSP00000337103:G284S;ENSP00000378929:G202S;ENSP00000390521:G166S	ENSP00000337103:G284S	G	+	1	0	0	CHAT	50503622	50503622	1.000000	0.71417	0.836000	0.33094	0.196000	0.23810	9.852000	0.99516	2.439000	0.82584	0.411000	0.27672	GGC	0.272804		TCGA-HZ-A4BH-01A-11D-A26I-08	0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	1		2	2	2	0		0	0	26		26	26	1	1.820000	-10.979210	1	0.310000	NM_020549			15	15		71	70	1		1	0		0	0	26	0		0.999916	0	0	0	0	1	0	15	71
GRID1	2894	broad.mit.edu	37	10	87362370	87362370	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:87362370G>A	ENST00000327946.7	-	16	2775	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S468L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	897					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GAGCTCAATCGACGCTGGGGA	0.592										Multiple Myeloma(13;0.14)																												ENST00000327946.7	1.000000	0.800000	1	9.600000e-01	0.990000	0.980450	0.990000	1.000000																										0				106						c.(2689-2691)tCg>tTg		glutamate receptor, ionotropic, delta 1							43.0	38.0	40.0					10																	87362370		2203	4300	6503	SO:0001583	missense	2894	1	121410	25				g.chr10:87362370G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2690C>T	chr10.hg19:g.87362370G>A	ENSP00000330148:p.Ser897Leu	0	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.S468L|RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR	p.S897L	NM_017551.2	NP_060021.1	0	1	1	1.912229	Q9ULK0	GRID1_HUMAN		16	2775	-			B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	1	1	hg19	c.2690C>T	CCDS31236.1	1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708583	0.68615	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.16457	2.59;2.34	5.74	4.84	0.62591	5.74	4.84	0.62591	.	0.047518	0.85682	D	0.000000	T	0.34424	0.0897	L	0.55481	1.735	0.58432	D	0.999998	D	0.64830	0.994	D	0.64042	0.921	T	0.05971	-1.0853	10	0.62326	D	0.03	.	13.749	0.62894	0.0737:0.0:0.9263:0.0	.	897	Q9ULK0	GRID1_HUMAN	L	897;468	ENSP00000330148:S897L;ENSP00000444455:S468L	ENSP00000330148:S897L	S	-	2	0	0	GRID1	87352350	87352350	1.000000	0.71417	0.619000	0.29118	0.608000	0.37181	9.869000	0.99810	1.430000	0.47334	-0.218000	0.12543	TCG	0.272804		TCGA-HZ-A4BH-01A-11D-A26I-08	0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1		2	2	2	0		0	0	26		26	26	1	1.820000	-20.000000	1	0.310000	XM_043613			28	28		120	119	1		1	0		0	0	26	0		1.000000	7.718569e-01	0	0	0	14	0	28	120
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													N|||	6	0.00119808	0.0	0.0	5008	,	,		22333	0.0		0.006	False		,,,				2504	0.0					ENST00000333973.2	1.000000	0.900000	1	9.700000e-01	0.990000	0.988936	0.990000	1.000000																										0				78						c.(457-459)aCg>aTg		olfactory receptor, family 5, subfamily L, member 1							217.0	181.0	193.0					11																	55579400		2200	4296	6496	SO:0001583	missense	219437	218	121410	59				g.chr11:55579400C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.458C>T	chr11.hg19:g.55579400C>T	ENSP00000335529:p.Thr153Met	0						p.T153M	NM_001004738.1	NP_001004738.1	1	2	3	2.063691	Q8NGL2	OR5L1_HUMAN		1	547	+		all_epithelial(135;0.208)	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	1	1	hg19	c.458C>T	CCDS31509.1	1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	c	9.351	1.065546	0.20067	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	3.98	-3.09	0.05331	3.98	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.09292	-1.0681	10	0.44086	T	0.13	-0.6723	10.911	0.47108	0.0:0.2882:0.0:0.7118	.	153	Q8NGL2	OR5L1_HUMAN	M	153	ENSP00000335529:T153M	ENSP00000335529:T153M	T	+	2	0	0	OR5L1	55335976	55335976	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.308000	0.08156	-0.861000	0.04094	-0.516000	0.04426	ACG	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	1	0	1		2	2	2	0		0	0	108		108	108	1	1.820000	-20.000000	1	0.310000	NM_001004738			168	168		871	866	1		1			0	0	108	0		1.000000	0	0	0	0	0	0	168	871
RARRES3	5920	broad.mit.edu	37	11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:63307030C>T	ENST00000255688.3	+	2	100	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000439013.2_Missense_Mutation_p.R18C	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	18					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGAGATTTTCCGCCTTGGCTA	0.483																																						ENST00000255688.3	0.640000	0.310000	5.400000e-01	3.700000e-01	0.440000	0.461257	0.440000	0.440000																										0				6						c.(52-54)Cgc>Tgc		retinoic acid receptor responder (tazarotene induced) 3							114.0	123.0	120.0					11																	63307030		2197	4298	6495	SO:0001583	missense	5920	8	121406	42				g.chr11:63307030C>T		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.52C>T	chr11.hg19:g.63307030C>T	ENSP00000255688:p.Arg18Cys	0					RARRES3_ENST00000439013.2_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C	p.R18C	NM_004585.3	NP_004576.2	1	2	3	2.063691	Q9UL19	HRSL4_HUMAN		2	100	+			B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	1	1	hg19	c.52C>T	CCDS41662.1	0	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768386	0.49680	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.46063	0.88;0.88;0.88	4.35	2.47	0.30058	4.35	2.47	0.30058	.	0.263285	0.27636	N	0.018488	T	0.65523	0.2699	M	0.90369	3.11	0.09310	N	0.999993	D	0.89917	1.0	D	0.73380	0.98	T	0.57388	-0.7820	10	0.87932	D	0	.	8.3897	0.32520	0.0:0.8054:0.0:0.1946	.	18	Q9UL19	TIG3_HUMAN	C	18	ENSP00000402943:R18C;ENSP00000255688:R18C;ENSP00000346431:R18C	ENSP00000255688:R18C	R	+	1	0	0	RARRES3	63063606	63063606	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.900000	0.39828	0.591000	0.29711	-0.251000	0.11542	CGC	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.483	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	1		2	2	2	0		0	0	57		57	57	1	1.820000	-2.774718	1	0.310000				31	31		419	416	0		1	1		0	0	57	0		1.000000	1	0	91	0	560	0	31	419
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:64434761C>T	ENST00000377551.1	-	8	1970	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000265459.6_Missense_Mutation_p.E587K			Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592																																						ENST00000377551.1	1.000000	0.730000	1	8.200000e-01	0.910000	0.909411	0.910000	1.000000																										1	Substitution - Missense(1)	p.E587K(1)	large_intestine(1)	71						c.(1759-1761)Gag>Aag		neurexin 2							92.0	75.0	81.0					11																	64434761		2201	4297	6498	SO:0001583	missense	9379	0	0					g.chr11:64434761C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1759G>A	chr11.hg19:g.64434761C>T	ENSP00000366774:p.Glu587Lys	0					NRXN2_ENST00000265459.6_Missense_Mutation_p.E587K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K	p.E587K			1	2	3	2.063691	Q9P2S2	NRX2A_HUMAN		8	1970	-			A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	1	1	hg19	c.1759G>A	CCDS8077.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.087169	0.94100	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.61	4.61	0.57282	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	U	0.000657	T	0.80491	0.4633	L	0.28115	0.83	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.69479	0.964;0.936;0.909	T	0.83054	-0.0151	10	0.72032	D	0.01	.	14.9631	0.71171	0.0:1.0:0.0:0.0	.	556;587;333	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	587;556;587;556;580	ENSP00000366774:E587K;ENSP00000366782:E556K;ENSP00000265459:E587K;ENSP00000386416:E580K	ENSP00000265459:E587K	E	-	1	0	0	NRXN2	64191337	64191337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.637000	0.83313	2.383000	0.81215	0.448000	0.29417	GAG	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	1	0	1		2	2	2	0		0	0	120		120	118	1	1.820000	-3.142769	1	0.310000	NM_015080			81	80		492	486	1		1	0		0	0	120	0		1.000000	0	0	0	0	1	0	81	492
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.620000	9.700000e-01	7.500000e-01	0.870000	0.862398	0.870000	0.990000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	0	1	1	1.717647	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.183432		TCGA-HZ-A4BH-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		2	2	2	0		0	0	10		10	10	1	1.820000	-14.884310	1	0.310000	NM_033360			21	21		90	89	1		1	1	1	0	0	10	389		0.999999	8.023678e-01	1	11	28	4	131	21	90
AGAP2	116986	broad.mit.edu	37	12	58127884	58127884	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:58127884G>A	ENST00000547588.1	-	5	1473	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	AGAP2_ENST00000257897.3_Missense_Mutation_p.R156C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	492	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R156S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCATGGAGACGGCTCACAGCC	0.592																																						ENST00000547588.1	0.760000	0.270000	6.000000e-01	3.600000e-01	0.460000	0.486154	0.460000	0.460000																										1	Substitution - Missense(1)	p.R156S(1)	lung(1)	48						c.(1474-1476)Cgt>Tgt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							63.0	52.0	56.0					12																	58127884		2203	4300	6503	SO:0001583	missense	116986	0	0					g.chr12:58127884G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1474C>T	chr12.hg19:g.58127884G>A	ENSP00000449241:p.Arg492Cys	0					AGAP2_ENST00000257897.3_Missense_Mutation_p.R156C	p.R492C	NM_001122772.2	NP_001116244.1	1	2	3	2.068349	Q99490	AGAP2_HUMAN		5	1473	-			A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	1	1	hg19	c.1474C>T	CCDS44932.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086143|3.086143	0.55861|0.55861	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.23552	.|1.9;1.9	5.43|5.43	3.6|3.6	0.41247|0.41247	5.43|5.43	3.6|3.6	0.41247|0.41247	.|Mitochondrial Rho-like (1);	.|0.401538	.|0.26092	.|N	.|0.026393	T|T	0.43986|0.43986	0.1272|0.1272	L|L	0.52905|0.52905	1.665|1.665	0.39166|0.39166	D|D	0.962491|0.962491	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|P;D;D	.|0.70487	.|0.671;0.948;0.969	T|T	0.34850|0.34850	-0.9812|-0.9812	5|10	.|0.56958	.|D	.|0.05	.|.	13.0081|13.0081	0.58717|0.58717	0.1502:0.0:0.8498:0.0|0.1502:0.0:0.8498:0.0	.|.	.|156;492;492	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	L|C	355|156;492	.|ENSP00000257897:R156C;ENSP00000449241:R492C	.|ENSP00000257897:R156C	P|R	-|-	2|1	0|0	0|0	AGAP2|AGAP2	56414151|56414151	56414151|56414151	0.258000|0.258000	0.24033|0.24033	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	0.557000|0.557000	0.23454|0.23454	0.378000|0.378000	0.24764|0.24764	-1.134000|-1.134000	0.01955|0.01955	CCG|CGT	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.592	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	1	0	1		2	2	2	0		0	0	37		37	36	1	1.820000	-3.319119	1	0.310000	NM_014770			15	15		196	195	0		1	0		0	0	37	0		0.999886	9.462908e-02	0	0	0	7	0	15	196
MSRB3	253827	broad.mit.edu	37	12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T	rs267603630		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:65857005C>T	ENST00000355192.3	+	6	608	c.482C>T	c.(481-483)tCg>tTg	p.S161L	MSRB3_ENST00000308259.5_Missense_Mutation_p.S154L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	161					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.S161L(1)|p.S154L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547																																						ENST00000355192.3	1.000000	0.720000	1	8.000000e-01	0.890000	0.894774	0.890000	1.000000																										2	Substitution - Missense(2)	p.S161L(1)|p.S154L(1)	large_intestine(2)	13						c.(481-483)tCg>tTg		methionine sulfoxide reductase B3							147.0	130.0	136.0					12																	65857005		2203	4300	6503	SO:0001583	missense	253827	0	0					g.chr12:65857005C>T	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.482C>T	chr12.hg19:g.65857005C>T	ENSP00000347324:p.Ser161Leu	0					MSRB3_ENST00000308259.5_Missense_Mutation_p.S154L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	p.S161L	NM_198080.3	NP_932346.1	1	2	3	2.068349	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	6	608	+			B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	1	1	hg19	c.482C>T	CCDS8973.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.393034	0.96009	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.76	5.76	0.90799	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96448	0.9332	9	.	.	.	-2.9871	20.3325	0.98724	0.0:1.0:0.0:0.0	.	161;154	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	L	161;154;154;154	ENSP00000347324:S161L;ENSP00000312274:S154L;ENSP00000441650:S154L;ENSP00000445843:S154L	.	S	+	2	0	0	MSRB3	64143272	64143272	1.000000	0.71417	0.196000	0.23383	0.071000	0.16799	6.792000	0.75125	2.890000	0.99128	0.655000	0.94253	TCG	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.547	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	1	0	1		2	2	2	0		0	0	85		85	84	1	1.820000	-2.966636	1	0.310000	NM_198080			82	80		510	503	1		1	0		0	0	85	0		1.000000	9.920609e-01	0	0	0	48	0	82	510
NBEA	26960	broad.mit.edu	37	13	35735929	35735929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:35735929C>T	ENST00000400445.3	+	23	4438	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1302					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCGAGATCTCCGAGTTGATTT	0.433																																						ENST00000400445.3	0.600000	0.100000	4.200000e-01	1.700000e-01	0.270000	0.304966	0.270000	0.250000																										0				108						c.(3904-3906)Cga>Tga		neurobeachin							104.0	97.0	99.0					13																	35735929		1922	4124	6046	SO:0001587	stop_gained	26960	0	0					g.chr13:35735929C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3904C>T	chr13.hg19:g.35735929C>T	ENSP00000383295:p.Arg1302*	0					NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302*	p.R1302*	NM_015678.4	NP_056493.3	1	2	3	2.071293	Q8NFP9	NBEA_HUMAN		23	4438	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	0	1	hg19	c.3904C>T	CCDS45026.1	0	.	.	.	.	.	.	.	.	.	.	C	48	13.944603	0.99771	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.04	1.83	0.25207	5.04	1.83	0.25207	.	0.156994	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3905	0.66975	0.4506:0.5494:0.0:0.0	.	.	.	.	X	1302	.	ENSP00000308534:R1302X	R	+	1	2	2	NBEA	34633929	34633929	0.982000	0.34865	0.995000	0.50966	0.984000	0.73092	0.644000	0.24766	0.481000	0.27557	0.591000	0.81541	CGA	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	23		23	23	1	1.820000	-3.099096	1	0.310000	NM_015678			5	5		121	120	0		1	0		0	0	23	0		0.937521	0	0	0	0	1	0	5	121
COL4A2	1284	broad.mit.edu	37	13	111121596	111121596	+	Missense_Mutation	SNP	G	G	A	rs375421811		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:111121596G>A	ENST00000360467.5	+	28	2434	c.2128G>A	c.(2128-2130)Gca>Aca	p.A710T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	710	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCAGGCTTCGCAGGAGCTGA	0.572																																						ENST00000360467.5	1.000000	0.680000	1	8.900000e-01	0.990000	0.959614	0.990000	1.000000																										0				80						c.(2128-2130)Gca>Aca		collagen, type IV, alpha 2		T	THR/ALA	0,3814		0,0,1907	70.0	69.0	69.0		2128	-5.1	0.1	13		69	1,8247		0,1,4123	no	missense	COL4A2	NM_001846.2	58	0,1,6030	AA,AG,GG		0.0121,0.0,0.0083	benign	710/1713	111121596	1,12061	1907	4124	6031	SO:0001583	missense	1284	5	120548	40				g.chr13:111121596G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2128G>A	chr13.hg19:g.111121596G>A	ENSP00000353654:p.Ala710Thr	0						p.A710T	NM_001846.2	NP_001837.2	1	2	3	2.071293	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)	28	2434	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	1	1	hg19	c.2128G>A	CCDS41907.1	1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888790	0.52014	0.0	1.21E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.57	-5.12	0.02893	5.57	-5.12	0.02893	.	0.651803	0.13327	N	0.396252	D	0.85457	0.5701	L	0.42686	1.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71048	-0.4705	10	0.30078	T	0.28	.	4.5599	0.12154	0.1987:0.4843:0.1005:0.2165	.	710	P08572	CO4A2_HUMAN	T	710	ENSP00000353654:A710T	ENSP00000257309:A710T	A	+	1	0	0	COL4A2	109919597	109919597	0.000000	0.05858	0.061000	0.19648	0.006000	0.05464	-0.603000	0.05674	-0.842000	0.04195	-1.221000	0.01599	GCA	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.572	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1		2	2	2	0		0	0	16		16	16	1	1.820000	-11.142240	1	0.310000	NM_001846			14	13		65	65	1		1	0		0	0	16	0		0.999834	1	0	0	0	874	0	14	65
FAM179B	23116	broad.mit.edu	37	14	45431977	45431977	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr14:45431977C>T	ENST00000361577.3	+	1	567	c.353C>T	c.(352-354)gCt>gTt	p.A118V	KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V|FAM179B_ENST00000361462.2_Missense_Mutation_p.A118V	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	118										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGCAAGCTGCTTTGCCG	0.617																																						ENST00000361577.3	1.000000	0.280000	1	3.300000e-01	0.380000	0.489637	0.380000	0.380000																										0				45						c.(352-354)gCt>gTt		family with sequence similarity 179, member B							60.0	68.0	65.0					14																	45431977		2201	4298	6499	SO:0001583	missense	23116	0	0					g.chr14:45431977C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.353C>T	chr14.hg19:g.45431977C>T	ENSP00000355045:p.Ala118Val	1					KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A118V	p.A118V	NM_015091.2	NP_055906.2	0	3	3	2.125584	Q9Y4F4	F179B_HUMAN		1	567	+			Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	1	1	hg19	c.353C>T	CCDS9681.1	0	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038206	0.75617	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.56611	0.45;0.45;0.45	4.88	4.88	0.63580	4.88	4.88	0.63580	Armadillo-like helical (1);	0.146929	0.31554	N	0.007443	T	0.58235	0.2108	N	0.24115	0.695	0.31602	N	0.6526	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.64170	-0.6470	10	0.66056	D	0.02	-11.2912	13.4039	0.60900	0.0:1.0:0.0:0.0	.	118;118;118;118	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	118	ENSP00000355045:A118V;ENSP00000354917:A118V;ENSP00000371668:A118V	ENSP00000354917:A118V	A	+	2	0	0	FAM179B	44501727	44501727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.581000	0.53914	2.526000	0.85167	0.655000	0.94253	GCT	0.334747		TCGA-HZ-A4BH-01A-11D-A26I-08	0.617	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1		2	2	2	0		0	0	139		139	134	1	1.820000	-7.919481	1	0.310000	XM_113781			51	51		856	847	0		1	0		0	0	139	0		1.000000	1.844637e-02	0	0	0	4	0	51	856
APBA2	321	broad.mit.edu	37	15	29346316	29346316	+	Missense_Mutation	SNP	G	G	A	rs140795962		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:29346316G>A	ENST00000558402.1	+	5	828	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	APBA2_ENST00000411764.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M|APBA2_ENST00000558259.1_Missense_Mutation_p.V77M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	77					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTGACTACGTGAACAACAC	0.637																																						ENST00000558402.1	1.000000	0.740000	9.700000e-01	8.100000e-01	0.880000	0.893932	0.880000	1.000000																										0				59						c.(229-231)Gtg>Atg		amyloid beta (A4) precursor protein-binding, family A, member 2		G	MET/VAL,MET/VAL	0,4406		0,0,2203	115.0	117.0	117.0		229,229	5.2	1.0	15	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	77/738,77/750	29346316	1,13005	2203	4300	6503	SO:0001583	missense	321	2	121412	39				g.chr15:29346316G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.229G>A	chr15.hg19:g.29346316G>A	ENSP00000453293:p.Val77Met	0					APBA2_ENST00000411764.1_Missense_Mutation_p.V77M|APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M	p.V77M			0	1	1	2.056661	Q99767	APBA2_HUMAN		5	828	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	1	1	hg19	c.229G>A	CCDS10022.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904297	0.72868	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.52295	0.67	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.145082	0.46145	D	0.000306	T	0.66356	0.2781	M	0.68952	2.095	0.48632	D	0.999683	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.64237	0.923;0.797;0.797	T	0.70099	-0.4965	10	0.87932	D	0	.	17.832	0.88685	0.0:0.0:1.0:0.0	.	77;77;77	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	77	ENSP00000409312:V77M	ENSP00000219865:V77M	V	+	1	0	0	APBA2	27133608	27133608	1.000000	0.71417	0.989000	0.46669	0.827000	0.46813	6.796000	0.75145	2.423000	0.82170	0.650000	0.86243	GTG	0.308929		TCGA-HZ-A4BH-01A-11D-A26I-08	0.637	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	1		19	2	2	0		0	1	160		160	160	1	1.820000	-20.000000	1	0.310000	NM_005503			123	122		763	757	1		1	0		0	0	160	0		1.000000	3.641623e-01	0	0	0	9	0	123	763
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A	rs377025983		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637																																						ENST00000262320.3	0.630000	0.350000	5.700000e-01	4.100000e-01	0.480000	0.496159	0.480000	0.480000																										0				221						c.(1960-1962)tCg>tTg		axin 1		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	93.0	91.0		1961,1961	4.2	0.5	16		91	0,8600		0,0,4300	no	missense,missense	AXIN1	NM_003502.3,NM_181050.2	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	654/863,654/827	343713	1,13005	2203	4300	6503	SO:0001583	missense	8312	2	121370	32				g.chr16:343713G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1961C>T	chr16.hg19:g.343713G>A	ENSP00000262320:p.Ser654Leu	0					AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	p.S654L	NM_003502.3	NP_003493.1	0	1	1	2.055065	O15169	AXIN1_HUMAN		8	2332	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	1	1	hg19	c.1961C>T	CCDS10405.1	0	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373947	0.61735	2.27E-4	0.0	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61742	0.08;0.08	4.17	4.17	0.49024	4.17	4.17	0.49024	.	0.309451	0.34853	N	0.003624	T	0.65471	0.2694	M	0.63843	1.955	0.47153	D	0.99933	D;D	0.64830	0.994;0.99	P;P	0.52909	0.713;0.52	T	0.69068	-0.5243	10	0.48119	T	0.1	-21.2179	15.6374	0.76966	0.0:0.0:1.0:0.0	.	654;654	O15169-2;O15169	.;AXIN1_HUMAN	L	654	ENSP00000262320:S654L;ENSP00000346935:S654L	ENSP00000262320:S654L	S	-	2	0	0	AXIN1	283714	283714	1.000000	0.71417	0.509000	0.27700	0.094000	0.18550	4.945000	0.63568	2.185000	0.69588	0.478000	0.44815	TCG	0.308929		TCGA-HZ-A4BH-01A-11D-A26I-08	0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	1	0	1		2	2	2	0		0	0	109		109	108	1	1.820000	-10.798960	1	0.310000				43	42		524	519	0		1	1		0	0	109	0		1.000000	9.940773e-01	0	24	0	72	0	43	524
ZNF267	10308	broad.mit.edu	37	16	31926313	31926313	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:31926313A>G	ENST00000300870.10	+	4	952	c.743A>G	c.(742-744)gAa>gGa	p.E248G		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	248					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAATGTAAAGAATTTGAGGAA	0.303																																						ENST00000300870.10	1.000000	0.700000	1	8.100000e-01	0.940000	0.919989	0.940000	1.000000																										0				41						c.(742-744)gAa>gGa		zinc finger protein 267							27.0	29.0	28.0					16																	31926313		2171	4259	6430	SO:0001583	missense	10308	0	0					g.chr16:31926313A>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.743A>G	chr16.hg19:g.31926313A>G	ENSP00000300870:p.Glu248Gly	0						p.E248G	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	0	0	0	2.012011	Q14586	ZN267_HUMAN		4	952	+			A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	0	1	hg19	c.743A>G	CCDS32440.1	1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.655457	0.29425	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.17528	2.27	0.458	0.458	0.16670	0.458	0.458	0.16670	.	.	.	.	.	T	0.16557	0.0398	M	0.63169	1.94	0.26123	N	0.980529	B	0.06786	0.001	B	0.01281	0.0	T	0.27571	-1.0070	9	0.87932	D	0	.	5.2013	0.15267	0.9999:0.0:1.0E-4:0.0	.	248	Q14586	ZN267_HUMAN	G	248;215	ENSP00000300870:E248G	ENSP00000300870:E248G	E	+	2	0	0	ZNF267	31833814	31833814	0.001000	0.12720	0.109000	0.21407	0.096000	0.18686	0.550000	0.23345	0.407000	0.25591	0.397000	0.26171	GAA	0.292453		TCGA-HZ-A4BH-01A-11D-A26I-08	0.303	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1		2	2	2	0		0	0	15		15	15	1	1.820000	-20.000000	1	0.310000	NM_003414			43	43		243	243	1		1	1		0	0	15	0		1.000000	8.767708e-01	0	7	0	16	0	43	243
HEATR3	55027	broad.mit.edu	37	16	50112735	50112735	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:50112735G>A	ENST00000299192.7	+	7	1038	c.847G>A	c.(847-849)Gtt>Att	p.V283I	HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	283										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTATCTGAAGTTTTGGGAAT	0.378																																						ENST00000299192.7	0.260000	0.060000	2.000000e-01	9.000000e-02	0.140000	0.155799	0.140000	0.140000																										0				28						c.(847-849)Gtt>Att		HEAT repeat containing 3							77.0	76.0	76.0					16																	50112735		2198	4300	6498	SO:0001583	missense	55027	0	0					g.chr16:50112735G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.847G>A	chr16.hg19:g.50112735G>A	ENSP00000299192:p.Val283Ile	0					HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	p.V283I	NM_182922.2	NP_891552.1	0	0	0	2.012011	Q7Z4Q2	HEAT3_HUMAN		7	1038	+			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	0	1	hg19	c.847G>A	CCDS10739.1	0	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918750	0.73098	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.31769	1.48;1.48	5.74	4.79	0.61399	5.74	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.492308	0.24010	N	0.042387	T	0.34919	0.0914	M	0.64997	1.995	0.25653	N	0.986075	P;P	0.50272	0.933;0.501	P;B	0.47251	0.542;0.039	T	0.20140	-1.0284	10	0.29301	T	0.29	.	9.7486	0.40462	0.0742:0.0:0.7542:0.1716	.	197;283	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	I	197;283	ENSP00000285767:V197I;ENSP00000299192:V283I	ENSP00000285767:V197I	V	+	1	0	0	HEATR3	48670236	48670236	0.926000	0.31397	0.779000	0.31741	0.993000	0.82548	1.464000	0.35288	1.569000	0.49696	0.637000	0.83480	GTT	0.292453		TCGA-HZ-A4BH-01A-11D-A26I-08	0.378	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	0	0	1		2	2	2	0		0	0	28		28	28	1	1.820000	-8.271699	1	0.310000	NM_182922			8	8		351	348	0		1	0		0	0	28	0		0.989073	1.570797e-01	0	0	0	28	0	8	351
RLTPR	146206	broad.mit.edu	37	16	67682804	67682804	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:67682804G>A	ENST00000334583.6	+	17	1846	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	RLTPR_ENST00000545661.1_Silent_p.S470S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	506					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCTGCGCTCGGCCGGCGCCC	0.682																																						ENST00000334583.6	0.690000	0.110000	5.100000e-01	2.000000e-01	0.330000	0.363489	0.330000	0.300000																										0				18						c.(1516-1518)tcG>tcA		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							33.0	39.0	37.0					16																	67682804		2045	4201	6246	SO:0001819	synonymous_variant	146206	0	0					g.chr16:67682804G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1518G>A	chr16.hg19:g.67682804G>A		0					RLTPR_ENST00000545661.1_Silent_p.S470S	p.S506S	NM_001013838.1	NP_001013860.1	0	0	0	2.012011	Q6F5E8	LR16C_HUMAN		17	1846	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	B8X2Z3	Silent	SNP	ENST00000334583.6	0	1	hg19	c.1518G>A	CCDS45513.1	0																																																																																								0.292453		TCGA-HZ-A4BH-01A-11D-A26I-08	0.682	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	0	0	1		2	2	2	0		0	0	11		11	11	1	1.820000	-7.844712	1	0.310000	NM_001013838			4	4		78	77	0		1	0		0	0	11	0		0.889214	2.256845e-02	0	0	0	4	0	4	78
ADAD2	161931	broad.mit.edu	37	16	84229512	84229512	+	Missense_Mutation	SNP	G	G	A	rs142081193	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:84229512G>A	ENST00000315906.5	+	7	1196	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V464M	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716																																						ENST00000315906.5	0.710000	0.240000	5.800000e-01	3.300000e-01	0.450000	0.466999	0.450000	0.430000																										0				13						c.(1144-1146)Gtg>Atg		adenosine deaminase domain containing 2							22.0	26.0	24.0					16																	84229512		2198	4298	6496	SO:0001583	missense	161931	22	121100	41				g.chr16:84229512G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1144G>A	chr16.hg19:g.84229512G>A	ENSP00000325153:p.Val382Met	0					RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V464M|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	p.V382M	NM_001145400.1	NP_001138872.1	0	0	0	2.037557	Q8NCV1	ADAD2_HUMAN		7	1196	+			B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	1	1	hg19	c.1144G>A	CCDS45536.1	0	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885176	0.33255	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.94280	-3.39;-3.39	5.49	-2.27	0.06846	5.49	-2.27	0.06846	Adenosine deaminase/editase (2);	0.653207	0.14249	N	0.331597	D	0.86928	0.6051	L	0.53617	1.68	0.31539	N	0.660181	P;P	0.45396	0.857;0.856	B;B	0.33890	0.172;0.114	T	0.81936	-0.0705	10	0.33940	T	0.23	-14.3004	9.5447	0.39273	0.1738:0.6193:0.2068:0.0	.	382;464	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	M	382;464	ENSP00000325153:V382M;ENSP00000268624:V464M	ENSP00000268624:V464M	V	+	1	0	0	ADAD2	82787013	82787013	0.006000	0.16342	0.724000	0.30704	0.475000	0.33008	0.019000	0.13444	-0.237000	0.09739	0.561000	0.74099	GTG	0.301337		TCGA-HZ-A4BH-01A-11D-A26I-08	0.716	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	1	0	1		2	2	2	0		0	0	35		35	35	1	1.820000	-16.876340	1	0.310000	NM_139174			12	12		161	160	0		1			0	0	35	0		0.999194	0	0	0	0	0	0	12	161
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:2996105G>A	ENST00000331459.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	62					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537																																						ENST00000331459.1	0.590000	0.380000	5.400000e-01	4.300000e-01	0.480000	0.491526	0.480000	0.490000																										0				15						c.(184-186)ttC>ttT		olfactory receptor, family 1, subfamily D, member 2							153.0	150.0	151.0					17																	2996105		2203	4300	6503	SO:0001819	synonymous_variant	4991	0	0					g.chr17:2996105G>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.186C>T	chr17.hg19:g.2996105G>A		1						p.F62F	NM_002548.2	NP_002539.2	0	1	1	1.754142	P34982	OR1D2_HUMAN		1	185	-			Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	1	1	hg19	c.186C>T	CCDS11019.1	0																																																																																								0.183432		TCGA-HZ-A4BH-01A-11D-A26I-08	0.537	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	1	0	1		2	2	2	0		0	0	159		159	159	1	1.820000	-19.886920	1	0.310000	NM_002548			81	79		822	800	0		1			0	0	159	0		1.000000	0	0	0	0	0	0	81	822
OR1A1	8383	broad.mit.edu	37	17	3119669	3119669	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:3119669G>A	ENST00000304094.1	+	1	755	c.755G>A	c.(754-756)gGt>gAt	p.G252D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTATTATGGTACAGTCATG	0.498																																						ENST00000304094.1	1.000000	0.790000	9.800000e-01	8.500000e-01	0.920000	0.918875	0.920000	0.940000																										0				23						c.(754-756)gGt>gAt		olfactory receptor, family 1, subfamily A, member 1							160.0	137.0	144.0					17																	3119669		2203	4300	6503	SO:0001583	missense	8383	1	121408	32				g.chr17:3119669G>A	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.755G>A	chr17.hg19:g.3119669G>A	ENSP00000305207:p.Gly252Asp	1						p.G252D	NM_014565.2	NP_055380.2	0	1	1	1.754142	Q9P1Q5	OR1A1_HUMAN		1	755	+			A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	1	1	hg19	c.755G>A	CCDS11022.1	1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111392	0.56398	.	.	ENSG00000172146	ENST00000304094	T	0.39229	1.09	5.05	5.05	0.67936	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.78748	0.4332	H	0.98333	4.205	0.32665	N	0.517561	D	0.89917	1.0	D	0.97110	1.0	D	0.88672	0.3196	10	0.87932	D	0	.	17.1395	0.86749	0.0:0.0:1.0:0.0	.	252	Q9P1Q5	OR1A1_HUMAN	D	252	ENSP00000305207:G252D	ENSP00000305207:G252D	G	+	2	0	0	OR1A1	3066419	3066419	0.925000	0.31364	1.000000	0.80357	0.607000	0.37147	1.912000	0.39946	2.632000	0.89209	0.511000	0.50034	GGT	0.183432		TCGA-HZ-A4BH-01A-11D-A26I-08	0.498	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	1	0	1		2	2	2	0		0	0	94		94	93	1	1.820000	-20.000000	1	0.310000	NM_014565			136	136		646	641	1		1			0	0	94	0		1.000000	0	0	0	0	0	0	136	646
ABHD15	116236	broad.mit.edu	37	17	27889843	27889843	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27889843G>A	ENST00000307201.4	-	2	1313	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	381						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCAGGAGGAAGAAGTAGGGGT	0.617																																						ENST00000307201.4	1.000000	0.330000	1	4.100000e-01	0.510000	0.610030	0.510000	0.470000																										0				10						c.(1141-1143)ttC>ttT		abhydrolase domain containing 15							70.0	72.0	71.0					17																	27889843		2203	4300	6503	SO:0001819	synonymous_variant	116236	0	0					g.chr17:27889843G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1143C>T	chr17.hg19:g.27889843G>A		1					RP11-68I3.2_ENST00000581474.1_RNA	p.F381F	NM_198147.2	NP_937790.2	1	2	3	2.234057	Q6UXT9	ABH15_HUMAN		2	1313	-			Q96EC5	Silent	SNP	ENST00000307201.4	1	1	hg19	c.1143C>T	CCDS32602.1	0																																																																																								0.355923		TCGA-HZ-A4BH-01A-11D-A26I-08	0.617	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	1	0	1		2	2	2	0		0	0	87		87	87	1	1.820000	-20.000000	1	0.310000	NM_198147			31	30		420	416	0		1	1		0	0	87	0		1.000000	7.069741e-01	0	2	0	33	0	31	420
PRR11	55771	broad.mit.edu	37	17	57270937	57270937	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270937C>T	ENST00000262293.4	+	5	799	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	163						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCCTGCGTTCTGATCACCCC	0.532																																						ENST00000262293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(487-489)Ctg>Ttg		proline rich 11							166.0	129.0	142.0					17																	57270937		2203	4300	6503	SO:0001819	synonymous_variant	55771	0	0					g.chr17:57270937C>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.487C>T	chr17.hg19:g.57270937C>T		1						p.L163L	NM_018304.3	NP_060774.2	1	6	7	3.668927	Q96HE9	PRR11_HUMAN		5	799	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	1	1	hg19	c.487C>T	CCDS11614.1	1																																																																																								0.611268		TCGA-HZ-A4BH-01A-11D-A26I-08	0.532	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	0		2	2	2	0		0	0	47		47	47	1	1.820000	-20.000000	1	0.310000	NM_018304			102	88		623	619	0		1	1		0	0	47	0		1.000000	9.723178e-01	0	4	0	33	0	102	623
PRR11	55771	broad.mit.edu	37	17	57270942	57270942	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270942C>G	ENST00000262293.4	+	5	804	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	164						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCGTTCTGATCACCCCTGGAG	0.537																																						ENST00000262293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(490-492)atC>atG		proline rich 11							166.0	128.0	141.0					17																	57270942		2203	4300	6503	SO:0001583	missense	55771	0	0					g.chr17:57270942C>G		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.492C>G	chr17.hg19:g.57270942C>G	ENSP00000262293:p.Ile164Met	1						p.I164M	NM_018304.3	NP_060774.2	1	6	7	3.668927	Q96HE9	PRR11_HUMAN		5	804	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	1	1	hg19	c.492C>G	CCDS11614.1	1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496371	0.12762	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.25	1.87	0.25490	5.25	1.87	0.25490	.	0.783614	0.11729	N	0.535099	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.32396	0.369	B	0.35073	0.195	T	0.19063	-1.0317	9	0.44086	T	0.13	-9.65	3.8305	0.08873	0.2002:0.5605:0.1516:0.0877	.	164	Q96HE9	PRR11_HUMAN	M	164	.	ENSP00000262293:I164M	I	+	3	3	3	PRR11	54625724	54625724	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.329000	0.19698	0.165000	0.19558	0.561000	0.74099	ATC	0.611268		TCGA-HZ-A4BH-01A-11D-A26I-08	0.537	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	0		2	2	2	0		0	0	48		48	48	1	1.820000	-20.000000	1	0.310000	NM_018304			103	87		614	612	1		1	1		0	0	48	0		1.000000	9.638231e-01	0	4	0	30	0	103	614
PRR11	55771	broad.mit.edu	37	17	57271006	57271006	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271006C>A	ENST00000262293.4	+	5	868	c.556C>A	c.(556-558)Cct>Act	p.P186T		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	186	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCATTTtcctcctcctcctcc	0.547																																						ENST00000262293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(556-558)Cct>Act		proline rich 11							117.0	86.0	96.0					17																	57271006		2203	4300	6503	SO:0001583	missense	55771	0	0					g.chr17:57271006C>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.556C>A	chr17.hg19:g.57271006C>A	ENSP00000262293:p.Pro186Thr	1						p.P186T	NM_018304.3	NP_060774.2	1	6	7	3.668927	Q96HE9	PRR11_HUMAN		5	868	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	0	0	hg19	c.556C>A	CCDS11614.1	1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174345	0.38413	.	.	ENSG00000068489	ENST00000262293	.	.	.	4.53	3.53	0.40419	4.53	3.53	0.40419	.	0.428017	0.22147	N	0.063971	T	0.28863	0.0716	L	0.27053	0.805	0.09310	N	0.999999	P	0.47302	0.893	P	0.44811	0.461	T	0.08126	-1.0737	9	0.59425	D	0.04	-8.2827	10.3157	0.43736	0.0:0.903:0.0:0.097	.	186	Q96HE9	PRR11_HUMAN	T	186	.	ENSP00000262293:P186T	P	+	1	0	0	PRR11	54625788	54625788	0.000000	0.05858	0.009000	0.14445	0.863000	0.49368	0.108000	0.15396	1.000000	0.39049	0.561000	0.74099	CCT	0.611268		TCGA-HZ-A4BH-01A-11D-A26I-08	0.547	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	0		2	2	2	0		0	0	51		51	52	1	1.820000	-20.000000	1	0.310000	NM_018304			92	83		491	516	1		1	1		0	0	51	0		1.000000	9.967791e-01	0	5	0	43	0	92	491
PRR11	55771	broad.mit.edu	37	17	57271015	57271016	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271015_57271016CC>TT	ENST00000262293.4	+	5	877_878	c.565_566CC>TT	c.(565-567)CCa>TTa	p.P189L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	189	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					tcctcctcctccacctccacct	0.545																																						ENST00000262293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(565-567)Cca>Tca|c.(565-567)cCa>cTa		proline rich 11																																				SO:0001583	missense	55771	0	0					g.chr17:57271015C>T|g.chr17:57271016C>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		Exception_encountered	chr17.hg19:g.57271015_57271016delinsTT	ENSP00000262293:p.Pro189Leu	1						p.P189S|p.P189L	NM_018304.3	NP_060774.2	1	6	7	3.668927	Q96HE9	PRR11_HUMAN		5	877|878	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	1	0	hg19	c.565C>T|c.566C>T	CCDS11614.1	1																									5.5	5.5|3.47	0.81552|0.39725																																												0			54625797|54625798														0.611268		TCGA-HZ-A4BH-01A-11D-A26I-08	0.545	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	0		2	2	2	0		0	0	60		60	61	1	1.820000	-3.144808|-3.145223	1	0.310000	NM_018304			91|93	82|84		487|493	492|490	1		1	1		0	0	60	0		1.000000	9.941523e-01|9.945401e-01	0	3	0	41	0	91	487
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	rs587781991		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)	GGCCAGTTGGCAAAACATCTT	0.572		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)	ENST00000269305.4	0.990000	0.640000	9.500000e-01	7.500000e-01	0.860000	0.856401	0.860000	0.900000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)	24185						c.(403-405)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						50.0	50.0	50.0					17																	7578526		2203	4300	6503	SO:0001583	missense	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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;	g.chr17:7578526C>T	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.404G>A	chr17.hg19:g.7578526C>T	ENSP00000269305:p.Cys135Tyr	1	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_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y	p.C135Y	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	0	1	1	1.754142	P04637	P53_HUMAN		5	593	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	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	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.404G>A	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	0	TP53	7519251	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	0.183432		TCGA-HZ-A4BH-01A-11D-A26I-08	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	40		40	40	1	1.820000	-20.000000	1	0.310000	NM_000546			37	37		183	182	1		1	1	1	0	0	40	1809		1.000000	9.996891e-01	1	31	67	33	256	37	183
PRR11	55771	broad.mit.edu	37	17	57271093	57271093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271093C>T	ENST00000262293.4	+	5	955	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	215						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAAAGCACTTCAGGTAGGTAA	0.473																																						ENST00000262293.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(643-645)Cag>Tag		proline rich 11							100.0	85.0	90.0					17																	57271093		2203	4300	6503	SO:0001587	stop_gained	55771	1	121412	28				g.chr17:57271093C>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.643C>T	chr17.hg19:g.57271093C>T	ENSP00000262293:p.Gln215*	1						p.Q215*	NM_018304.3	NP_060774.2	1	6	7	3.668927	Q96HE9	PRR11_HUMAN		5	955	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		Q9NUZ7|Q9NXE9	Nonsense_Mutation	SNP	ENST00000262293.4	0	1	hg19	c.643C>T	CCDS11614.1	1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127327	0.37533	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.107189	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.9529	16.467	0.84081	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000262293:Q215X	Q	+	1	0	0	PRR11	54625875	54625875	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	3.865000	0.56033	2.729000	0.93468	0.561000	0.74099	CAG	0.611268		TCGA-HZ-A4BH-01A-11D-A26I-08	0.473	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	0	0	0		2	2	2	0		0	0	61		61	60	1	1.820000	-4.015504	1	0.310000	NM_018304			156	154		572	562	1		1	1		0	0	61	0		1.000000	9.985986e-01	0	3	0	35	0	156	572
COL5A3	50509	broad.mit.edu	37	19	10097024	10097024	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:10097024G>A	ENST00000264828.3	-	30	2404	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	773	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCCTCCTCGCCAGCCTGCC	0.612																																						ENST00000264828.3	1.000000	0.510000	9.100000e-01	6.200000e-01	0.760000	0.771331	0.760000	1.000000																										0				116						c.(2317-2319)ggC>ggT		collagen, type V, alpha 3							19.0	24.0	23.0					19																	10097024		2198	4297	6495	SO:0001819	synonymous_variant	50509	2	121222	31				g.chr19:10097024G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2319C>T	chr19.hg19:g.10097024G>A		1						p.G773G	NM_015719.3	NP_056534.2	1	2	3	2.408486	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)	30	2404	-			Q9NZQ6	Silent	SNP	ENST00000264828.3	1	1	hg19	c.2319C>T	CCDS12222.1	0																																																																																								0.402597		TCGA-HZ-A4BH-01A-11D-A26I-08	0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1		2	2	2	0		0	0	35		35	34	1	1.820000	-20.000000	1	0.310000	NM_015719			25	24		221	210	0		1	0		0	0	35	0		1.000000	4.343563e-01	0	0	0	14	0	25	221
KCNN1	3780	broad.mit.edu	37	19	18099263	18099263	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:18099263C>T	ENST00000222249.9	+	7	1418	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	367					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	TGTGGTGGCTCGGAAGCTGGA	0.637																																						ENST00000222249.9	1.000000	0.990000	1	9.900000e-01	0.990000	0.999986	0.990000	1.000000																										0				8						c.(1099-1101)Cgg>Tgg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	Miconazole(DB01110)|Procaine(DB00721)						41.0	45.0	44.0					19																	18099263		2203	4296	6499	SO:0001583	missense	3780	0	0					g.chr19:18099263C>T	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1099C>T	chr19.hg19:g.18099263C>T	ENSP00000476519:p.Arg367Trp	1						p.R367W	NM_002248.3	NP_002239.2	1	2	3	2.378492	Q92952	KCNN1_HUMAN		7	1418	+			Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	1	1	hg19	c.1099C>T		1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795298	0.70452	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.61	4.61	0.57282	4.61	4.61	0.57282	Ion transport 2 (1);Calmodulin-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79052	0.4381	M	0.86028	2.79	0.51482	D	0.999927	D	0.89917	1.0	D	0.85130	0.997	T	0.81927	-0.0709	9	0.87932	D	0	-29.1479	10.2569	0.43403	0.1978:0.8022:0.0:0.0	.	367	Q92952	KCNN1_HUMAN	W	384;367	.	ENSP00000222249:R384W	R	+	1	2	2	KCNN1	17960263	17960263	0.920000	0.31207	0.996000	0.52242	0.910000	0.53928	0.876000	0.28092	2.116000	0.64780	0.561000	0.74099	CGG	0.402597		TCGA-HZ-A4BH-01A-11D-A26I-08	0.637	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	1	0	1		2	2	2	0		0	0	22		22	22	1	1.820000	-20.000000	1	0.310000	NM_002248			34	33		107	102	1		1			0	0	22	0		1.000000	0	0	0	0	0	0	34	107
GRAMD1A	57655	broad.mit.edu	37	19	35500042	35500042	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:35500042C>T	ENST00000317991.5	+	2	220	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R97W|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	10						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACTCTGGCCGGAGCACGCC	0.622																																						ENST00000317991.5	0.500000	0.280000	4.500000e-01	3.300000e-01	0.380000	0.397169	0.380000	0.390000																										0				19						c.(28-30)Cgg>Tgg		GRAM domain containing 1A							48.0	59.0	55.0					19																	35500042		1986	4161	6147	SO:0001583	missense	57655	2	120926	34				g.chr19:35500042C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.28C>T	chr19.hg19:g.35500042C>T	ENSP00000441032:p.Arg10Trp	1					GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R97W|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W	p.R10W	NM_020895.3	NP_065946.2	0	1	1	1.820828	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	2	220	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	1	1	hg19	c.28C>T	CCDS42546.1	0	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944466	0.53079	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.34859	1.36;1.34	4.83	3.79	0.43588	4.83	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.43122	0.1233	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.977;0.948;0.977;0.992	T	0.45934	-0.9227	10	0.87932	D	0	.	12.3312	0.55041	0.1697:0.8302:0.0:0.0	.	10;10;10;97	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	W	97;10;10	ENSP00000441032:R10W;ENSP00000439267:R10W	ENSP00000441032:R10W	R	+	1	2	2	GRAMD1A	40191882	40191882	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.429000	0.44758	1.250000	0.43966	0.561000	0.74099	CGG	0.239250		TCGA-HZ-A4BH-01A-11D-A26I-08	0.622	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	0	0	1		2	2	2	0		0	0	112		112	110	1	1.820000	-3.075755	1	0.310000	NM_020895			47	46		655	650	0		1	1		0	0	112	0		1.000000	9.814592e-01	0	14	0	75	0	47	655
PRODH2	58510	broad.mit.edu	37	19	36302895	36302896	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302895_36302896TC>AA	ENST00000301175.3	-	5	810_811	c.793_794GA>TT	c.(793-795)GAg>TTg	p.E265L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGCCTCTCGGGGCTCAGC	0.634																																						ENST00000301175.3	0.520000|0.550000	0.200000|0.220000	4.300000e-01|4.600000e-01	2.600000e-01|2.800000e-01	0.340000|0.360000	0.354987|0.377214	0.340000|0.360000	0.340000|0.360000																										0				21						c.(793-795)gAg>gTg|c.(793-795)Gag>Tag		proline dehydrogenase (oxidase) 2																																				SO:0001583	missense	58510	0	0					g.chr19:36302895T>A|g.chr19:36302896C>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.793_794delinsAA	chr19.hg19:g.36302895_36302896delinsAA	ENSP00000301175:p.Glu265Leu	1						p.E265V|p.E265*	NM_021232.1	NP_067055.1	0	1	1	1.820828	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	5	811|810	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)			Missense_Mutation|Nonsense_Mutation	SNP	ENST00000301175.3	1|0	1	hg19	c.794A>T|c.793G>T	CCDS12478.1	0																									4.86	3.84|2.75	0.44239|0.32379																																												0			40994735|40994736														0.239250		TCGA-HZ-A4BH-01A-11D-A26I-08	0.634	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	1	0	1		2	2	2	0		0	0	67		67	67	1	1.820000	-19.012940|-3.222690	1	0.310000	NM_021232			16|17	16|17		259|257	257|255	0		1			0	0	67	0		0.999937|0.999968	0	0	0	0	0	0	16	257
PRODH2	58510	broad.mit.edu	37	19	36303115	36303115	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36303115C>A	ENST00000301175.3	-	4	676	c.659G>T	c.(658-660)gGc>gTc	p.G220V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	220					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGAGGCCCCGTGACAG	0.652																																						ENST00000301175.3	0.730000	0.410000	6.500000e-01	4.800000e-01	0.560000	0.571589	0.560000	0.560000																										0				21						c.(658-660)gGc>gTc		proline dehydrogenase (oxidase) 2							52.0	57.0	55.0					19																	36303115		2203	4299	6502	SO:0001583	missense	58510	0	0					g.chr19:36303115C>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.659G>T	chr19.hg19:g.36303115C>A	ENSP00000301175:p.Gly220Val	1						p.G220V	NM_021232.1	NP_067055.1	0	1	1	1.820828	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)	4	676	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)			Missense_Mutation	SNP	ENST00000301175.3	1	1	hg19	c.659G>T	CCDS12478.1	0	.	.	.	.	.	.	.	.	.	.	C	1.117	-0.656468	0.03480	.	.	ENSG00000250799	ENST00000301175	T	0.27557	1.66	4.85	-0.471	0.12119	4.85	-0.471	0.12119	.	.	.	.	.	T	0.21962	0.0529	L	0.51422	1.61	0.20307	N	0.999911	B	0.27625	0.183	B	0.22386	0.039	T	0.25502	-1.0130	9	0.54805	T	0.06	.	2.2746	0.04099	0.1245:0.4534:0.1295:0.2926	.	220	Q9UF12	PROD2_HUMAN	V	220	ENSP00000301175:G220V	ENSP00000301175:G220V	G	-	2	0	0	PRODH2	40994955	40994955	0.521000	0.26258	0.004000	0.12327	0.020000	0.10135	0.698000	0.25571	-0.384000	0.07845	-0.797000	0.03246	GGC	0.239250		TCGA-HZ-A4BH-01A-11D-A26I-08	0.652	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	1	0	1		2	2	2	0		0	0	75		75	75	1	1.820000	-20.000000	1	0.310000	NM_021232			42	42		393	388	0		1			0	0	75	0		1.000000	0	0	0	0	0	0	42	393
PLD3	23646	broad.mit.edu	37	19	40882579	40882579	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:40882579C>T	ENST00000409587.1	+	11	1480	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	PLD3_ENST00000409735.4_Silent_p.R361R|PLD3_ENST00000409419.1_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R|PLD3_ENST00000356508.5_Silent_p.R361R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	361					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TCAAGGTGCGCCTGCTCATCA	0.642																																						ENST00000409587.1	1.000000	0.960000	1	9.900000e-01	0.990000	0.997783	0.990000	1.000000																										0				20						c.(1081-1083)cgC>cgT		phospholipase D family, member 3							80.0	73.0	75.0					19																	40882579		2203	4300	6503	SO:0001819	synonymous_variant	23646	0	0					g.chr19:40882579C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1083C>T	chr19.hg19:g.40882579C>T		0					PLD3_ENST00000409735.4_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R|PLD3_ENST00000356508.5_Silent_p.R361R|PLD3_ENST00000409419.1_Silent_p.R361R	p.R361R			0	0	0	1.903023	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)	11	1480	+			Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	1	1	hg19	c.1083C>T	CCDS33027.1	1																																																																																								0.252033		TCGA-HZ-A4BH-01A-11D-A26I-08	0.642	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	0	0	1		2	2	2	0		0	0	90		90	89	1	1.820000	-20.000000	1	0.310000	NM_012268			79	79		316	311	1		1	1		0	0	90	0		1.000000	1	0	94	0	576	0	79	316
ERCC2	2068	broad.mit.edu	37	19	45860929	45860929	+	Silent	SNP	G	G	A	rs142702501	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:45860929G>A	ENST00000391945.4	-	13	1343	c.1266C>T	c.(1264-1266)gaC>gaT	p.D422D	ERCC2_ENST00000391944.3_Silent_p.D344D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	422					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGGTTCTGTCGTCAAAGGGCT	0.627			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				G|||	8	0.00159744	0.0045	0.0	5008	,	,		17018	0.001		0.001	False		,,,				2504	0.0					ENST00000391945.4	1.000000	0.780000	1	9.100000e-01	0.990000	0.969189	0.990000	1.000000			yes	Rec		Xeroderma pigmentosum (D)	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	19q13.2-q13.3	2068	Mis, N, F, S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""				E	E		skin basal cell, skin squamous cell, melanoma			0				9						c.(1264-1266)gaC>gaT	Nucleotide excision repair (NER)	excision repair cross-complementation group 2		G		22,4384	29.9+/-59.1	0,22,2181	135.0	126.0	129.0		1266	-1.8	1.0	19	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERCC2	NM_000400.3		0,23,6480	AA,AG,GG		0.0116,0.4993,0.1768		422/761	45860929	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	2068	41	121412	49	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	g.chr19:45860929G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1266C>T	chr19.hg19:g.45860929G>A		1					ERCC2_ENST00000391944.3_Silent_p.D344D	p.D422D	NM_000400.3	NP_000391.1	1	7	8	3.787199	P18074	ERCC2_HUMAN		13	1343	-		Ovarian(192;0.0728)|all_neural(266;0.112)	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	1	0	hg19	c.1266C>T	CCDS33049.1	1																																																																																								0.633661		TCGA-HZ-A4BH-01A-11D-A26I-08	0.627	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	1	0	1		2	2	2	0		0	0	58		58	57	1	1.820000	-13.704700	1	0.310000	NM_000400			49	49		521	517	0		1	1		0	0	58	0		1.000000	9.989058e-01	0	16	0	93	0	49	521
MAP2K7	5609	broad.mit.edu	37	19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:7976364C>T	ENST00000397979.3	+	9	1034	c.980C>T	c.(979-981)aCg>aTg	p.T327M	MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M|MAP2K7_ENST00000545011.1_Missense_Mutation_p.T369M|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						AACTGCAAGACGGACTTTGAG	0.592																																						ENST00000397979.3	1.000000	0.850000	1	9.200000e-01	0.970000	0.966691	0.970000	1.000000																										0				19						c.(979-981)aCg>aTg		mitogen-activated protein kinase kinase 7							42.0	46.0	45.0					19																	7976364		1918	4118	6036	SO:0001583	missense	5609	0	0					g.chr19:7976364C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.980C>T	chr19.hg19:g.7976364C>T	ENSP00000381066:p.Thr327Met	1					MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M|MAP2K7_ENST00000545011.1_Missense_Mutation_p.T369M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|CTD-3193O13.13_ENST00000595655.1_RNA	p.T327M	NM_145185.2	NP_660186.1	0	1	1	1.754381	O14733	MP2K7_HUMAN		9	1034	+			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	1	1	hg19	c.980C>T	CCDS42491.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819928	0.90873	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	4.85	4.85	0.62838	4.85	4.85	0.62838	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	0.85682	D	0.000000	T	0.32164	0.0820	L	0.53780	1.695	0.80722	D	1	D;D	0.61697	0.978;0.99	P;P	0.56751	0.507;0.805	T	0.02156	-1.1204	10	0.87932	D	0	-9.4511	15.8291	0.78739	0.0:1.0:0.0:0.0	.	334;327	O14733-4;O14733	.;MP2K7_HUMAN	M	334;343;369;343;327	ENSP00000381068:T334M;ENSP00000381070:T343M;ENSP00000443946:T369M;ENSP00000381066:T327M	ENSP00000381066:T327M	T	+	2	0	0	MAP2K7	7882364	7882364	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.697000	0.54764	2.675000	0.91044	0.655000	0.94253	ACG	0.184927		TCGA-HZ-A4BH-01A-11D-A26I-08	0.592	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1	1	0	1		2	2	2	0		0	0	45		45	45	1	1.820000	-20.000000	1	0.310000				53	53		157	154	1		1	1		0	0	45	0		1.000000	9.997191e-01	0	15	0	25	0	53	157
CCDC61	729440	broad.mit.edu	37	19	46506729	46506729	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46506729C>T	ENST00000595358.1	+	3	250	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CCDC61_ENST00000536603.1_Silent_p.F67F|CCDC61_ENST00000263284.2_Silent_p.F124F|CCDC61_ENST00000594087.1_Silent_p.F67F	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	67						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)		TCAACATCTTCTGTCATATGC	0.567																																						ENST00000595358.1			0	0																														0				13						c.(199-201)ttC>ttT		coiled-coil domain containing 61							46.0	48.0	47.0					19																	46506729		2050	4224	6274	SO:0001819	synonymous_variant	729440	0	0					g.chr19:46506729C>T		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.201C>T	chr19.hg19:g.46506729C>T							CCDC61_ENST00000594087.1_Silent_p.F67F|CCDC61_ENST00000536603.1_Silent_p.F67F|CCDC61_ENST00000263284.2_Silent_p.F124F	p.F67F	NM_001267723.1	NP_001254652.1					Q9Y6R9	CCD61_HUMAN		3	250	+		all_neural(266;0.113)|Ovarian(192;0.127)	C8CAP4|Q9HDB6	Silent	SNP	ENST00000595358.1	1	1	hg19	c.201C>T	CCDS46120.2																																																																																											TCGA-HZ-A4BH-01A-11D-A26I-08	0.567	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	1	0	1		2	2	2	0		0	0	24		24	24	1	1.820000	-20.000000	1	0.310000	NM_001080402			37	36		156	154	1		1	1		0	0	24	0		1.000000	9.999139e-01	0	3	0	61	0	37	156
NTNG1	22854	broad.mit.edu	37	1	107979392	107979392	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:107979392C>T	ENST00000370068.1	+	7	2207	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	454	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTGTCTGCCGGGAAATTCC	0.517																																						ENST00000370068.1	1.000000	0.700000	1	8.300000e-01	0.980000	0.935610	0.980000	1.000000																										0				37						c.(1360-1362)cCg>cTg		netrin G1							155.0	134.0	140.0					1																	107979392		1568	3582	5150	SO:0001583	missense	22854	0	0					g.chr1:107979392C>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1361C>T	chr1.hg19:g.107979392C>T	ENSP00000359085:p.Pro454Leu	0					NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000370071.2_Intron	p.P454L			1	2	3	2.068002	Q9Y2I2	NTNG1_HUMAN		7	2207	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	1	1	hg19	c.1361C>T	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274201	0.59649	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.87	5.87	0.94306	5.87	5.87	0.94306	EGF-like, laminin (3);	0.000000	0.64402	D	0.000017	T	0.64034	0.2562	M	0.84773	2.715	0.80722	D	1	D;P	0.53462	0.96;0.935	P;P	0.46940	0.532;0.449	T	0.64972	-0.6281	10	0.30078	T	0.28	.	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	420;454	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	L	454;454;420;257;201;454	ENSP00000359090:P454L;ENSP00000440561:P454L;ENSP00000359078:P420L;ENSP00000359085:P454L	ENSP00000359078:P420L	P	+	2	0	0	NTNG1	107780915	107780915	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.584000	0.60971	2.941000	0.99782	0.655000	0.94253	CCG	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.517	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	1	0	1		2	2	2	0		0	0	29		29	29	1	1.820000	-3.037354	1	0.310000	NM_014917			32	31		178	177	1		1			0	0	29	0		1.000000	0	0	0	0	0	0	32	178
PRAMEF4	400735	broad.mit.edu	37	1	12943068	12943068	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12943068G>A	ENST00000235349.5	-	2	218	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	50					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R50C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCACAGCGTCTCCTGCTG	0.607																																						ENST00000235349.5	0.670000	0.440000	6.200000e-01	4.900000e-01	0.550000	0.559210	0.550000	0.550000																										1	Substitution - Missense(1)	p.R50C(1)	endometrium(1)	24						c.(148-150)Cgc>Tgc		PRAME family member 4							43.0	50.0	48.0					1																	12943068		2174	4264	6438	SO:0001583	missense	400735	15	120658	45				g.chr1:12943068G>A		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.148C>T	chr1.hg19:g.12943068G>A	ENSP00000235349:p.Arg50Cys	0						p.R50C	NM_001009611.2	NP_001009611.1	0	1	1	1.905258	O60810	PRAM4_HUMAN		2	218	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	1	1	hg19	c.148C>T	CCDS30592.1	0	.	.	.	.	.	.	.	.	.	.	g	5.461	0.270195	0.10349	.	.	ENSG00000243073	ENST00000235349	T	0.04970	3.52	1.48	1.48	0.22813	1.48	1.48	0.22813	.	0.786987	0.11561	N	0.551731	T	0.05686	0.0149	L	0.38838	1.175	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31110	-0.9955	10	0.54805	T	0.06	.	6.4564	0.21932	0.0:0.0:1.0:0.0	.	50	O60810	PRAM4_HUMAN	C	50	ENSP00000235349:R50C	ENSP00000235349:R50C	R	-	1	0	0	PRAMEF4	12865655	12865655	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.224000	0.17738	1.137000	0.42214	0.400000	0.26472	CGC	0.250774		TCGA-HZ-A4BH-01A-11D-A26I-08	0.607	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	1	0	1		2	2	2	0		0	0	144		144	147	1	1.820000	-2.966611	1	0.310000	NM_001009611			79	56		766	560	0		1			0	0	144	0		1.000000	0	0	0	0	0	0	79	766
WDR47	22911	broad.mit.edu	37	1	109560150	109560150	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:109560150C>A	ENST00000369962.3	-	3	454	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y|WDR47_ENST00000369965.4_Missense_Mutation_p.D78Y|WDR47_ENST00000357672.3_Intron|WDR47_ENST00000361054.3_Intron			O94967	WDR47_HUMAN	WD repeat domain 47	78	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTTTTTTGTCAAATTTTTCC	0.289																																						ENST00000369962.3	1.000000	0.640000	9.800000e-01	7.400000e-01	0.850000	0.854115	0.850000	1.000000																										0				20						c.(232-234)Gac>Tac		WD repeat domain 47							62.0	68.0	66.0					1																	109560150		2203	4300	6503	SO:0001583	missense	22911	0	0					g.chr1:109560150C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.232G>T	chr1.hg19:g.109560150C>A	ENSP00000358979:p.Asp78Tyr	0					WDR47_ENST00000361054.3_Intron|WDR47_ENST00000369965.4_Missense_Mutation_p.D78Y|WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y	p.D78Y			1	2	3	2.068002	O94967	WDR47_HUMAN		3	454	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	0	1	hg19	c.232G>T	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564866	0.86439	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000529074;ENST00000528747	T;T;T	0.60171	0.23;0.25;0.21	5.97	5.97	0.96955	5.97	5.97	0.96955	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.72510	-0.4271	10	0.87932	D	0	-14.641	20.4239	0.99064	0.0:1.0:0.0:0.0	.	78;78;78	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	Y	78;78;78;78;5;78	ENSP00000383599:D78Y;ENSP00000358979:D78Y;ENSP00000358982:D78Y	ENSP00000358979:D78Y	D	-	1	0	0	WDR47	109361673	109361673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.466000	0.80914	2.828000	0.97474	0.655000	0.94253	GAC	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.289	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	1	0	1		2	2	2	0		0	0	20		20	20	1	1.820000	-3.318982	1	0.310000	NM_014969			47	47		310	307	1		1	0		0	0	20	0		1.000000	2.914210e-01	0	1	0	7	0	47	310
KDM5B	10765	broad.mit.edu	37	1	202714993	202714993	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:202714993C>T	ENST00000367265.3	-	16	3480	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K	KDM5B_ENST00000367264.2_Silent_p.K808K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	772					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TACTTTTCTTCTTGTTGATCT	0.383																																						ENST00000367265.3	1.000000	0.420000	1	4.800000e-01	0.550000	0.644935	0.550000	0.530000																										0				6						c.(2314-2316)aaG>aaA		lysine (K)-specific demethylase 5B							163.0	150.0	155.0					1																	202714993		2203	4300	6503	SO:0001819	synonymous_variant	10765	0	0					g.chr1:202714993C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2316G>A	chr1.hg19:g.202714993C>T		1					KDM5B_ENST00000367264.2_Silent_p.K808K	p.K772K	NM_006618.3	NP_006609.3	0	2	2	2.041686	Q9UGL1	KDM5B_HUMAN		16	3480	-			O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	1	1	hg19	c.2316G>A	CCDS30974.1	0																																																																																								0.310000		TCGA-HZ-A4BH-01A-11D-A26I-08	0.383	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1		2	2	2	0		0	0	81		81	81	1	1.820000	-16.528350	1	0.310000	NM_006618			73	73		813	805	0		1	1		0	0	81	0		1.000000	8.689619e-01	0	7	0	35	0	73	813
DISC1	27185	broad.mit.edu	37	1	231830151	231830151	+	Missense_Mutation	SNP	C	C	T	rs139420445	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231830151C>T	ENST00000602281.1	+	2	700	c.647C>T	c.(646-648)tCg>tTg	p.S216L	DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000439617.2_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366637.3_5'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	216	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTCGGCTCTCGCTTGGCTCT	0.607																																						ENST00000602281.1	0.730000	0.360000	6.300000e-01	4.300000e-01	0.520000	0.540927	0.520000	0.520000																										0				15						c.(646-648)tCg>tTg		disrupted in schizophrenia 1		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,,LEU/SER	3,4403	6.2+/-15.9	0,3,2200	49.0	47.0	48.0		647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,647,,647	3.7	0.1	1	dbSNP_134	48	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,intron,missense	DISC1	NM_001012957.1,NM_001012958.1,NM_001012959.1,NM_001164537.1,NM_001164538.1,NM_001164539.1,NM_001164540.1,NM_001164541.1,NM_001164542.1,NM_001164544.1,NM_001164545.1,NM_001164546.1,NM_001164547.1,NM_001164548.1,NM_001164549.1,NM_001164550.1,NM_001164551.1,NM_001164552.1,NM_001164553.1,NM_001164554.1,NM_001164555.1,NM_001164556.1,NM_018662.2	145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,145,,145	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	216/833,216/370,216/679,216/887,216/804,216/756,216/733,216/696,216/682,216/663,216/580,216/560,216/560,216/552,216/548,216/430,216/424,216/388,216/388,216/376,216/357,,216/855	231830151	3,13003	2203	4300	6503	SO:0001583	missense	27185	7	121412	42				g.chr1:231830151C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.647C>T	chr1.hg19:g.231830151C>T	ENSP00000473425:p.Ser216Leu	1					TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L	p.S216L	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	1	2	3	2.382850	Q9NRI5	DISC1_HUMAN		2	700	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	1	1	hg19	c.647C>T	CCDS59205.1	0	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314498	0.40996	6.81E-4	0.0	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.61	3.69	0.42338	4.61	3.69	0.42338	.	0.354936	0.29900	N	0.010911	T	0.49406	0.1555	L	0.59436	1.845	0.28799	N	0.898879	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.846;0.998;0.998;0.997;0.998;0.999;0.998;0.998;0.998;0.998;0.933;0.997;0.997;0.998;0.998;0.997;0.997;0.998;0.997;0.997;0.933	T	0.45934	-0.9227	10	0.87932	D	0	-6.3648	11.6928	0.51525	0.0:0.8064:0.1936:0.0	.	216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	L	216;216;216;216;216;216;216;216;216;216;216;216;67	ENSP00000403888:S216L;ENSP00000320784:S216L;ENSP00000355596:S216L;ENSP00000443996:S216L;ENSP00000440909:S216L;ENSP00000355593:S216L;ENSP00000440953:S216L;ENSP00000295051:S216L;ENSP00000441193:S216L	ENSP00000295051:S216L	S	+	2	0	0	DISC1	229896774	229896774	0.940000	0.31905	0.056000	0.19401	0.071000	0.16799	2.506000	0.45433	1.127000	0.42034	0.561000	0.74099	TCG	0.402597		TCGA-HZ-A4BH-01A-11D-A26I-08	0.607	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	1	0	1		2	2	2	0		0	0	75		75	74	1	1.820000	-3.318792	1	0.310000	NM_018662			28	28		368	365	0		1	0		0	0	75	0		1.000000	2.943613e-02	0	0	0	4	0	28	368
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:241799053G>A	ENST00000366553.1	-	1	179	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	6					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433																																						ENST00000366553.1	0.630000	0.330000	5.500000e-01	3.900000e-01	0.460000	0.477760	0.460000	0.460000																										0				26						c.(16-18)Ccc>Tcc		choroideremia-like (Rab escort protein 2)							57.0	60.0	59.0					1																	241799053		2202	4300	6502	SO:0001583	missense	1122	0	0					g.chr1:241799053G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.16C>T	chr1.hg19:g.241799053G>A	ENSP00000355511:p.Pro6Ser	1					OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	p.P6S	NM_001821.3	NP_001812.2	1	2	3	2.382850	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)	1	179	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	1	1	hg19	c.16C>T	CCDS31073.1	0	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674542	0.47781	.	.	ENSG00000203668	ENST00000366553	T	0.59224	0.28	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	T	0.74816	0.3766	.	.	.	0.41587	D	0.988775	D	0.89917	1.0	D	0.97110	1.0	T	0.76405	-0.2971	9	0.59425	D	0.04	-8.0953	14.3144	0.66437	0.0:0.0:1.0:0.0	.	6	P26374	RAE2_HUMAN	S	6	ENSP00000355511:P6S	ENSP00000355511:P6S	P	-	1	0	0	CHML	239865676	239865676	1.000000	0.71417	0.959000	0.39883	0.543000	0.35085	4.210000	0.58500	2.840000	0.97914	0.655000	0.94253	CCC	0.402597		TCGA-HZ-A4BH-01A-11D-A26I-08	0.433	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	1	0	1		2	2	2	0		0	0	38		38	37	1	1.820000	-7.981680	1	0.310000	NM_001821			35	33		523	516	0		1	0		0	0	38	0		1.000000	3.223040e-01	0	1	0	17	0	35	523
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	G	A	rs561459140		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:35227279G>A	ENST00000339480.1	+	2	794	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	142					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.0					ENST00000339480.1	1.000000	0.710000	1	8.200000e-01	0.940000	0.925772	0.940000	1.000000																										0				16						c.(424-426)Gat>Aat		gap junction protein, beta 4, 30.3kDa							80.0	62.0	68.0					1																	35227279		2203	4300	6503	SO:0001583	missense	127534	2	121412	29				g.chr1:35227279G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.424G>A	chr1.hg19:g.35227279G>A	ENSP00000345868:p.Asp142Asn	1					RP1-34M23.5_ENST00000542839.1_RNA	p.D142N	NM_153212.2	NP_694944.1	0	1	1	1.899383	Q9NTQ9	CXB4_HUMAN		2	794	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	1	1	hg19	c.424G>A	CCDS383.1	1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436444	0.62955	.	.	ENSG00000189433	ENST00000339480	D	0.95724	-3.79	5.73	4.82	0.62117	5.73	4.82	0.62117	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	M	0.81112	2.525	0.47153	D	0.999335	D	0.76494	0.999	D	0.73708	0.981	D	0.98052	1.0388	10	0.87932	D	0	.	14.4153	0.67145	0.0715:0.0:0.9285:0.0	.	142	Q9NTQ9	CXB4_HUMAN	N	142	ENSP00000345868:D142N	ENSP00000345868:D142N	D	+	1	0	0	GJB4	34999866	34999866	1.000000	0.71417	0.136000	0.22124	0.034000	0.12701	7.966000	0.87956	1.440000	0.47531	0.655000	0.94253	GAT	0.252033		TCGA-HZ-A4BH-01A-11D-A26I-08	0.612	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	1	0	1		2	2	2	0		0	0	50		50	50	1	1.820000	-20.000000	1	0.310000	NM_153212			47	44		246	243	0		1	1		0	0	50	0		1.000000	9.999922e-01	0	53	0	42	0	47	246
ERICH3	127254	broad.mit.edu	37	1	75036840	75036840	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:75036840G>A	ENST00000326665.5	-	14	4772	c.4554C>T	c.(4552-4554)agC>agT	p.S1518S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1518										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCAGTCTCGCTTTCTCCTT	0.493																																						ENST00000326665.5	0.250000	0.110000	2.200000e-01	1.400000e-01	0.170000	0.181427	0.170000	0.170000																										0				184						c.(4552-4554)agC>agT									187.0	182.0	184.0					1																	75036840		2203	4300	6503	SO:0001819	synonymous_variant	0	0	0					g.chr1:75036840G>A																												ENST00000326665.5:c.4554C>T	chr1.hg19:g.75036840G>A		0					C1orf173_ENST00000433746.2_5'UTR	p.S1518S	NM_001002912.4	NP_001002912.4	0	1	1	1.935132	Q5RHP9	ERIC3_HUMAN		14	4772	-			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	1	1	hg19	c.4554C>T	CCDS30755.1	0																																																																																								0.263175		TCGA-HZ-A4BH-01A-11D-A26I-08	0.493	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	0	0	1		2	2	2	0		0	0	131		131	131	1	1.820000	-2.827852	1	0.310000				25	25		836	832	0		1			0	0	131	0		1.000000	0	0	0	0	0	0	25	836
EXO1	9156	broad.mit.edu	37	1	242030320	242030320	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:242030320C>T	ENST00000366548.3	+	11	1823	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	EXO1_ENST00000348581.5_Silent_p.L410L|EXO1_ENST00000518483.1_Silent_p.L410L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	410	Interaction with MLH1.		L -> R (abrogates exonuclease activity). {ECO:0000269|PubMed:11375940, ECO:0000269|PubMed:12517792}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTAAATCTCCCAAGGAAAT	0.408								Editing and processing nucleases																														ENST00000366548.3	0.440000	0.130000	3.600000e-01	1.900000e-01	0.260000	0.282525	0.260000	0.270000																										0				45						c.(1228-1230)ctC>ctT	Editing and processing nucleases	exonuclease 1							68.0	63.0	65.0					1																	242030320		2203	4300	6503	SO:0001819	synonymous_variant	9156	0	0					g.chr1:242030320C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1230C>T	chr1.hg19:g.242030320C>T		1					EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L	p.L410L	NM_130398.3	NP_569082.2	1	2	3	2.382850	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)	11	1823	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	0	1	hg19	c.1230C>T	CCDS1620.1	0																																																																																								0.402597		TCGA-HZ-A4BH-01A-11D-A26I-08	0.408	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	0	0	1		2	2	2	0		0	0	39		39	39	1	1.820000	-11.734300	1	0.310000	NM_006027			11	11		302	298	0		1	0		0	0	39	0		0.998292	6.594001e-02	0	0	0	11	0	11	302
BAGE2	85319	broad.mit.edu	37	21	11058247	11058247	+	RNA	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr21:11058247G>A	ENST00000470054.1	-	0	400							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCAGCACAAGGATAATGATA	0.433																																						ENST00000470054.1	0.400000	0.170000	3.400000e-01	2.100000e-01	0.270000	0.282584	0.270000	0.270000																										0												B melanoma antigen family, member 2							81.0	67.0	71.0					21																	11058247		692	1591	2283			85319	0	0					g.chr21:11058247G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		chr21.hg19:g.11058247G>A		1									0	3	3	1.976330	Q86Y30	BAGE2_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	0	400	-			A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	0	1	hg19			0																																																																																								0.402597		TCGA-HZ-A4BH-01A-11D-A26I-08	0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	0	1		22	2	12	1		1	1	68		68	87	1	1.820000	-2.676343	1	0.310000	NM_182482			22	20		581	567	0		0		0	1	12	68	432		0.522537	0	9.782009e-02	0	7	0	188	22	581
CLTCL1	8218	broad.mit.edu	37	22	19184149	19184149	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:19184149C>T	ENST00000263200.10	-	25	3964	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1298	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGATCAGCTCCTCAAAGTAG	0.612			T	?	ALCL																																	ENST00000263200.10	0.760000	0.220000	6.100000e-01	3.200000e-01	0.450000	0.472892	0.450000	0.430000				Dom	yes			Dom	yes		22	22q11.21	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""				L	L	?		ALCL		0				49						c.(3892-3894)Gag>Aag		clathrin, heavy chain-like 1							24.0	28.0	27.0					22																	19184149		2139	4248	6387	SO:0001583	missense	8218	0	0					g.chr22:19184149C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3892G>A	chr22.hg19:g.19184149C>T	ENSP00000445677:p.Glu1298Lys	0					CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K	p.E1298K	NM_007098.3	NP_009029.3	0	1	1	1.912810	P53675	CLH2_HUMAN		25	3964	-	Colorectal(54;0.0993)		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	0	1	hg19	c.3892G>A	CCDS46662.1	0	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921732	0.73213	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.35048	1.33;1.33;1.33	3.5	3.5	0.40072	3.5	3.5	0.40072	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.67126	0.2860	M	0.93106	3.38	0.80722	D	1	P;D;P;P	0.59767	0.528;0.986;0.882;0.745	P;D;P;P	0.70016	0.628;0.967;0.852;0.677	T	0.78370	-0.2230	10	0.87932	D	0	-16.3906	15.1691	0.72854	0.0:1.0:0.0:0.0	.	1298;121;121;1298	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	K	1298	ENSP00000439662:E1298K;ENSP00000445677:E1298K;ENSP00000441158:E1298K	ENSP00000445677:E1298K	E	-	1	0	0	CLTCL1	17564149	17564149	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.268000	0.65536	1.802000	0.52723	0.491000	0.48974	GAG	0.253287		TCGA-HZ-A4BH-01A-11D-A26I-08	0.612	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	1	0	1		2	2	2	0		0	0	12		12	12	1	1.820000	-13.966830	1	0.310000	NM_007098			9	9		112	111	0		1	0		0	0	12	0		0.994590	5.931435e-02	0	0	0	5	0	9	112
CCDC116	164592	broad.mit.edu	37	22	21991276	21991276	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:21991276G>T	ENST00000292779.3	+	5	1920	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGAGGGCCGTGATAAAGCCGA	0.557																																						ENST00000292779.3	0.580000	0.290000	5.100000e-01	3.500000e-01	0.420000	0.437211	0.420000	0.420000																										0				22						c.(1759-1761)Gat>Tat		coiled-coil domain containing 116							62.0	55.0	57.0					22																	21991276		2203	4300	6503	SO:0001583	missense	164592	0	0					g.chr22:21991276G>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1759G>T	chr22.hg19:g.21991276G>T	ENSP00000292779:p.Asp587Tyr	0						p.D587Y	NM_152612.2	NP_689825.2	0	1	1	1.912810	Q8IYX3	CC116_HUMAN		5	1920	+	Colorectal(54;0.105)		Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	1	1	hg19	c.1759G>T	CCDS13791.1	0	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360852	0.24598	.	.	ENSG00000161180	ENST00000292779	T	0.12255	2.7	3.35	2.3	0.28687	3.35	2.3	0.28687	.	3.410210	0.00674	N	0.000657	T	0.25195	0.0612	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.52217	0.693	T	0.13602	-1.0503	9	0.62326	D	0.03	-3.8567	8.4003	0.32581	0.0:0.2736:0.7264:0.0	.	587	Q8IYX3-2	.	Y	587	ENSP00000292779:D587Y	ENSP00000292779:D587Y	D	+	1	0	0	CCDC116	20321276	20321276	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	1.152000	0.31663	0.706000	0.31912	0.491000	0.48974	GAT	0.253287		TCGA-HZ-A4BH-01A-11D-A26I-08	0.557	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	1	0	1		2	2	2	0		0	0	74		74	72	1	1.820000	-8.777760	1	0.310000	NM_152612			32	32		413	409	0		1			0	0	74	0		1.000000	0	0	0	0	0	0	32	413
KCNJ4	3761	broad.mit.edu	37	22	38823340	38823340	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:38823340G>A	ENST00000303592.3	-	2	1056	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	266					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTGTCCTCGTCGATCTCGT	0.607																																						ENST00000303592.3	0.700000	0.310000	6.000000e-01	3.900000e-01	0.490000	0.502433	0.490000	0.490000																										0				23						c.(796-798)gaC>gaT		potassium inwardly-rectifying channel, subfamily J, member 4							93.0	77.0	83.0					22																	38823340		2203	4300	6503	SO:0001819	synonymous_variant	3761	4	121412	38				g.chr22:38823340G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.798C>T	chr22.hg19:g.38823340G>A		1					RP3-434P1.6_ENST00000433230.1_RNA	p.D266D	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	0	1	1	1.894235	P48050	KCNJ4_HUMAN		2	1056	-	Melanoma(58;0.0286)		Q14D44	Silent	SNP	ENST00000303592.3	1	1	hg19	c.798C>T	CCDS13971.1	0																																																																																								0.248243		TCGA-HZ-A4BH-01A-11D-A26I-08	0.607	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	1	0	1		2	2	2	0		0	0	48		48	48	1	1.820000	-20.000000	1	0.310000	NM_004981			22	22		244	243	0		1			0	0	48	0		0.999999	0	0	0	0	0	0	22	244
TPO	7173	broad.mit.edu	37	2	1520713	1520713	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:1520713C>T	ENST00000345913.4	+	15	2668	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TPO_ENST00000346956.3_Silent_p.I815I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000382201.3_Silent_p.I802I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000349624.3_Silent_p.I686I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	859					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCTGATCGGAGGCTTCG	0.547																																						ENST00000345913.4	0.860000	0.410000	7.500000e-01	5.100000e-01	0.620000	0.633629	0.620000	0.620000																										0				95						c.(2575-2577)atC>atT		thyroid peroxidase	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)						75.0	72.0	73.0					2																	1520713		2203	4300	6503	SO:0001819	synonymous_variant	7173	4	121402	38				g.chr2:1520713C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2577C>T	chr2.hg19:g.1520713C>T		0					TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000382201.3_Silent_p.I802I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000346956.3_Silent_p.I815I	p.I859I	NM_000547.5	NP_000538.3	0	1	1	2.053131	P07202	PERT_HUMAN		15	2668	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	1	1	hg19	c.2577C>T	CCDS1643.1	0	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099164	0.01843	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.52	-5.29	0.02747	5.52	-5.29	0.02747	.	.	.	.	.	T	0.26702	0.0653	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-27.4266	6.7432	0.23447	0.0:0.3461:0.3029:0.3509	.	.	.	.	L	334	.	.	S	+	2	0	0	TPO	1499720	1499720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.732000	0.00804	-1.770000	0.01295	-0.904000	0.02843	TCG	0.308929		TCGA-HZ-A4BH-01A-11D-A26I-08	0.547	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1		2	2	2	0		0	0	43		43	43	1	1.820000	-3.318795	1	0.310000	NM_000547			25	25		235	235	1		1			0	0	43	0		1.000000	0	0	0	0	0	0	25	235
KCNS3	3790	broad.mit.edu	37	2	18112314	18112314	+	Silent	SNP	C	C	T	rs35186900	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:18112314C>T	ENST00000403915.1	+	3	490	c.39C>T	c.(37-39)gaC>gaT	p.D13D	KCNS3_ENST00000304101.4_Silent_p.D13D|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	13					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGACAAGACGAGGAACTTG	0.537													C|||	60	0.0119808	0.0121	0.013	5008	,	,		19239	0.0		0.0278	False		,,,				2504	0.0072					ENST00000403915.1	1.000000	0.730000	1	8.200000e-01	0.920000	0.919127	0.920000	1.000000																										0				32						c.(37-39)gaC>gaT		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3		C		61,4345	58.1+/-94.6	0,61,2142	94.0	92.0	93.0		39	-5.6	0.9	2	dbSNP_126	93	269,8331	104.4+/-165.4	5,259,4036	yes	coding-synonymous	KCNS3	NM_002252.3		5,320,6178	TT,TC,CC		3.1279,1.3845,2.5373		13/492	18112314	330,12676	2203	4300	6503	SO:0001819	synonymous_variant	3790	2842	121412	67				g.chr2:18112314C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.39C>T	chr2.hg19:g.18112314C>T		0					KCNS3_ENST00000304101.4_Silent_p.D13D|KCNS3_ENST00000465292.1_Intron	p.D13D	NM_001282428.1	NP_001269357.1	0	1	1	2.053131	Q9BQ31	KCNS3_HUMAN		3	490	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	ENST00000403915.1	1	0	hg19	c.39C>T	CCDS1692.1	1																																																																																								0.308929		TCGA-HZ-A4BH-01A-11D-A26I-08	0.537	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	0	0	1		2	2	2	0		0	0	54		54	54	1	1.820000	-3.047587	1	0.310000	NM_002252			69	68		408	404	1		1	1		0	0	54	0		1.000000	6.622274e-01	0	2	0	13	0	69	408
IL1RN	3557	broad.mit.edu	37	2	113885304	113885304	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:113885304A>T	ENST00000409930.3	+	1	167	c.103A>T	c.(103-105)Atg>Ttg	p.M35L	IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L|IL1RN_ENST00000259206.5_Missense_Mutation_p.M38L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	35					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	ATCCAGCAAGATGCAAGCCTT	0.562									Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000409930.3	0.990000	0.520000	8.400000e-01	6.100000e-01	0.720000	0.733196	0.720000	0.710000																										0				10						c.(103-105)Atg>Ttg		interleukin 1 receptor antagonist	Rilonacept(DB06372)						72.0	67.0	69.0					2																	113885304		2203	4300	6503	SO:0001583	missense	3557	0	0		Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	g.chr2:113885304A>T	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.103A>T	chr2.hg19:g.113885304A>T	ENSP00000387173:p.Met35Leu	0					IL1RN_ENST00000259206.5_Missense_Mutation_p.M38L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L	p.M35L	NM_173842.2	NP_776214.1	1	2	3	2.064020	P18510	IL1RA_HUMAN		1	167	+			A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	1	1	hg19	c.103A>T	CCDS46396.1	0	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878314	0.51801	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.35973	1.28;1.28;3.02;3.02;3.02	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.361602	0.37809	N	0.001934	T	0.34919	0.0914	M	0.63428	1.95	0.33072	D	0.535518	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.42649	-0.9439	10	0.27785	T	0.31	-24.0838	11.8146	0.52202	1.0:0.0:0.0:0.0	.	35;17;38	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	L	1;1;38;17;35	ENSP00000387210:M1L;ENSP00000354816:M1L;ENSP00000259206:M38L;ENSP00000329072:M17L;ENSP00000387173:M35L	ENSP00000259206:M38L	M	+	1	0	0	IL1RN	113601775	113601775	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.129000	0.57957	2.104000	0.64026	0.533000	0.62120	ATG	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.562	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	1	0	1		2	2	2	0		0	0	55		55	55	1	1.820000	-20.000000	1	0.310000	NM_173841			38	38		303	299	1		1	1		0	0	55	0		1.000000	9.999985e-01	0	61	0	104	0	38	303
DYSF	8291	broad.mit.edu	37	2	71741003	71741003	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:71741003T>A	ENST00000258104.3	+	6	892	c.615T>A	c.(613-615)agT>agA	p.S205R	DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	205					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAAGCGAAGTGCGCCTACAT	0.582																																						ENST00000258104.3	0.610000	0.220000	4.800000e-01	2.900000e-01	0.380000	0.396573	0.380000	0.370000																										0				111						c.(613-615)agT>agA		dysferlin							55.0	57.0	57.0					2																	71741003		2203	4300	6503	SO:0001583	missense	8291	0	0					g.chr2:71741003T>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.615T>A	chr2.hg19:g.71741003T>A	ENSP00000258104:p.Ser205Arg	0					DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R|DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R	p.S205R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	1	2	3	2.064020	O75923	DYSF_HUMAN		6	892	+			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	1	1	hg19	c.615T>A	CCDS1918.1	0	.	.	.	.	.	.	.	.	.	.	T	0.964	-0.702308	0.03255	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.68;-1.67;-1.68;-1.67;-1.67;-1.67;-1.68;-1.68	4.79	0.606	0.17559	4.79	0.606	0.17559	.	0.256158	0.39475	N	0.001360	T	0.67590	0.2909	N	0.16478	0.41	0.20307	N	0.999918	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19445	0.036;0.036;0.036;0.02;0.0;0.0;0.0;0.0;0.036;0.0;0.02;0.02;0.036;0.012	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31290	0.127;0.127;0.127;0.088;0.003;0.001;0.003;0.005;0.127;0.002;0.088;0.127;0.127;0.06	T	0.52756	-0.8533	10	0.17832	T	0.49	-14.3939	7.9678	0.30109	0.0:0.5926:0.0:0.4074	.	237;237;206;206;237;206;236;205;236;236;205;205;206;205	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	236;236;236;205;205;237;206;206;206;237;237	ENSP00000407046:S236R;ENSP00000387137:S236R;ENSP00000386547:S236R;ENSP00000398305:S205R;ENSP00000258104:S205R;ENSP00000386683:S237R;ENSP00000377678:S206R;ENSP00000386285:S206R;ENSP00000386512:S206R;ENSP00000386881:S237R;ENSP00000386617:S237R	ENSP00000258104:S205R	S	+	3	2	2	DYSF	71594511	71594511	0.086000	0.21541	0.034000	0.17996	0.020000	0.10135	0.392000	0.20801	-0.114000	0.11936	-0.384000	0.06662	AGT	0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	1	0	1		2	2	2	0		0	0	63		63	63	1	1.820000	-19.652540	1	0.310000	NM_003494			17	16		277	269	0		1	0		0	0	63	0		0.999960	4.870360e-02	0	0	0	6	0	17	277
NBEAL1	65065	broad.mit.edu	37	2	204009874	204009874	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204009874C>T	ENST00000449802.1	+	32	5541	c.5208C>T	c.(5206-5208)ctC>ctT	p.L1736L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1736										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGCAAGCTCAAATTTCAGG	0.333																																						ENST00000449802.1	0.570000	0.230000	4.600000e-01	2.900000e-01	0.370000	0.387534	0.370000	0.370000																										0				37						c.(5206-5208)ctC>ctT		neurobeachin-like 1							100.0	94.0	96.0					2																	204009874		1817	4072	5889	SO:0001819	synonymous_variant	65065	0	0					g.chr2:204009874C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5208C>T	chr2.hg19:g.204009874C>T		0						p.L1736L	NM_001114132.1	NP_001107604.1	1	2	3	2.064020	Q6ZS30	NBEL1_HUMAN		32	5541	+			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	0	1	hg19	c.5208C>T	CCDS46495.1	0																																																																																								0.312132		TCGA-HZ-A4BH-01A-11D-A26I-08	0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	1		2	2	2	0		0	0	21		21	21	1	1.820000	-5.024666	1	0.310000				21	21		348	344	0		1	0		0	0	21	0		0.999997	0	0	0	0	1	0	21	348
RYBP	23429	broad.mit.edu	37	3	72427709	72427709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:72427709C>T	ENST00000477973.2	-	4	778	c.779G>A	c.(778-780)aGa>aAa	p.R260K		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTTAAAGTCTGTGATAATG	0.552																																						ENST00000477973.2	1.000000	0.790000	1	9.100000e-01	0.990000	0.969222	0.990000	1.000000																										0				2						c.(778-780)aGa>aAa		RING1 and YY1 binding protein							128.0	124.0	126.0					3																	72427709		2119	4236	6355	SO:0001583	missense	23429	0	0					g.chr3:72427709C>T	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.779G>A	chr3.hg19:g.72427709C>T	ENSP00000419494:p.Arg260Lys	0						p.R260K	NM_012234.5	NP_036366.3	0	0	0	2.035354	Q8N488	RYBP_HUMAN		4	778	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	0	1	hg19	c.779G>A		1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834301	0.91036	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	.	.	.	.	T	0.79482	0.4453	M	0.66939	2.045	.	.	.	.	.	.	.	.	.	T	0.75534	-0.3284	4	.	.	.	-15.2615	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	K	260	.	.	R	-	2	0	0	RYBP	72510399	72510399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	AGA	0.301337		TCGA-HZ-A4BH-01A-11D-A26I-08	0.552	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	1	0	1		2	2	2	0		0	0	51		51	51	1	1.820000	-20.000000	1	0.310000	NM_012234			47	47		238	236	1		1	1		0	0	51	0		1.000000	9.974967e-01	0	8	0	41	0	47	238
GPR15	2838	broad.mit.edu	37	3	98251438	98251438	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:98251438G>C	ENST00000284311.3	+	1	696	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	187					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.K187N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAGAAAAAGGCAACTCCAA	0.473																																						ENST00000284311.3	0.550000	0.310000	4.900000e-01	3.600000e-01	0.420000	0.433359	0.420000	0.430000																										1	Substitution - Missense(1)	p.K187N(1)	lung(1)	19						c.(559-561)aaG>aaC		G protein-coupled receptor 15							149.0	135.0	140.0					3																	98251438		2203	4300	6503	SO:0001583	missense	2838	0	0					g.chr3:98251438G>C		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.561G>C	chr3.hg19:g.98251438G>C	ENSP00000284311:p.Lys187Asn	0						p.K187N	NM_005290.1	NP_005281.1	0	0	0	2.035354	P49685	GPR15_HUMAN		1	696	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	1	1	hg19	c.561G>C	CCDS2931.1	0	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.809317	0.00606	.	.	ENSG00000154165	ENST00000284311	T	0.39592	1.07	4.74	-5.96	0.02234	4.74	-5.96	0.02234	GPCR, rhodopsin-like superfamily (1);	1.101080	0.06952	N	0.814708	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B	0.26147	0.143	B	0.24394	0.053	T	0.22765	-1.0207	10	0.27082	T	0.32	-0.0397	10.5559	0.45117	0.7354:0.1051:0.1594:0.0	.	187	P49685	GPR15_HUMAN	N	187	ENSP00000284311:K187N	ENSP00000284311:K187N	K	+	3	2	2	GPR15	99734128	99734128	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.676000	0.01946	-1.282000	0.02396	-0.982000	0.02568	AAG	0.301337		TCGA-HZ-A4BH-01A-11D-A26I-08	0.473	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1	1	0	1		2	2	2	0		0	0	53		53	52	1	1.820000	-9.421888	1	0.310000				45	45		627	622	0		1			0	0	53	0		1.000000	0	0	0	0	0	0	45	627
MYLK	4638	broad.mit.edu	37	3	123383037	123383037	+	Silent	SNP	C	C	T	rs563116446		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:123383037C>T	ENST00000475616.1	-	20	3899	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000360772.3_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Silent_p.A1300A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19042	0.0		0.001	False		,,,				2504	0.0					ENST00000475616.1	0.570000	0.390000	5.300000e-01	4.300000e-01	0.480000	0.488988	0.480000	0.480000																										0				113						c.(3898-3900)gcG>gcA		myosin light chain kinase							136.0	130.0	132.0					3																	123383037		2203	4300	6503	SO:0001819	synonymous_variant	4638	7	121412	43				g.chr3:123383037C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3900G>A	chr3.hg19:g.123383037C>T		0					MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000360772.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A|MYLK_ENST00000360304.3_Silent_p.A1300A	p.A1300A			0	0	0	2.035354	Q15746	MYLK_HUMAN		20	3899	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	1	1	hg19	c.3900G>A	CCDS46896.1	0																																																																																								0.301337		TCGA-HZ-A4BH-01A-11D-A26I-08	0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		2	2	2	0		0	0	225		225	218	1	1.820000	-19.949160	1	0.310000	NM_053025			109	108		1320	1305	0		1	0		0	0	225	0		1.000000	9.360167e-01	0	0	0	57	0	109	1320
SEPSECS	51091	broad.mit.edu	37	4	25158572	25158572	+	Silent	SNP	G	G	A	rs377253617		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:25158572G>A	ENST00000382103.2	-	3	366	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SEPSECS_ENST00000302922.3_Silent_p.S19S	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	98	Phosphate loop (P-loop).			S -> P (in Ref. 8; AAG00491). {ECO:0000305}.	selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AAATATCACCGGATCGTCCAA	0.398																																						ENST00000382103.2	1.000000	0.870000	1	9.700000e-01	0.990000	0.988114	0.990000	1.000000																										0				8						c.(292-294)tcC>tcT		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase		G		1,4405	2.1+/-5.4	0,1,2202	96.0	95.0	95.0		294	-10.2	0.4	4		95	1,8599		0,1,4299	no	coding-synonymous	SEPSECS	NM_016955.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		98/502	25158572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51091	6	121412	40				g.chr4:25158572G>A	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.294C>T	chr4.hg19:g.25158572G>A		0					SEPSECS_ENST00000302922.3_Silent_p.S19S	p.S98S	NM_016955.3	NP_058651.3	1	2	3	2.082443	Q9HD40	SPCS_HUMAN		3	366	-		Breast(46;0.173)	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	1	1	hg19	c.294C>T	CCDS3432.2	1																																																																																								0.315306		TCGA-HZ-A4BH-01A-11D-A26I-08	0.398	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	1	0	1		2	2	2	0		0	0	54		54	54	1	1.820000	-2.825206	1	0.310000	NM_016955			77	77		383	378	1		1	0		0	0	54	0		1.000000	2.688507e-01	0	1	0	5	0	77	383
PCDH18	54510	broad.mit.edu	37	4	138451227	138451227	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:138451227C>T	ENST00000344876.4	-	1	2402	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.L452L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	672	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCATGCACTTCAGAAGGACTT	0.423																																						ENST00000344876.4	0.550000	0.360000	5.100000e-01	4.000000e-01	0.450000	0.462449	0.450000	0.460000																										0				86						c.(2014-2016)ctG>ctA		protocadherin 18							169.0	159.0	163.0					4																	138451227		2203	4300	6503	SO:0001819	synonymous_variant	54510	0	0					g.chr4:138451227C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2016G>A	chr4.hg19:g.138451227C>T		1					PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000510305.1_Intron	p.L672L	NM_019035.3	NP_061908.1	0	1	1	1.789989	Q9HCL0	PCD18_HUMAN		1	2402	-	all_hematologic(180;0.24)		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	1	1	hg19	c.2016G>A	CCDS34064.1	0																																																																																								0.184927		TCGA-HZ-A4BH-01A-11D-A26I-08	0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1		2	2	2	0		0	0	139		139	139	1	1.820000	-18.466390	1	0.310000	NM_019035			81	81		881	877	0		1	0		0	0	139	0		1.000000	2.072071e-01	0	0	0	10	0	81	881
PCDHA3	56145	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617																																						ENST00000522353.2	0.470000	0.280000	4.300000e-01	3.200000e-01	0.370000	0.382412	0.370000	0.380000																										0				95						c.(193-195)Cgg>Tgg		protocadherin alpha 3							57.0	70.0	66.0					5																	140180975		2203	4294	6497	SO:0001583	missense	56145	0	0					g.chr5:140180975C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.193C>T	chr5.hg19:g.140180975C>T	ENSP00000429808:p.Arg65Trp	0					PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.R65W	NM_018906.2	NP_061729.1	0	0	0	1.973607	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	193	+			O75286	Missense_Mutation	SNP	ENST00000522353.2	1	1	hg19	c.193C>T	CCDS54915.1	0	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980912	0.74474	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	3.58	0.41010	4.48	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37955	U	0.001876	T	0.78130	0.4235	H	0.99117	4.435	0.40488	D	0.980514	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.87025	0.2131	10	0.87932	D	0	.	13.635	0.62217	0.1614:0.8386:0.0:0.0	.	65;65	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	65	ENSP00000429808:R65W;ENSP00000434086:R65W	ENSP00000429808:R65W	R	+	1	2	2	PCDHA3	140161159	140161159	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.208000	0.51114	0.963000	0.38082	0.586000	0.80456	CGG	0.278695		TCGA-HZ-A4BH-01A-11D-A26I-08	0.617	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	1	0	1		20	2	2	1		1	1	152		152	162	1	1.820000	-2.559126	1	0.310000	NM_018906			61	56		935	877	0		1	0		1	0	152	0		0.999998	0	0	0	0	1	0	61	935
PCDH12	51294	broad.mit.edu	37	5	141335640	141335640	+	Missense_Mutation	SNP	C	C	T	rs550140086		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:141335640C>T	ENST00000231484.3	-	1	2987	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	593					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGAGTCTCGATGGGCACC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18948	0.0		0.0	False		,,,				2504	0.001					ENST00000231484.3	1.000000	0.800000	1	9.200000e-01	0.990000	0.973418	0.990000	1.000000																										0				38						c.(1777-1779)Gag>Aag		protocadherin 12							51.0	47.0	48.0					5																	141335640		2203	4300	6503	SO:0001583	missense	51294	1	121412	28				g.chr5:141335640C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1777G>A	chr5.hg19:g.141335640C>T	ENSP00000231484:p.Glu593Lys	0					AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	p.E593K	NM_016580.2	NP_057664.1	0	0	0	1.973607	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2987	-		all_hematologic(541;0.0999)	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	1	1	hg19	c.1777G>A	CCDS4269.1	1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681193	0.29872	.	.	ENSG00000113555	ENST00000231484	T	0.53423	0.62	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.194702	0.44285	D	0.000471	T	0.37019	0.0988	L	0.54323	1.7	0.43430	D	0.995596	P	0.41710	0.76	B	0.22152	0.038	T	0.39292	-0.9621	10	0.44086	T	0.13	.	14.5119	0.67794	0.0:1.0:0.0:0.0	.	593	Q9NPG4	PCD12_HUMAN	K	593	ENSP00000231484:E593K	ENSP00000231484:E593K	E	-	1	0	0	PCDH12	141315824	141315824	1.000000	0.71417	0.755000	0.31263	0.059000	0.15707	5.396000	0.66297	2.802000	0.96397	0.655000	0.94253	GAG	0.278695		TCGA-HZ-A4BH-01A-11D-A26I-08	0.597	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1		2	2	2	0		0	0	66		66	66	1	1.820000	-3.021709	1	0.310000	NM_016580			51	51		246	242	1		1	0		0	0	66	0		1.000000	9.615120e-01	0	0	0	28	0	51	246
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512																																						ENST00000274181.7	0.560000	0.330000	5.100000e-01	3.800000e-01	0.430000	0.447389	0.430000	0.440000																										0				107						c.(2422-2424)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 16							97.0	94.0	95.0					5																	5239938		1859	4088	5947	SO:0001583	missense	170690	9	120814	41				g.chr5:5239938G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2423G>A	chr5.hg19:g.5239938G>A	ENSP00000274181:p.Arg808Gln	0						p.R808Q	NM_139056.2	NP_620687.2	0	0	0	2.035507	Q8TE57	ATS16_HUMAN		16	2561	+			C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	1	1	hg19	c.2423G>A	CCDS43299.1	0	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660533	0.47572	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50277	0.75	5.56	4.69	0.59074	5.56	4.69	0.59074	ADAM-TS Spacer 1 (1);	0.275899	0.31020	N	0.008407	T	0.32041	0.0816	L	0.35542	1.07	0.09310	N	0.999998	B;B	0.26081	0.141;0.085	B;B	0.18561	0.02;0.022	T	0.14868	-1.0457	10	0.26408	T	0.33	.	7.7049	0.28644	0.246:0.0:0.754:0.0	.	808;808	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	808	ENSP00000274181:R808Q	ENSP00000274181:R808Q	R	+	2	0	0	ADAMTS16	5292938	5292938	0.005000	0.15991	0.498000	0.27564	0.973000	0.67179	1.239000	0.32719	1.355000	0.45865	0.655000	0.94253	CGG	0.301337		TCGA-HZ-A4BH-01A-11D-A26I-08	0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	1		2	2	2	0		0	0	75		75	73	1	1.820000	-2.774725	1	0.310000	NM_139056			50	50		672	662	0		1	0		0	0	75	0		1.000000	2.857254e-01	0	0	0	15	0	50	672
SKP2	6502	broad.mit.edu	37	5	36170522	36170522	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:36170522A>G	ENST00000274255.6	+	6	944	c.748A>G	c.(748-750)Act>Gct	p.T250A	SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.T250A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCTGCAGACTTTGCTAAG	0.383																																						ENST00000274255.6	0.510000	0.230000	4.400000e-01	2.900000e-01	0.360000	0.370330	0.360000	0.360000																										0				4						c.(748-750)Act>Gct		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							104.0	99.0	100.0					5																	36170522		2203	4300	6503	SO:0001583	missense	6502	0	0					g.chr5:36170522A>G	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.748A>G	chr5.hg19:g.36170522A>G	ENSP00000274255:p.Thr250Ala	0					SKP2_ENST00000274254.5_Missense_Mutation_p.T250A|SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron	p.T250A	NM_005983.3	NP_005974.2	0	0	0	2.035507	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)	6	944	+	all_lung(31;5.63e-05)		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	1	1	hg19	c.748A>G	CCDS3916.1	0	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828751	0.16749	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151;ENST00000546211	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.53	3.19	0.36642	5.53	3.19	0.36642	.	0.419284	0.28365	N	0.015605	T	0.31199	0.0789	L	0.37507	1.11	0.24045	N	0.996061	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.24083	-1.0170	10	0.07644	T	0.81	-7.1949	8.9256	0.35639	0.8857:0.0:0.1143:0.0	.	36;250;250	B4DJT4;Q13309-2;Q13309	.;.;SKP2_HUMAN	A	250;250;216;205;36	ENSP00000274254:T250A;ENSP00000274255:T250A;ENSP00000423188:T205A;ENSP00000443492:T36A	ENSP00000274254:T250A	T	+	1	0	0	SKP2	36206279	36206279	0.702000	0.27816	0.988000	0.46212	0.883000	0.51084	1.206000	0.32321	0.546000	0.28920	0.533000	0.62120	ACT	0.301337		TCGA-HZ-A4BH-01A-11D-A26I-08	0.383	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	1	0	1		2	2	2	0		0	0	48		48	48	1	1.820000	-20.000000	1	0.310000	NM_005983			25	25		418	415	0		1	0		0	0	48	0		1.000000	1.968732e-01	0	1	0	13	0	25	418
CKMT2	1160	broad.mit.edu	37	5	80550266	80550266	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:80550266G>A	ENST00000424301.2	+	5	641	c.403G>A	c.(403-405)Gac>Aac	p.D135N	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000502041.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	135					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CAACGGCTATGACCCCAGGGT	0.532																																						ENST00000424301.2	0.580000	0.270000	5.000000e-01	3.400000e-01	0.410000	0.426065	0.410000	0.410000																										0				17						c.(403-405)Gac>Aac		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						154.0	139.0	144.0					5																	80550266		2203	4300	6503	SO:0001583	missense	1160	0	0					g.chr5:80550266G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.403G>A	chr5.hg19:g.80550266G>A	ENSP00000404203:p.Asp135Asn	0					CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N	p.D135N	NM_001825.2	NP_001816.2	0	0	0	1.973607	P17540	KCRS_HUMAN		5	641	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	1	1	hg19	c.403G>A	CCDS4053.1	0	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760757	0.69763	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.61	5.61	0.85477	5.61	5.61	0.85477	ATP:guanido phosphotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.69185	2.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.61267	-0.7097	10	0.54805	T	0.06	-10.8422	19.6449	0.95773	0.0:0.0:1.0:0.0	.	135	P17540	KCRS_HUMAN	N	135	ENSP00000254035:D135N;ENSP00000423264:D135N;ENSP00000410289:D135N;ENSP00000404203:D135N;ENSP00000427635:D135N	ENSP00000254035:D135N	D	+	1	0	0	CKMT2	80586022	80586022	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.641000	0.83368	2.627000	0.88993	0.563000	0.77884	GAC	0.278695		TCGA-HZ-A4BH-01A-11D-A26I-08	0.532	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	1	0	1		2	2	2	0		0	0	86		86	85	1	1.820000	-7.418816	1	0.310000	NM_001825			25	24		347	344	0		1	0		0	0	86	0		1.000000	1.039398e-01	0	0	0	8	0	25	347
GABRG2	2566	broad.mit.edu	37	5	161576159	161576159	+	Missense_Mutation	SNP	G	G	A	rs397514737		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:161576159G>A	ENST00000361925.4	+	8	1188	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000356592.3_Missense_Mutation_p.R323Q			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	323					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCATTGCCCGGAAATCGCTC	0.473																																						ENST00000361925.4	0.700000	0.390000	6.300000e-01	4.600000e-01	0.530000	0.546976	0.530000	0.540000																										0				62						c.(967-969)cGg>cAg		gamma-aminobutyric acid (GABA) A receptor, gamma 2	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)						231.0	187.0	202.0					5																	161576159		2203	4300	6503	SO:0001583	missense	2566	0	0					g.chr5:161576159G>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.968G>A	chr5.hg19:g.161576159G>A	ENSP00000354651:p.Arg323Gln	0					GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000356592.3_Missense_Mutation_p.R323Q	p.R323Q			0	0	0	1.973607	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	8	1188	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	1	1	hg19	c.968G>A	CCDS4358.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.909224	0.97093	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	5.88	5.88	0.94601	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.954;0.969	D	0.92716	0.6187	10	0.87932	D	0	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	363;323;323	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	Q	323;363;323;228	ENSP00000349000:R323Q;ENSP00000410732:R363Q;ENSP00000354651:R323Q;ENSP00000377510:R228Q	ENSP00000349000:R323Q	R	+	2	0	0	GABRG2	161508737	161508737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.751000	0.98889	2.779000	0.95612	0.650000	0.86243	CGG	0.278695		TCGA-HZ-A4BH-01A-11D-A26I-08	0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1	1	0	1		2	2	2	0		0	0	65		65	65	1	1.820000	-2.522913	1	0.310000				40	40		418	416	0		1	0		0	0	65	0		1.000000	9.464194e-02	0	0	0	6	0	40	418
PRL	5617	broad.mit.edu	37	6	22294688	22294688	+	Missense_Mutation	SNP	C	C	T	rs569915370		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:22294688C>T	ENST00000306482.1	-	2	672	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	52					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGGACAGGACGACGGCGCGG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14406	0.0		0.0	False		,,,				2504	0.0					ENST00000306482.1	0.980000	0.550000	8.600000e-01	6.400000e-01	0.740000	0.756057	0.740000	0.740000																										0				16						c.(154-156)Gtc>Atc		prolactin							100.0	91.0	94.0					6																	22294688		2203	4300	6503	SO:0001583	missense	5617	2	121412	32				g.chr6:22294688C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.154G>A	chr6.hg19:g.22294688C>T	ENSP00000302150:p.Val52Ile	0					RP3-404K8.2_ENST00000561912.1_RNA	p.V52I	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	1	2	3	2.059508	P01236	PRL_HUMAN		2	672	-	Ovarian(93;0.163)		Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	1	1	hg19	c.154G>A	CCDS4548.1	0	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996710	0.35226	.	.	ENSG00000172179	ENST00000306482	D	0.88741	-2.42	5.85	0.828	0.18841	5.85	0.828	0.18841	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.538216	0.21188	N	0.078687	T	0.49795	0.1578	N	0.02854	-0.475	0.19945	N	0.999948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52495	-0.8568	10	0.28530	T	0.3	0.6696	5.8852	0.18878	0.0:0.2086:0.129:0.6624	.	52;53	P01236;Q5I0G2	PRL_HUMAN;.	I	52	ENSP00000302150:V52I	ENSP00000302150:V52I	V	-	1	0	0	PRL	22402667	22402667	0.999000	0.42202	0.922000	0.36590	0.815000	0.46073	0.547000	0.23299	0.122000	0.18314	-0.471000	0.05019	GTC	0.311068		TCGA-HZ-A4BH-01A-11D-A26I-08	0.582	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	1	0	1		2	2	2	0		0	0	74		74	74	1	1.820000	-17.293210	1	0.310000	NM_000948			44	43		336	334	1		1			0	0	74	0		1.000000	0	0	0	0	0	0	44	336
EYS	346007	broad.mit.edu	37	6	66063415	66063415	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:66063415G>C	ENST00000370621.3	-	9	1921	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	EYS_ENST00000342421.5_Missense_Mutation_p.F465L|EYS_ENST00000393380.2_Missense_Mutation_p.F465L|EYS_ENST00000503581.1_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000370618.3_Missense_Mutation_p.F465L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATACCATGGAAGGTGACTC	0.373																																						ENST00000370621.3	1.000000	0.690000	9.700000e-01	7.700000e-01	0.870000	0.872952	0.870000	1.000000																										0				69						c.(1393-1395)ttC>ttG		eyes shut homolog (Drosophila)							116.0	106.0	110.0					6																	66063415		2203	4300	6503	SO:0001583	missense	346007	0	0					g.chr6:66063415G>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1395C>G	chr6.hg19:g.66063415G>C	ENSP00000359655:p.Phe465Leu	0					EYS_ENST00000370618.3_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000393380.2_Missense_Mutation_p.F465L|EYS_ENST00000503581.1_Missense_Mutation_p.F465L|EYS_ENST00000342421.5_Missense_Mutation_p.F465L	p.F465L			1	2	3	2.058211	Q5T1H1	EYS_HUMAN		9	1921	-			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	1	1	hg19	c.1395C>G		1	.	.	.	.	.	.	.	.	.	.	g	7.119	0.577517	0.13686	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.14	0.278	0.15673	4.14	0.278	0.15673	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.48875	-0.8996	9	0.11794	T	0.64	.	6.6386	0.22897	0.4292:0.0:0.5708:0.0	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	465	ENSP00000424243:F465L;ENSP00000359655:F465L;ENSP00000359650:F465L;ENSP00000377042:F465L;ENSP00000341818:F465L;ENSP00000359652:F465L	ENSP00000341818:F465L	F	-	3	2	2	EYS	66120136	66120136	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.195000	0.09546	-0.034000	0.13713	0.591000	0.81541	TTC	0.311068		TCGA-HZ-A4BH-01A-11D-A26I-08	0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1		2	2	2	0		0	0	44		44	44	1	1.820000	-20.000000	1	0.310000	XM_294050			70	70		448	448	1		1			0	0	44	0		1.000000	0	0	0	0	0	0	70	448
SLC16A10	117247	broad.mit.edu	37	6	111498424	111498424	+	Missense_Mutation	SNP	G	G	C	rs537548710		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:111498424G>C	ENST00000368851.5	+	3	673	c.498G>C	c.(496-498)gaG>gaC	p.E166D	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	166					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GTTCCATCGAGCCTCTGTACC	0.398																																						ENST00000368851.5	0.810000	0.460000	7.200000e-01	5.400000e-01	0.620000	0.636262	0.620000	0.630000																										0				12						c.(496-498)gaG>gaC		solute carrier family 16 (aromatic amino acid transporter), member 10	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)						71.0	74.0	73.0					6																	111498424		2203	4300	6503	SO:0001583	missense	117247	0	0					g.chr6:111498424G>C	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.498G>C	chr6.hg19:g.111498424G>C	ENSP00000357844:p.Glu166Asp	0					SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	p.E166D	NM_018593.4	NP_061063.2	0	1	1	1.912280	Q8TF71	MOT10_HUMAN		3	673	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	1	1	hg19	c.498G>C	CCDS5089.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897900|1.897900	0.33535|0.33535	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.37058|.	1.22|.	5.22|5.22	2.37|2.37	0.29283|0.29283	5.22|5.22	2.37|2.37	0.29283|0.29283	Major facilitator superfamily domain, general substrate transporter (1);|.	0.144833|.	0.64402|.	N|.	0.000008|.	T|T	0.43500|0.43500	0.1250|0.1250	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;D|.	0.56521|.	0.786;0.976|.	P;P|.	0.62298|.	0.76;0.9|.	T|T	0.42447|0.42447	-0.9451|-0.9451	10|5	0.19147|.	T|.	0.46|.	.|.	4.3484|4.3484	0.11143|0.11143	0.2966:0.0:0.542:0.1614|0.2966:0.0:0.542:0.1614	.|.	166;166|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	D|T	166;166;57|52	ENSP00000357844:E166D|.	ENSP00000357844:E166D|.	E|S	+|+	3|2	2|0	2|0	SLC16A10|SLC16A10	111605117|111605117	111605117|111605117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.672000|0.672000	0.25187|0.25187	0.653000|0.653000	0.30826|0.30826	0.563000|0.563000	0.77884|0.77884	GAG|AGC	0.258264		TCGA-HZ-A4BH-01A-11D-A26I-08	0.398	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	1	0	1		2	2	2	0		0	0	56		56	55	1	1.820000	-20.000000	1	0.310000				45	45		384	377	1		1	0		0	0	56	0		1.000000	2.482022e-01	0	0	0	9	0	45	384
MYO1G	64005	broad.mit.edu	37	7	45003667	45003667	+	Missense_Mutation	SNP	C	C	T	rs370778515		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:45003667C>T	ENST00000258787.7	-	20	2862	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	909	Myosin tail. {ECO:0000255}.					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						GGGCACGGCCCGCATCACCCG	0.637																																						ENST00000258787.7	1.000000	0.470000	1	7.100000e-01	0.990000	0.896844	0.990000	1.000000																										0				28						c.(2725-2727)cGg>cAg		myosin IG		C	GLN/ARG	1,4393		0,1,2196	62.0	55.0	57.0		2726	4.2	1.0	7		57	0,8600		0,0,4300	no	missense	MYO1G	NM_033054.2	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	909/1019	45003667	1,12993	2197	4300	6497	SO:0001583	missense	64005	5	120834	32				g.chr7:45003667C>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.2726G>A	chr7.hg19:g.45003667C>T	ENSP00000258787:p.Arg909Gln	1						p.R909Q	NM_033054.2	NP_149043.2	0	2	2	1.883342	B0I1T2	MYO1G_HUMAN		20	2862	-			Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	0	1	hg19	c.2726G>A	CCDS34629.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962493	0.74016	2.28E-4	0.0	ENSG00000136286	ENST00000258787	T	0.39056	1.1	4.24	4.24	0.50183	4.24	4.24	0.50183	Myosin tail 2 (1);	0.000000	0.33792	N	0.004548	T	0.32194	0.0821	M	0.62016	1.91	0.35794	D	0.82262	P	0.38677	0.642	B	0.26416	0.069	T	0.41875	-0.9484	10	0.15952	T	0.53	.	12.0407	0.53452	0.0:0.8248:0.1752:0.0	.	909	B0I1T2	MYO1G_HUMAN	Q	909	ENSP00000258787:R909Q	ENSP00000258787:R909Q	R	-	2	0	0	MYO1G	44970192	44970192	0.998000	0.40836	0.994000	0.49952	0.695000	0.40330	3.509000	0.53386	2.286000	0.76751	0.655000	0.94253	CGG	0.310000		TCGA-HZ-A4BH-01A-11D-A26I-08	0.637	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	1		2	2	2	0		0	0	8		8	8	1	1.820000	-14.005020	1	0.310000				7	7		40	40	0		1	0		0	0	8	0		0.983479	9.217702e-01	0	0	0	29	0	7	40
DEFB136	613210	broad.mit.edu	37	8	11831528	11831528	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:11831528G>A	ENST00000382209.2	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	52					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGGCAGAACGCAATCCACCT	0.458																																						ENST00000382209.2	0.530000	0.340000	4.800000e-01	3.800000e-01	0.430000	0.440060	0.430000	0.440000																										0				7						c.(154-156)gCg>gTg		defensin, beta 136							196.0	197.0	197.0					8																	11831528		1984	4165	6149	SO:0001583	missense	613210	1	120920	37				g.chr8:11831528G>A	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.155C>T	chr8.hg19:g.11831528G>A	ENSP00000371644:p.Ala52Val	0						p.A52V	NM_001033018.2	NP_001028190.2	0	1	1	1.961253	Q30KP8	DB136_HUMAN	STAD - Stomach adenocarcinoma(15;0.033)	2	154	-			Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	1	1	hg19	c.155C>T	CCDS43709.1	0	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122435	0.37436	.	.	ENSG00000205884	ENST00000382209	T	0.17691	2.26	4.06	2.2	0.27929	4.06	2.2	0.27929	.	0.810105	0.10785	N	0.634395	T	0.23727	0.0574	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.52066	0.689	T	0.12016	-1.0564	9	0.66056	D	0.02	0.1607	5.4674	0.16650	0.1106:0.2046:0.6848:0.0	.	52	Q30KP8	DB136_HUMAN	V	52	ENSP00000371644:A52V	ENSP00000371644:A52V	A	-	2	0	0	DEFB136	11868937	11868937	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.184000	0.16939	0.628000	0.30357	0.555000	0.69702	GCG	0.258264		TCGA-HZ-A4BH-01A-11D-A26I-08	0.458	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	1	0	1		2	2	2	0		0	0	169		169	169	1	1.820000	-15.381800	1	0.310000	NM_001033018			85	84		1083	1076	0		1			0	0	169	0		1.000000	0	0	0	0	0	0	85	1083
FAM154A	158297	broad.mit.edu	37	9	18941744	18941744	+	Silent	SNP	C	C	T	rs112030642		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:18941744C>T	ENST00000380534.4	-	3	591	c.312G>A	c.(310-312)acG>acA	p.T104T	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTTTCTTATACGTCGTGAGCA	0.478																																						ENST00000380534.4	1.000000	0.850000	9.900000e-01	9.100000e-01	0.960000	0.956610	0.960000	0.990000																										0				26						c.(310-312)acG>acA		family with sequence similarity 154, member A							196.0	169.0	178.0					9																	18941744		2203	4300	6503	SO:0001819	synonymous_variant	158297	1	121412	38				g.chr9:18941744C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.312G>A	chr9.hg19:g.18941744C>T		1					FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	p.T104T	NM_153707.2	NP_714918.2	0	1	1	1.728485	Q8IYX7	F154A_HUMAN		3	591	-			Q5VY58	Silent	SNP	ENST00000380534.4	1	1	hg19	c.312G>A	CCDS6487.1	1																																																																																								0.183432		TCGA-HZ-A4BH-01A-11D-A26I-08	0.478	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	1	0	1		2	2	2	0		0	0	76		76	76	1	1.820000	-20.000000	1	0.310000	NM_153707			104	101		412	405	1		1			0	0	76	0		1.000000	0	0	0	0	0	0	104	412
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	C	rs121913385		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:21971111G>C	ENST00000304494.5	-	2	517	c.247C>G	c.(247-249)Cac>Gac	p.H83D	CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97G|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	0.950000	0.430000	8.400000e-01	5.500000e-01	0.690000	0.702028	0.690000	0.690000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																								1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(247-249)Cac>Gac		cyclin-dependent kinase inhibitor 2A							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029	0	0					g.chr9:21971111G>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>G	chr9.hg19:g.21971111G>C	ENSP00000307101:p.His83Asp	1	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97G|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D	p.H83D	NM_000077.4	NP_000068.1	0	1	1	1.728485	P42771	CD2A1_HUMAN		2	517	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	1	1	hg19	c.247C>G	CCDS6510.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311283|4.311283	0.81358|0.81358	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71341	-1.37;-1.3|-0.56;-0.56	5.93|5.93	5.93|5.93	0.95920|0.95920	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77370|0.77370	0.4120|0.4120	L|L	0.27053|0.27053	0.805|0.805	0.45962|0.45962	D|D	0.998784|0.998784	P|D	0.36144|0.71674	0.539|0.998	B|D	0.37480|0.79784	0.251|0.993	T|T	0.77773|0.77773	-0.2462|-0.2462	10|9	0.54805|0.52906	T|T	0.06|0.07	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	G|D	138;97|83	ENSP00000355153:A138G;ENSP00000432664:A97G|ENSP00000307101:H83D;ENSP00000394932:H83D	ENSP00000355153:A138G|ENSP00000307101:H83D	A|H	-|-	2|1	0|0	0|0	CDKN2A|CDKN2A	21961111|21961111	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	0.183432		TCGA-HZ-A4BH-01A-11D-A26I-08	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	1		2	2	2	0		0	0	27		27	26	1	1.820000	-20.000000	1	0.310000	NM_000077			17	14		113	96	0		1	1	1	0	0	27	139		0.999904	9.999954e-01	9.875572e-01	154	9	1	42	17	113
NUDT2	318	broad.mit.edu	37	9	34343390	34343390	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:34343390G>T	ENST00000379158.2	+	5	754	c.396G>T	c.(394-396)aaG>aaT	p.K132N	NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N|NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	132	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGGAGATGAAGGCAGCGCTCC	0.567																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2	0.320000	0.100000	2.600000e-01	1.400000e-01	0.190000	0.206020	0.190000	0.190000																										0				3						c.(394-396)aaG>aaT		nudix (nucleoside diphosphate linked moiety X)-type motif 2							41.0	41.0	41.0					9																	34343390		2203	4300	6503	SO:0001583	missense	318	0	0					g.chr9:34343390G>T	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.396G>T	chr9.hg19:g.34343390G>T	ENSP00000368455:p.Lys132Asn	1					NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N|NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N	p.K132N	NM_001161.4	NP_001152.1	0	1	1	1.728485	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	5	754	+			D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	1	1	hg19	c.396G>T	CCDS6552.1	0	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382081	0.42207	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	T;T;T	0.08458	3.09;3.09;3.09	5.88	4.99	0.66335	5.88	4.99	0.66335	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.205060	0.56097	D	0.000038	T	0.11665	0.0284	L	0.55481	1.735	0.51233	D	0.999916	B	0.26483	0.15	B	0.34536	0.185	T	0.03969	-1.0988	10	0.56958	D	0.05	-18.5143	9.5184	0.39120	0.1987:0.0:0.8013:0.0	.	132	P50583	AP4A_HUMAN	N	132	ENSP00000368452:K132N;ENSP00000344187:K132N;ENSP00000368455:K132N	ENSP00000338397:K132N	K	+	3	2	2	NUDT2	34333390	34333390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.713000	0.61895	1.509000	0.48786	0.561000	0.74099	AAG	0.183432		TCGA-HZ-A4BH-01A-11D-A26I-08	0.567	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	0	0	1		2	2	2	0		0	0	52		52	52	1	1.820000	-11.967900	1	0.310000	NM_001161			11	11		300	297	0		1	1		0	0	52	0		0.998323	5.962846e-01	0	3	0	51	0	11	300
NTNG2	84628	broad.mit.edu	37	9	135073821	135073821	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:135073821C>T	ENST00000393229.3	+	3	1458	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	228	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCCCGACCTGCGCAACATGGA	0.667																																						ENST00000393229.3	1.000000	0.080000	3.000000e-01	1.200000e-01	0.180000	0.294703	0.180000	0.160000																										0				29						c.(682-684)Cgc>Tgc		netrin G2							55.0	53.0	54.0					9																	135073821		2203	4300	6503	SO:0001583	missense	84628	0	0					g.chr9:135073821C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.682C>T	chr9.hg19:g.135073821C>T	ENSP00000376921:p.Arg228Cys	1					NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C	p.R228C	NM_032536.2	NP_115925.2	0	2	2	1.904342	Q96CW9	NTNG2_HUMAN		3	1458	+			Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	0	1	hg19	c.682C>T	CCDS6946.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113959	0.77210	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.22	5.22	0.72569	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.068253	0.64402	D	0.000020	T	0.77054	0.4074	L	0.57536	1.79	0.49915	D	0.999837	D	0.71674	0.998	P	0.52309	0.695	T	0.79227	-0.1890	10	0.62326	D	0.03	.	11.6166	0.51094	0.284:0.716:0.0:0.0	.	228	Q96CW9	NTNG2_HUMAN	C	228	ENSP00000376921:R228C;ENSP00000376920:R228C;ENSP00000353888:R228C;ENSP00000361252:R228C	ENSP00000353888:R228C	R	+	1	0	0	NTNG2	134063642	134063642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.164000	0.50770	2.417000	0.82017	0.561000	0.74099	CGC	0.310000		TCGA-HZ-A4BH-01A-11D-A26I-08	0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	0	1		2	2	2	0		0	0	116		116	115	1	1.820000	-3.125807	1	0.310000	NM_032536			11	11		413	406	0		1	0		0	0	116	0		0.998222	2.106905e-02	0	0	0	8	0	11	413
FAM47A	158724	broad.mit.edu	37	X	34150323	34150323	+	Silent	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:34150323G>T	ENST00000346193.3	-	1	124	c.73C>A	c.(73-75)Cgg>Agg	p.R25R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	25										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCCGTTTGTTACAG	0.612																																						ENST00000346193.3	0.300000	0.110000	2.500000e-01	1.500000e-01	0.190000	0.205188	0.190000	0.190000																										0				97						c.(73-75)Cgg>Agg		family with sequence similarity 47, member A							49.0	49.0	49.0					X																	34150323		2202	4300	6502	SO:0001819	synonymous_variant	158724	0	0					g.chrX:34150323G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.73C>A	chrX.hg19:g.34150323G>T								p.R25R	NM_203408.3	NP_981953.2	0	1	1		Q5JRC9	FA47A_HUMAN		1	124	-			A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	1	1	hg19	c.73C>A	CCDS43926.1	0																																																																																								0.310000		TCGA-HZ-A4BH-01A-11D-A26I-08	0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	1	0	1		2	2	2	0		0	0	36		36	36	1	1.820000	-5.615640	1	0.310000	NM_203408			16	16		247	247	0		1			0	0	36	0		0.999941	0	0	0	0	0	0	16	247
