#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
SIGIRR	59307	broad.mit.edu	37	11	406437	406439	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			GTC	-	GTC	GTC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:406437_406439delGTC	ENST00000431843.2	-	9	1285_1287	c.979_981delGAC	c.(979-981)gacdel	p.D327del	SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del|SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del|SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	327					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGTCCTTGTCGTCCTGCAGC	0.65																																						ENST00000431843.2	0.750000	5.400000e-01	7.000000e-01	5.800000e-01	0.630000	0.645653	0.630000	0.640000																										0				13						c.(979-981)gacdel		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain																																				SO:0001651	inframe_deletion	59307	0	0					g.chr11:406437_406439delGTC		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.979_981delGAC	chr11.hg19:g.406440_406442delGTC	ENSP00000403104:p.Asp327del	0					SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del|SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del|SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del	p.D327del	NM_001135054.1	NP_001128526.1	1	2	3	2.104286	Q6IA17	SIGIR_HUMAN		9	1285_1287	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	Q3KQY2|Q6UXI3|Q9H733	In_Frame_Del	DEL	ENST00000431843.2	1	1	hg19	c.979_981delGAC	CCDS31325.1	0																																																																																								0.671102		TCGA-F2-6879-01A-11D-2154-08	0.650	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	1	0	0		2	2		0		0	0	73		73	70	1	1.870000	-20.000000	1	0.670000	NM_021805			125	152		457	486	0		1	1	0	0	0	73	0		1.000000	1	0	135	0	429	0	125	457
FAT4	79633	broad.mit.edu	37	4	126241496	126241502	+	Frame_Shift_Del	DEL	CAATACC	CAATACC	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:126241496_126241502delCAATACC	ENST00000394329.3	+	1	3943_3949	c.3930_3936delCAATACC	c.(3928-3936)gacaataccfs	p.DNT1310fs		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1310	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1312S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAAATGACAATACCCCTTCTTTCC	0.391																																						ENST00000394329.3	0.600000	4.000000e-01	5.400000e-01	4.400000e-01	0.480000	0.498883	0.480000	0.490000																										2	Substitution - Missense(2)	p.T1312S(2)	lung(2)	355						c.(3928-3936)gacaataccfs		FAT atypical cadherin 4																																				SO:0001589	frameshift_variant	79633	0	0					g.chr4:126241496_126241502delCAATACC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3930_3936delCAATACC	chr4.hg19:g.126241496_126241502delCAATACC	ENSP00000377862:p.Asp1310fs	0						p.DNT1310fs	NM_024582.4	NP_078858.4	1	2	3	2.128560	Q6V0I7	FAT4_HUMAN		1	3943_3949	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	1	1	hg19	c.3930_3936delCAATACC	CCDS3732.3	0																																																																																								0.672196		TCGA-F2-6879-01A-11D-2154-08	0.391	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2		0		0	0	80		80	78	1	1.870000	-20.000000	1	0.670000	NM_024582			100	136		512	545	0		1	0	0	0	0	80	0		1.000000	1.925968e-01	0	0	0	5	0	100	512
NPAS4	266743	broad.mit.edu	37	11	66190209	66190209	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:66190209A>T	ENST00000311034.2	+	4	671	c.495A>T	c.(493-495)aaA>aaT	p.K165N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	165					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGGCAACAAACTCGTGCTTA	0.552																																						ENST00000311034.2	1.000000	8.800000e-01	1	9.400000e-01	0.990000	0.979802	0.990000	1.000000																										0				49						c.(493-495)aaA>aaT		neuronal PAS domain protein 4							118.0	113.0	114.0					11																	66190209		2200	4295	6495	SO:0001583	missense	266743	0	0					g.chr11:66190209A>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.495A>T	chr11.hg19:g.66190209A>T	ENSP00000311196:p.Lys165Asn	0						p.K165N	NM_178864.3	NP_849195.2	1	2	3	2.152666	Q8IUM7	NPAS4_HUMAN		4	671	+			B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	1	1	hg19	c.495A>T	CCDS8138.1	1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254963	0.80135	.	.	ENSG00000174576	ENST00000311034	T	0.55588	0.51	5.74	1.2	0.21068	5.74	1.2	0.21068	.	0.097095	0.45606	D	0.000357	T	0.70245	0.3202	M	0.87038	2.855	0.58432	D	0.999999	D	0.71674	0.998	D	0.72982	0.979	T	0.69461	-0.5139	10	0.87932	D	0	-10.5374	7.7832	0.29077	0.4889:0.0:0.5111:0.0	.	165	Q8IUM7	NPAS4_HUMAN	N	165	ENSP00000311196:K165N	ENSP00000311196:K165N	K	+	3	2	2	NPAS4	65946785	65946785	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.957000	0.40392	0.145000	0.18977	0.533000	0.62120	AAA	0.675436		TCGA-F2-6879-01A-11D-2154-08	0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	1	0	1		2	2	2	0		0	0	45		45	45	1	1.870000	-20.000000	1	0.670000	NM_178864			161	160		323	315	1		1			0	0	45	0		1.000000	0	0	0	0	0	0	161	323
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	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			0	0					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>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		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>A	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>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val		TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1					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	1	1	hg19	c.35G>T	CCDS8703.1		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	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	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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			TCGA-F2-6879-01A-11D-2154-08	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	21		21	20	1	1.870000	-20.000000	1	0.670000	NM_033360			43	42		52	52	1		1	1	1	0	0	21	273		1.000000	1	1	29	146	17	211	43	52
HTR2A	3356	broad.mit.edu	37	13	47466615	47466615	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:47466615C>T	ENST00000378688.4	-	2	654	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I|HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	175					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGATGGCGACGTAGCGGTCC	0.537																																						ENST00000378688.4	1.000000	9.100000e-01	1	9.500000e-01	0.990000	0.983214	0.990000	1.000000																										0				36						c.(523-525)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)						245.0	235.0	238.0					13																	47466615		2203	4300	6503	SO:0001583	missense	3356	2	121412	40				g.chr13:47466615C>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.523G>A	chr13.hg19:g.47466615C>T	ENSP00000367959:p.Val175Ile	0					HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I|HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I	p.V175I			0	0	0	2.094656	P28223	5HT2A_HUMAN		2	654	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	1	1	hg19	c.523G>A	CCDS9405.1	1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009491	0.19277	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.38560	2.16;1.13;2.16	6.16	5.22	0.72569	6.16	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.056991	0.64402	D	0.000002	T	0.11965	0.0291	N	0.01242	-0.935	0.41185	D	0.986261	B;B	0.16603	0.013;0.018	B;B	0.19391	0.022;0.025	T	0.39623	-0.9605	10	0.02654	T	1	.	4.7372	0.12993	0.0:0.7455:0.0:0.2545	.	91;175	F5GWE8;P28223	.;5HT2A_HUMAN	I	175;91;175	ENSP00000367959:V175I;ENSP00000441861:V91I;ENSP00000437737:V175I	ENSP00000367959:V175I	V	-	1	0	0	HTR2A	46364616	46364616	0.999000	0.42202	0.441000	0.26858	0.958000	0.62258	3.377000	0.52425	2.937000	0.99478	0.650000	0.86243	GTC	0.670000		TCGA-F2-6879-01A-11D-2154-08	0.537	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	1	0	1		2	2	2	0		0	0	158		158	155	1	1.870000	-20.000000	1	0.670000	NM_000621			480	475		958	941	1		1			0	0	158	0		1.000000	0	0	0	0	0	0	480	958
NRXN3	9369	broad.mit.edu	37	14	79746678	79746678	+	Missense_Mutation	SNP	C	C	T	rs372995928		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr14:79746678C>T	ENST00000557594.1	+	1	997	c.44C>T	c.(43-45)cCg>cTg	p.P15L	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L|NRXN3_ENST00000281127.7_Missense_Mutation_p.P15L|NRXN3_ENST00000335750.5_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	15					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCGCCGGCCGGCCTGGACG	0.572																																						ENST00000557594.1	1.000000	1.000000e-01	1.800000e-01	1.200000e-01	0.140000	0.176379	0.140000	0.150000																										0				104						c.(43-45)cCg>cTg		neurexin 3							144.0	142.0	143.0					14																	79746678		2203	4300	6503	SO:0001583	missense	9369	0	0					g.chr14:79746678C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.44C>T	chr14.hg19:g.79746678C>T	ENSP00000451672:p.Pro15Leu	0					NRXN3_ENST00000281127.7_Missense_Mutation_p.P15L|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L	p.P15L	NM_001272020.1	NP_001258949.1	1	2	3	2.137941	Q9HDB5	NRX3B_HUMAN		1	997	+		Renal(4;0.00876)	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	1	1	hg19	c.44C>T		0	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132572	0.77662	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35789	1.4;1.46;1.29	5.58	5.58	0.84498	5.58	5.58	0.84498	.	.	.	.	.	T	0.43590	0.1254	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.983	D;D;D	0.79108	0.992;0.969;0.931	T	0.33420	-0.9869	8	.	.	.	.	17.8182	0.88642	0.0:1.0:0.0:0.0	.	15;15;15	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	L	15	ENSP00000451672:P15L;ENSP00000281127:P15L;ENSP00000394426:P15L	.	P	+	2	0	0	NRXN3	78816431	78816431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.259000	0.43259	2.647000	0.89833	0.558000	0.71614	CCG	0.674364		TCGA-F2-6879-01A-11D-2154-08	0.572	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	1	0	1		28	2	2	0		0	1	101		101	99	1	1.870000	-5.799979	1	0.670000	NM_001105250			47	44		906	889	0		1	0		0	0	101	0		0.988252	0	0	0	0	1	0	47	906
ACTC1	70	broad.mit.edu	37	15	35084689	35084689	+	Missense_Mutation	SNP	C	C	T	rs201921957		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr15:35084689C>T	ENST00000290378.4	-	4	1191	c.536G>A	c.(535-537)cGt>cAt	p.R179H	RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	179					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGATCCAGACGCATGATGGC	0.547																																						ENST00000290378.4	1.000000	6.500000e-01	8.600000e-01	7.100000e-01	0.770000	0.791232	0.770000	0.770000																										0				31						c.(535-537)cGt>cAt		actin, alpha, cardiac muscle 1							153.0	132.0	139.0					15																	35084689		2201	4298	6499	SO:0001583	missense	70	0	0					g.chr15:35084689C>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.536G>A	chr15.hg19:g.35084689C>T	ENSP00000290378:p.Arg179His	0					RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	p.R179H	NM_005159.4	NP_005150.1	2	2	4	2.204492	P68032	ACTC_HUMAN		4	1191	-		all_lung(180;2.3e-08)	P04270	Missense_Mutation	SNP	ENST00000290378.4	1	1	hg19	c.536G>A	CCDS10041.1	0	.	.	.	.	.	.	.	.	.	.	C	16.59	3.167082	0.57476	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94966	-3.57	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.000000	0.53938	U	0.000042	D	0.96225	0.8769	M	0.81682	2.555	0.80722	D	1	D	0.53462	0.96	P	0.52267	0.694	D	0.96705	0.9521	10	0.87932	D	0	.	18.8258	0.92117	0.0:1.0:0.0:0.0	.	179	P68032	ACTC_HUMAN	H	179;144	ENSP00000290378:R179H	ENSP00000290378:R179H	R	-	2	0	0	ACTC1	32871981	32871981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.499000	0.81566	2.755000	0.94549	0.591000	0.81541	CGT	0.686788		TCGA-F2-6879-01A-11D-2154-08	0.547	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	1	0	1		2	2	2	0		0	0	78		78	77	1	1.870000	-20.000000	1	0.670000	NM_005159			112	110		343	339	1		1	0		0	0	78	0		1.000000	1.537986e-01	0	0	0	3	0	112	343
NKD1	85407	broad.mit.edu	37	16	50666302	50666302	+	Missense_Mutation	SNP	C	C	T	rs554470098		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr16:50666302C>T	ENST00000268459.3	+	9	1030	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	269					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAAAACTACACGTCCCAATTT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17233	0.0		0.0	False		,,,				2504	0.001					ENST00000268459.3	1.000000	8.700000e-01	1	9.600000e-01	0.990000	0.986681	0.990000	1.000000																										0				23						c.(805-807)aCg>aTg		naked cuticle homolog 1 (Drosophila)							97.0	72.0	80.0					16																	50666302		2198	4300	6498	SO:0001583	missense	85407	1	121410	28				g.chr16:50666302C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.806C>T	chr16.hg19:g.50666302C>T	ENSP00000268459:p.Thr269Met	0						p.T269M	NM_033119.4	NP_149110.1	1	2	3	2.105498	Q969G9	NKD1_HUMAN		9	1030	+		all_cancers(37;0.229)	B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	1	1	hg19	c.806C>T	CCDS10743.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791638	0.90367	.	.	ENSG00000140807	ENST00000268459	T	0.77620	-1.11	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90850	0.4730	10	0.87932	D	0	-12.9426	18.6084	0.91275	0.0:1.0:0.0:0.0	.	269	Q969G9	NKD1_HUMAN	M	269	ENSP00000268459:T269M	ENSP00000268459:T269M	T	+	2	0	0	NKD1	49223803	49223803	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	7.578000	0.82498	2.403000	0.81681	0.563000	0.77884	ACG	0.671102		TCGA-F2-6879-01A-11D-2154-08	0.597	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	1	0	1		2	2	2	0		0	0	21		21	19	1	1.870000	-20.000000	1	0.670000				78	77		141	138	1		1	1		0	0	21	0		1.000000	9.975721e-01	0	2	0	18	0	78	141
FBXW10	10517	broad.mit.edu	37	17	18668178	18668178	+	Splice_Site	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:18668178T>C	ENST00000395665.4	+	8	1776		c.e8+2		FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000308799.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGTAAAAGGTGAGAAAGAAG	0.443																																						ENST00000395665.4	1.000000	8.300000e-01	1	9.000000e-01	0.960000	0.955196	0.960000	1.000000																										0				42						c.e8+2		F-box and WD repeat domain containing 10							54.0	64.0	61.0					17																	18668178		2200	4293	6493	SO:0001630	splice_region_variant	10517	0	0					g.chr17:18668178T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1555+2T>C	chr17.hg19:g.18668178T>C		1					FBXW10_ENST00000308799.4_Splice_Site|FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site				0	1	1	1.496731	Q5XX13	FBW10_HUMAN		8	1776	+			C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Splice_Site	SNP	ENST00000395665.4	0	1	hg19		CCDS11199.3	1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856478	0.32791	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	3.59	3.59	0.41128	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2006	0.43082	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	FBXW10	18608903	18608903	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.453000	0.73488	1.491000	0.48482	0.163000	0.16589	.	0.515952		TCGA-F2-6879-01A-11D-2154-08	0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	1	0	1		2	2	2	0		0	0	20		20	60	1	1.870000	-20.000000	1	0.670000	NM_031456	Intron		104	93		111	95	0		1			0	0	20	0		1.000000	0	0	0	0	0	0	104	111
SLC4A1	6521	broad.mit.edu	37	17	42332022	42332022	+	Silent	SNP	C	C	T	rs148412733		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:42332022C>T	ENST00000262418.6	-	16	2054	c.1899G>A	c.(1897-1899)tcG>tcA	p.S633S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	633	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCAGGCACCGAGAGTTTCT	0.612													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16818	0.0		0.0	False		,,,				2504	0.0					ENST00000262418.6	1.000000	7.800000e-01	9.900000e-01	8.600000e-01	0.940000	0.932967	0.940000	1.000000																										0				40						c.(1897-1899)tcG>tcA		solute carrier family 4 (anion exchanger), member 1 (Diego blood group)		T		3,4403	6.2+/-15.9	0,3,2200	41.0	35.0	37.0		1899	-11.3	0.0	17	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	SLC4A1	NM_000342.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		633/912	42332022	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6521	11	121412	39				g.chr17:42332022C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1899G>A	chr17.hg19:g.42332022C>T		1						p.S633S	NM_000342.3	NP_000333.1	0	1	1	1.506177	P02730	B3AT_HUMAN		16	2054	-		Breast(137;0.014)|Prostate(33;0.0181)	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	1	0	hg19	c.1899G>A	CCDS11481.1	1																																																																																								0.506247		TCGA-F2-6879-01A-11D-2154-08	0.612	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	1	0	0		2	2	2	0		0	0	15		15	15	1	1.870000	-14.920640	1	0.670000	NM_000342			51	50		49	49	1		1			0	0	15	0		1.000000	0	0	0	0	0	0	51	49
MYBBP1A	10514	broad.mit.edu	37	17	4458561	4458561	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:4458561G>A	ENST00000254718.4	-	1	365	c.59C>T	c.(58-60)gCc>gTc	p.A20V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	20	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGCAGGCCGGGCGCCACTCTG	0.637																																						ENST00000254718.4	1.000000	7.900000e-01	9.900000e-01	8.800000e-01	0.940000	0.940095	0.940000	0.990000																										0				24						c.(58-60)gCc>gTc		MYB binding protein (P160) 1a							19.0	21.0	20.0					17																	4458561		2201	4299	6500	SO:0001583	missense	10514	0	0					g.chr17:4458561G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.59C>T	chr17.hg19:g.4458561G>A	ENSP00000254718:p.Ala20Val	1					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V	p.A20V			0	1	1	1.478377	Q9BQG0	MBB1A_HUMAN		1	365	-			Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	0	1	hg19	c.59C>T	CCDS11046.1	1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590249	0.28357	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.18657	2.2;2.21	3.65	-2.44	0.06502	3.65	-2.44	0.06502	.	0.961415	0.08483	N	0.939134	T	0.08537	0.0212	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.003;0.006	T	0.35450	-0.9788	10	0.23302	T	0.38	.	1.0496	0.01577	0.3956:0.1515:0.2986:0.1543	.	20;20	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	V	20	ENSP00000370968:A20V;ENSP00000254718:A20V	ENSP00000254718:A20V	A	-	2	0	0	MYBBP1A	4405310	4405310	0.095000	0.21747	0.011000	0.14972	0.013000	0.08279	-0.258000	0.08733	-0.739000	0.04809	-0.952000	0.02654	GCC	0.503759		TCGA-F2-6879-01A-11D-2154-08	0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	1	0	1		2	2	2	0		0	0	9		9	9	1	1.870000	-20.000000	1	0.670000	NM_014520			34	34		24	24	1		1	1		0	0	9	0		1.000000	9.999998e-01	0	20	0	8	0	34	24
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	7.300000e-01	9.600000e-01	8.000000e-01	0.880000	0.888164	0.880000	0.910000		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		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	3	121412	37	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.chr17:7578190T>C	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.659A>G	chr17.hg19:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	p.Y220C	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	1.507814	P04637	P53_HUMAN		6	848	-		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.659A>G	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	0	TP53	7518915	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	0.506247		TCGA-F2-6879-01A-11D-2154-08	0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	26		26	26	1	1.870000	-20.000000	1	0.670000	NM_000546			59	56		70	68	1		1	1	1	0	0	26	820		1.000000	1	1	63	325	26	356	59	70
PLCD3	113026	broad.mit.edu	37	17	43192471	43192471	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:43192471G>A	ENST00000322765.5	-	11	1812	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	568	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCTGCCTCCCGAATGAGTTTC	0.657																																						ENST00000322765.5	0.430000	5.000000e-02	3.100000e-01	1.100000e-01	0.190000	0.215497	0.190000	0.170000																										0				17						c.(1699-1701)Cgg>Tgg		phospholipase C, delta 3							25.0	28.0	27.0					17																	43192471		1975	4154	6129	SO:0001583	missense	113026	0	0					g.chr17:43192471G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1699C>T	chr17.hg19:g.43192471G>A	ENSP00000313731:p.Arg567Trp	1					PLCD3_ENST00000540511.1_5'UTR	p.R567W	NM_133373.3	NP_588614.1	0	1	1	1.506177	Q8N3E9	PLCD3_HUMAN		11	1812	-			Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	0	1	hg19	c.1699C>T		0	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479804	0.26511	.	.	ENSG00000161714	ENST00000322765	T	0.68765	-0.35	3.78	-0.997	0.10215	3.78	-0.997	0.10215	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.152498	0.44483	D	0.000455	T	0.49932	0.1586	.	.	.	0.33151	D	0.545763	B	0.22346	0.068	B	0.12837	0.008	T	0.49818	-0.8899	9	0.87932	D	0	.	6.6438	0.22925	0.1084:0.0:0.2189:0.6726	.	568	Q8N3E9	PLCD3_HUMAN	W	567	ENSP00000313731:R567W	ENSP00000313731:R567W	R	-	1	2	2	PLCD3	40547997	40547997	1.000000	0.71417	0.964000	0.40570	0.197000	0.23852	1.024000	0.30077	0.048000	0.15891	0.462000	0.41574	CGG	0.506247		TCGA-F2-6879-01A-11D-2154-08	0.657	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	11		11	11	1	1.870000	-7.627057	1	0.670000	NM_133373			3	3		31	30	0		1	0		0	0	11	0		0.803100	9.757154e-01	0	0	0	86	0	3	31
LAMA1	284217	broad.mit.edu	37	18	6943188	6943188	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:6943188C>T	ENST00000389658.3	-	62	9151	c.9058G>A	c.(9058-9060)Ggc>Agc	p.G3020S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3020	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCAGGATAGCCACCAACATAA	0.502																																						ENST00000389658.3	1.000000	7.900000e-01	1	8.800000e-01	0.970000	0.951432	0.970000	1.000000																										0				205						c.(9058-9060)Ggc>Agc		laminin, alpha 1							201.0	143.0	162.0					18																	6943188		2203	4300	6503	SO:0001583	missense	284217	0	0					g.chr18:6943188C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.9058G>A	chr18.hg19:g.6943188C>T	ENSP00000374309:p.Gly3020Ser	0						p.G3020S	NM_005559.3	NP_005550.2	1	2	3	2.151162	P25391	LAMA1_HUMAN		62	9151	-		Colorectal(10;0.172)		Missense_Mutation	SNP	ENST00000389658.3	1	1	hg19	c.9058G>A	CCDS32787.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.551971	0.96501	.	.	ENSG00000101680	ENST00000389658	T	0.70869	-0.52	5.86	5.86	0.93980	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89477	0.3747	10	0.62326	D	0.03	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	3020;350	P25391;B3KSD8	LAMA1_HUMAN;.	S	3020	ENSP00000374309:G3020S	ENSP00000374309:G3020S	G	-	1	0	0	LAMA1	6933188	6933188	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	7.399000	0.79935	2.778000	0.95560	0.655000	0.94253	GGC	0.675436		TCGA-F2-6879-01A-11D-2154-08	0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1		2	2	2	0		0	0	36		36	36	1	1.870000	-20.000000	1	0.670000	NM_005559			80	80		170	168	1		1	0		0	0	36	0		1.000000	0	0	0	0	1	0	80	170
CDH7	1005	broad.mit.edu	37	18	63526217	63526217	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:63526217G>A	ENST00000397968.2	+	9	1855	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	CDH7_ENST00000323011.3_Missense_Mutation_p.D477N|CDH7_ENST00000536984.2_Missense_Mutation_p.D477N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	477	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACATCAATGATAACGCCCC	0.428																																						ENST00000397968.2	0.120000	2.000000e-02	9.000000e-02	3.000000e-02	0.060000	0.069125	0.060000	0.060000																										0				80						c.(1429-1431)Gat>Aat		cadherin 7, type 2							87.0	82.0	83.0					18																	63526217		2203	4300	6503	SO:0001583	missense	1005	0	0					g.chr18:63526217G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1429G>A	chr18.hg19:g.63526217G>A	ENSP00000381058:p.Asp477Asn	1					CDH7_ENST00000323011.3_Missense_Mutation_p.D477N|CDH7_ENST00000536984.2_Missense_Mutation_p.D477N	p.D477N	NM_004361.2	NP_004352.2	0	1	1	1.455464	Q9ULB5	CADH7_HUMAN		9	1855	+		Esophageal squamous(42;0.129)	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	0	1	hg19	c.1429G>A	CCDS11993.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.403313	0.96051	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.75367	-0.93;-0.93;-0.93	5.32	5.32	0.75619	5.32	5.32	0.75619	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91693	0.7374	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.945;0.996	D	0.94311	0.7545	10	0.87932	D	0	.	19.347	0.94367	0.0:0.0:1.0:0.0	.	477;477	F5H5X9;Q9ULB5	.;CADH7_HUMAN	N	477	ENSP00000319166:D477N;ENSP00000443030:D477N;ENSP00000381058:D477N	ENSP00000319166:D477N	D	+	1	0	0	CDH7	61677197	61677197	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.666000	0.98612	2.648000	0.89879	0.467000	0.42956	GAT	0.503759		TCGA-F2-6879-01A-11D-2154-08	0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	0	0	1		2	2	2	0		0	0	34		34	33	1	1.870000	-3.486004	1	0.670000	NM_033646			6	6		192	188	0		1			0	0	34	0		0.963425	0	0	0	0	0	0	6	192
GRIN2D	2906	broad.mit.edu	37	19	48918276	48918276	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:48918276G>C	ENST00000263269.3	+	6	1656	c.1568G>C	c.(1567-1569)gGc>gCc	p.G523A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCTGGAACGGCATGATCGGG	0.637																																						ENST00000263269.3	1.000000	7.700000e-01	1	8.500000e-01	0.930000	0.929127	0.930000	1.000000																										0				37						c.(1567-1569)gGc>gCc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						40.0	40.0	40.0					19																	48918276		2203	4300	6503	SO:0001583	missense	2906	0	0					g.chr19:48918276G>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1568G>C	chr19.hg19:g.48918276G>C	ENSP00000263269:p.Gly523Ala	0						p.G523A	NM_000836.2	NP_000827.2	2	2	4	2.234464	O15399	NMDE4_HUMAN		6	1656	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Missense_Mutation	SNP	ENST00000263269.3	1	1	hg19	c.1568G>C	CCDS12719.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950995	0.92660	.	.	ENSG00000105464	ENST00000263269	T	0.56444	0.46	4.88	4.88	0.63580	4.88	4.88	0.63580	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85032	0.0918	10	0.87932	D	0	.	17.1833	0.86860	0.0:0.0:1.0:0.0	.	523	O15399	NMDE4_HUMAN	A	523	ENSP00000263269:G523A	ENSP00000263269:G523A	G	+	2	0	0	GRIN2D	53610088	53610088	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.546000	0.98097	2.445000	0.82738	0.655000	0.94253	GGC	0.690722		TCGA-F2-6879-01A-11D-2154-08	0.637	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	1	0	1		2	2	2	0		0	0	24		24	24	1	1.870000	-7.904220	1	0.670000				98	96		238	232	1		1	1		0	0	24	0		1.000000	1	0	49	0	53	0	98	238
ZIM2	23619	broad.mit.edu	37	19	57286068	57286068	+	Silent	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:57286068G>A	ENST00000391708.3	-	12	2114	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Silent_p.C524C|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Silent_p.C524C|ZIM2_ENST00000593711.1_Silent_p.C524C|ZIM2_ENST00000601070.1_Silent_p.C524C	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C524C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AACAGTGATCGCACTCAACAG	0.458																																						ENST00000391708.3	1.000000	6.300000e-01	9.200000e-01	7.100000e-01	0.800000	0.819033	0.800000	0.800000																										1	Substitution - coding silent(1)	p.C524C(1)	large_intestine(1)	44						c.(1570-1572)tgC>tgT		zinc finger, imprinted 2							92.0	88.0	89.0					19																	57286068		2203	4300	6503	SO:0001819	synonymous_variant	23619	3	121412	32				g.chr19:57286068G>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1572C>T	chr19.hg19:g.57286068G>A		0					AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Silent_p.C524C|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Silent_p.C524C|ZIM2_ENST00000601070.1_Silent_p.C524C|ZIM2_ENST00000221722.5_Silent_p.C524C	p.C524C	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	2	2	4	2.221572	Q9NZV7	ZIM2_HUMAN		12	2114	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	Q2M3K1	Silent	SNP	ENST00000391708.3	0	1	hg19	c.1572C>T	CCDS33123.1	0																																																																																								0.688767		TCGA-F2-6879-01A-11D-2154-08	0.458	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2	1	0	1		2	2	2	0		0	0	38		38	37	1	1.870000	-20.000000	1	0.670000				64	62		189	187	0		1			0	0	38	0		1.000000	0	0	0	0	0	0	64	189
TMEM82	388595	broad.mit.edu	37	1	16069389	16069389	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16069389G>A	ENST00000375782.1	+	2	286	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	TMEM82_ENST00000465575.1_Intron|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	50	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTACTTCTTCGTGGGCTGTGC	0.662																																						ENST00000375782.1	1.000000	1.000000e-01	2.700000e-01	1.400000e-01	0.190000	0.255778	0.190000	0.180000																										0				13						c.(148-150)Gtg>Atg		transmembrane protein 82							34.0	30.0	31.0					1																	16069389		2203	4300	6503	SO:0001583	missense	388595	1	121312	28				g.chr1:16069389G>A		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.148G>A	chr1.hg19:g.16069389G>A	ENSP00000364938:p.Val50Met	0					RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron	p.V50M	NM_001013641.1	NP_001013663.1	2	2	4	2.218626	A0PJX8	TMM82_HUMAN		2	286	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	0	1	hg19	c.148G>A	CCDS30608.1	0	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670358	0.67814	.	.	ENSG00000162460	ENST00000375782	T	0.50277	0.75	4.48	2.05	0.26809	4.48	2.05	0.26809	.	0.816927	0.10716	N	0.642304	T	0.53674	0.1811	M	0.62723	1.935	0.22240	N	0.99926	D	0.63046	0.992	P	0.54706	0.759	T	0.41770	-0.9490	10	0.72032	D	0.01	-12.4796	5.2429	0.15481	0.1953:0.1904:0.6142:0.0	.	50	A0PJX8	TMM82_HUMAN	M	50	ENSP00000364938:V50M	ENSP00000364938:V50M	V	+	1	0	0	TMEM82	15941976	15941976	0.000000	0.05858	0.996000	0.52242	0.935000	0.57460	0.266000	0.18534	0.953000	0.37825	0.556000	0.70494	GTG	0.688767		TCGA-F2-6879-01A-11D-2154-08	0.662	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	1	0	1		2	2	2	0		0	0	15		15	15	1	1.870000	-16.277890	1	0.670000	NM_001013641			13	13		209	203	0		1	0		0	0	15	0		0.999482	0	0	0	0	1	0	13	209
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662																																						ENST00000361200.2	1.000000	4.300000e-01	9.700000e-01	5.800000e-01	0.750000	0.760642	0.750000	1.000000																										1	Substitution - coding silent(1)	p.Y351Y(1)	prostate(1)	89						c.(1051-1053)taC>taT		dual specificity phosphatase 27 (putative)							37.0	41.0	40.0					1																	167095421		2203	4299	6502	SO:0001819	synonymous_variant	92235	0	0					g.chr1:167095421C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1053C>T	chr1.hg19:g.167095421C>T		0					DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y	p.Y351Y			1	2	3	2.149153	Q5VZP5	DUS27_HUMAN		6	1219	+			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	1	1	hg19	c.1053C>T	CCDS30932.1	0																																																																																								0.674364		TCGA-F2-6879-01A-11D-2154-08	0.662	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	1		2	2	2	0		0	0	9		9	9	1	1.870000	-19.999960	1	0.670000	NM_001080426			12	10		37	37	1		1			0	0	9	0		0.999370	0	0	0	0	0	0	12	37
B3GALT2	8707	broad.mit.edu	37	1	193150555	193150555	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:193150555A>C	ENST00000367434.4	-	2	893	c.138T>G	c.(136-138)caT>caG	p.H46Q	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	46					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GCAGCCAGTCATGATGATTGA	0.428																																						ENST00000367434.4	1.000000	1.200000e-01	2.400000e-01	1.500000e-01	0.190000	0.224424	0.190000	0.200000																										0				16						c.(136-138)caT>caG		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							91.0	90.0	91.0					1																	193150555		2203	4300	6503	SO:0001583	missense	8707	0	0					g.chr1:193150555A>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.138T>G	chr1.hg19:g.193150555A>C	ENSP00000356404:p.His46Gln	0					CDC73_ENST00000367435.3_Intron	p.H46Q	NM_003783.3	NP_003774.1	1	2	3	2.145058	O43825	B3GT2_HUMAN		2	893	-			B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	1	1	hg19	c.138T>G	CCDS1383.1	0	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.246213	0.01481	.	.	ENSG00000162630	ENST00000367434	T	0.34859	1.34	5.25	-1.75	0.08031	5.25	-1.75	0.08031	.	0.253868	0.42294	N	0.000722	T	0.12305	0.0299	N	0.03608	-0.345	0.39789	D	0.972407	B	0.06786	0.001	B	0.04013	0.001	T	0.09662	-1.0664	10	0.24483	T	0.36	.	6.4842	0.22079	0.4727:0.0:0.4067:0.1206	.	46	O43825	B3GT2_HUMAN	Q	46	ENSP00000356404:H46Q	ENSP00000356404:H46Q	H	-	3	2	2	B3GALT2	191417178	191417178	0.028000	0.19301	0.996000	0.52242	0.117000	0.20001	-0.633000	0.05483	-0.242000	0.09667	0.533000	0.62120	CAT	0.674364		TCGA-F2-6879-01A-11D-2154-08	0.428	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	1	0	1		2	2	2	0		0	0	32		32	32	1	1.870000	-20.000000	1	0.670000	NM_003783			27	25		391	386	0		1	0		0	0	32	0		1.000000	1.312380e-02	0	0	0	3	0	27	391
HLX	3142	broad.mit.edu	37	1	221057767	221057767	+	Silent	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:221057767G>A	ENST00000366903.6	+	4	2689	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	HLX_ENST00000549319.1_Silent_p.G182G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	396	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGACTGAGGGGAGTGAGCGTT	0.652																																						ENST00000366903.6	1.000000	7.500000e-01	1	8.300000e-01	0.930000	0.924746	0.930000	1.000000																										0				32						c.(1186-1188)ggG>ggA		H2.0-like homeobox							66.0	57.0	60.0					1																	221057767		2203	4300	6503	SO:0001819	synonymous_variant	3142	0	0					g.chr1:221057767G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1188G>A	chr1.hg19:g.221057767G>A		0					HLX_ENST00000549319.1_Silent_p.G182G	p.G396G	NM_021958.3	NP_068777.1	1	2	3	2.145058	Q14774	HLX_HUMAN		4	2689	+			B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	ENST00000366903.6	1	1	hg19	c.1188G>A	CCDS1527.1	1																																																																																								0.674364		TCGA-F2-6879-01A-11D-2154-08	0.652	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	0	0	1		2	2	2	0		0	0	28		28	27	1	1.870000	-20.000000	1	0.670000	NM_021958			67	65		150	143	1		1	1		0	0	28	0		1.000000	1	0	3	0	75	0	67	150
RSPO1	284654	broad.mit.edu	37	1	38079563	38079563	+	Splice_Site	SNP	C	C	T	rs202233461		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:38079563C>T	ENST00000401069.1	-	6	1150	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20078	0.0		0.0	False		,,,				2504	0.0				GBM(122;680 2230 27822 42821)	ENST00000401069.1	1.000000	9.400000e-01	1	9.900000e-01	0.990000	0.996961	0.990000	1.000000																										0				12						c.(436-438)gcG>gcA		R-spondin 1		C	,,,	1,3913		0,1,1956	46.0	49.0	48.0		438,438,357,	-1.3	1.0	1		48	0,8282		0,0,4141	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,intron	RSPO1	NM_001038633.3,NM_001242908.1,NM_001242909.1,NM_001242910.1	,,,	0,1,6097	TT,TC,CC		0.0,0.0255,0.0082	,,,	146/264,146/264,119/237,	38079563	1,12195	1957	4141	6098	SO:0001630	splice_region_variant	284654	5	120878	40				g.chr1:38079563C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.437-1G>A	chr1.hg19:g.38079563C>T		0					RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A	p.A146A	NM_001242908.1	NP_001229837.1	2	2	4	2.227741	Q2MKA7	RSPO1_HUMAN		6	1150	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Splice_Site	SNP	ENST00000401069.1	1	0	hg19	c.438G>A	CCDS41304.1	1																																																																																								0.690722		TCGA-F2-6879-01A-11D-2154-08	0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	1	0	1		2	2	2	0		0	0	45		45	43	1	1.870000	-12.961280	1	0.670000	NM_173640	Silent		116	115		217	212	1		1	0		0	0	45	0		1.000000	6.774471e-01	0	0	0	6	0	116	217
OBSCN	84033	broad.mit.edu	37	1	228479741	228479741	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:228479741C>T	ENST00000422127.1	+	39	10526	c.10482C>T	c.(10480-10482)taC>taT	p.Y3494Y	OBSCN_ENST00000570156.2_Silent_p.Y3923Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y|OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3494	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACAGATACATCCTGAGGC	0.632																																						ENST00000422127.1	1.000000	1.500000e-01	2.700000e-01	1.800000e-01	0.220000	0.251126	0.220000	0.220000																										0				223						c.(10480-10482)taC>taT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							101.0	105.0	104.0					1																	228479741		2074	4188	6262	SO:0001819	synonymous_variant	84033	1	121040	32				g.chr1:228479741C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10482C>T	chr1.hg19:g.228479741C>T		0					OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000570156.2_Silent_p.Y3923Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y	p.Y3494Y	NM_001098623.2	NP_001092093.2	1	2	3	2.145058	Q5VST9	OBSCN_HUMAN		39	10526	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	1	1	hg19	c.10482C>T	CCDS58065.1	0																																																																																								0.674364		TCGA-F2-6879-01A-11D-2154-08	0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	59		59	58	1	1.870000	-9.323665	1	0.670000	NM_052843			34	32		426	411	0		1			0	0	59	0		1.000000	0	0	0	0	0	0	34	426
MYT1	4661	broad.mit.edu	37	20	62838994	62838994	+	Missense_Mutation	SNP	G	G	A	rs546737046	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:62838994G>A	ENST00000328439.1	+	7	809	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.A149T	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATCGGCAGCGCCACTGCCTC	0.552													g|||	2	0.000399361	0.0008	0.0	5008	,	,		16938	0.0		0.0	False		,,,				2504	0.001				GBM(59;481 1041 20555 21139 33705)	ENST00000328439.1	1.000000	8.500000e-01	1	9.100000e-01	0.970000	0.962965	0.970000	1.000000																										0				55						c.(445-447)Gcc>Acc		myelin transcription factor 1							75.0	81.0	79.0					20																	62838994		2203	4300	6503	SO:0001583	missense	4661	42	121412	47				g.chr20:62838994G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.445G>A	chr20.hg19:g.62838994G>A	ENSP00000327465:p.Ala149Thr	1					MYT1_ENST00000536311.1_Missense_Mutation_p.A149T|MYT1_ENST00000360149.4_Intron	p.A149T	NM_004535.2	NP_004526.1	1	2	3	2.773911	Q99640	PMYT1_HUMAN		7	809	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	1	1	hg19	c.445G>A	CCDS13558.1	1	.	.	.	.	.	.	.	.	.	.	g	6.847	0.525511	0.13066	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.45276	0.9;0.91	4.32	-0.391	0.12446	4.32	-0.391	0.12446	.	0.867931	0.10082	N	0.718370	T	0.14227	0.0344	N	0.03608	-0.345	0.20196	N	0.99992	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	10	0.13470	T	0.59	-1.3728	1.1079	0.01698	0.2243:0.3488:0.2532:0.1737	.	149	Q01538	MYT1_HUMAN	T	149	ENSP00000327465:A149T;ENSP00000442412:A149T	ENSP00000327465:A149T	A	+	1	0	0	MYT1	62309438	62309438	0.001000	0.12720	0.061000	0.19648	0.619000	0.37552	-0.116000	0.10724	-0.138000	0.11434	-0.267000	0.10333	GCC	0.752809		TCGA-F2-6879-01A-11D-2154-08	0.552	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1		2	2	2	0		0	0	73		73	73	1	1.870000	-6.339868	1	0.670000	NM_004535			202	194		623	614	1		1			0	0	73	0		1.000000	0	0	0	0	0	0	202	623
TRPM2	7226	broad.mit.edu	37	21	45838383	45838383	+	Nonsense_Mutation	SNP	C	C	T	rs143493112		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:45838383C>T	ENST00000397928.1	+	22	3851	c.3406C>T	c.(3406-3408)Cga>Tga	p.R1136*	TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1136					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCCAGAACCGACAGTTCCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001					ENST00000397928.1	0.980000	7.800000e-01	9.300000e-01	8.300000e-01	0.870000	0.884608	0.870000	0.880000																										0				76						c.(3406-3408)Cga>Tga		transient receptor potential cation channel, subfamily M, member 2		C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	135.0	137.0	137.0		3406	4.8	0.3	21	dbSNP_134	137	12,8588	9.1+/-34.3	0,12,4288	yes	stop-gained	TRPM2	NM_003307.3		0,15,6488	TT,TC,CC		0.1395,0.0681,0.1153		1136/1504	45838383	15,12991	2203	4300	6503	SO:0001587	stop_gained	7226	100	121410	54				g.chr21:45838383C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3406C>T	chr21.hg19:g.45838383C>T	ENSP00000381023:p.Arg1136*	0					TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*	p.R1136*	NM_003307.3	NP_003298	1	2	3	2.119469	O94759	TRPM2_HUMAN		22	3851	+			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	0	1	hg19	c.3406C>T	CCDS13710.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	38	7.041531	0.98021	6.81E-4	0.001395	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.605119	0.16448	N	0.213991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-12.6798	11.4159	0.49951	0.0:0.9154:0.0:0.0846	.	.	.	.	X	1136;1136;1116;1136	.	ENSP00000300481:R1116X	R	+	1	2	2	TRPM2	44662811	44662811	0.834000	0.29399	0.303000	0.25071	0.096000	0.18686	3.140000	0.50585	2.395000	0.81488	0.514000	0.50259	CGA	0.672196		TCGA-F2-6879-01A-11D-2154-08	0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	1	0	1		2	2	2	0		0	0	106		106	103	1	1.870000	-2.665581	1	0.670000	NM_003307			267	265		642	632	0		1	0		0	0	106	0		1.000000	6.572214e-01	0	0	0	7	0	267	642
COL18A1	80781	broad.mit.edu	37	21	46925862	46925862	+	Missense_Mutation	SNP	C	C	A	rs377152291	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:46925862C>A	ENST00000359759.4	+	36	4464	c.4443C>A	c.(4441-4443)aaC>aaA	p.N1481K	COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K|COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1481	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCGTGCAGAACGGGTTCCGGA	0.667																																						ENST00000359759.4	0.920000	6.500000e-01	8.400000e-01	7.100000e-01	0.770000	0.780665	0.770000	0.770000																										0				25						c.(4441-4443)aaC>aaA		collagen, type XVIII, alpha 1							100.0	118.0	112.0					21																	46925862		2091	4187	6278	SO:0001583	missense	80781	0	0					g.chr21:46925862C>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4443C>A	chr21.hg19:g.46925862C>A	ENSP00000352798:p.Asn1481Lys	0					SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K|COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K	p.N1481K			1	2	3	2.119469	P39060	COIA1_HUMAN		36	4464	+			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	1	1	hg19	c.4443C>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.714181|1.714181	0.30413|0.30413	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.39787|.	1.06;1.06;1.06;1.06|.	3.69|3.69	-5.5|-5.5	0.02576|0.02576	3.69|3.69	-5.5|-5.5	0.02576|0.02576	Collagenase NC10/endostatin (1);|.	0.392987|.	0.24798|.	U|.	0.035513|.	T|T	0.41604|0.41604	0.1166|0.1166	L|L	0.41236|0.41236	1.265|1.265	0.34304|0.34304	D|D	0.684693|0.684693	D;P;P;P|.	0.53312|.	0.959;0.8;0.949;0.901|.	P;B;P;B|.	0.55055|.	0.767;0.392;0.655;0.338|.	T|T	0.49000|0.49000	-0.8984|-0.8984	10|5	0.10377|.	T|.	0.69|.	.|.	7.3656|7.3656	0.26770|0.26770	0.0:0.1979:0.1207:0.6814|0.0:0.1979:0.1207:0.6814	.|.	1481;1063;1246;1066|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	K|K	1066;1066;1246;1481;1481;414|62	ENSP00000383191:N1066K;ENSP00000347665:N1246K;ENSP00000352798:N1481K;ENSP00000339118:N414K|.	ENSP00000339118:N414K|.	N|T	+|+	3|2	2|0	2|0	COL18A1|COL18A1	45750290|45750290	45750290|45750290	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.156000|0.156000	0.22039|0.22039	-1.776000|-1.776000	0.01781|0.01781	-1.191000|-1.191000	0.02695|0.02695	-0.658000|-0.658000	0.03865|0.03865	AAC|ACG	0.672196		TCGA-F2-6879-01A-11D-2154-08	0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	1		2	2	2	0		0	0	62		62	59	1	1.870000	-3.143212	1	0.670000				117	117		336	331	1		1	1		0	0	62	1		1.000000	1	0	4	0	190	0	117	336
OSBPL6	114880	broad.mit.edu	37	2	179193055	179193055	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:179193055G>A	ENST00000190611.4	+	5	644	c.268G>A	c.(268-270)Gag>Aag	p.E90K	OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000477097.1_3'UTR	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	90	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGACAAACATGAGGGCTTTAT	0.378																																						ENST00000190611.4	0.270000	1.200000e-01	2.300000e-01	1.500000e-01	0.190000	0.197472	0.190000	0.190000																										0				46						c.(268-270)Gag>Aag		oxysterol binding protein-like 6							103.0	106.0	105.0					2																	179193055		2203	4300	6503	SO:0001583	missense	114880	0	0					g.chr2:179193055G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.268G>A	chr2.hg19:g.179193055G>A	ENSP00000190611:p.Glu90Lys	0					OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K	p.E90K	NM_032523.3	NP_115912.1	0	0	0	2.057908	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)	5	644	+			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	1	1	hg19	c.268G>A	CCDS2277.1	0	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939758	0.92526	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.14893	2.55;2.51;2.47;2.53;2.54;2.51;2.56	5.49	5.49	0.81192	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	L	0.60957	1.885	0.80722	D	1	B;D;D;D;D;D	0.76494	0.421;0.999;0.996;0.999;0.997;0.998	B;D;D;D;D;D	0.83275	0.399;0.993;0.981;0.996;0.98;0.991	T	0.03695	-1.1012	10	0.15952	T	0.53	-18.931	19.3787	0.94523	0.0:0.0:1.0:0.0	.	90;69;90;90;90;90	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	K	90;90;90;90;90;90;69	ENSP00000376293:E90K;ENSP00000352713:E90K;ENSP00000349591:E90K;ENSP00000387248:E90K;ENSP00000190611:E90K;ENSP00000386885:E90K;ENSP00000318723:E69K	ENSP00000190611:E90K	E	+	1	0	0	OSBPL6	178901301	178901301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.577000	0.86979	0.655000	0.94253	GAG	0.665518		TCGA-F2-6879-01A-11D-2154-08	0.378	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	1	0	1		2	2	2	0		0	0	23		23	23	1	1.870000	-3.318774	1	0.670000	NM_032523			28	28		402	396	0		1	0		0	0	23	0		1.000000	0	0	0	0	1	0	28	402
ZDBF2	57683	broad.mit.edu	37	2	207174767	207174767	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:207174767G>A	ENST00000374423.3	+	5	5901	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1839							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGAGAGAAGATGACATAAA	0.413																																						ENST00000374423.3	1.000000	8.200000e-01	1	9.100000e-01	0.990000	0.967908	0.990000	1.000000																										0				95						c.(5515-5517)Gat>Aat		zinc finger, DBF-type containing 2							76.0	74.0	75.0					2																	207174767		1869	4108	5977	SO:0001583	missense	57683	0	0					g.chr2:207174767G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5515G>A	chr2.hg19:g.207174767G>A	ENSP00000363545:p.Asp1839Asn	0						p.D1839N	NM_020923.1	NP_065974.1	0	0	0	2.057908	Q9HCK1	ZDBF2_HUMAN		5	5901	+			Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	1	1	hg19	c.5515G>A	CCDS46501.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233468	0.79688	.	.	ENSG00000204186	ENST00000374423	T	0.71934	-0.61	5.48	4.56	0.56223	5.48	4.56	0.56223	.	.	.	.	.	T	0.63663	0.2530	L	0.53249	1.67	0.32979	D	0.523413	P	0.46859	0.885	B	0.37601	0.254	T	0.73329	-0.4017	9	0.46703	T	0.11	.	12.884	0.58032	0.0832:0.0:0.9168:0.0	.	1839	Q9HCK1	ZDBF2_HUMAN	N	1839	ENSP00000363545:D1839N	ENSP00000363545:D1839N	D	+	1	0	0	ZDBF2	206883012	206883012	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.969000	0.56816	1.244000	0.43870	0.551000	0.68910	GAT	0.665518		TCGA-F2-6879-01A-11D-2154-08	0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1		2	2	2	0		0	0	19		19	19	1	1.870000	-20.000000	1	0.670000	NM_020923			80	80		154	152	1		1	0		0	0	19	0		1.000000	0	0	0	0	1	0	80	154
IGSF10	285313	broad.mit.edu	37	3	151160955	151160955	+	Missense_Mutation	SNP	C	C	T	rs370577126		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:151160955C>T	ENST00000282466.3	-	5	5779	c.5780G>A	c.(5779-5781)cGa>cAa	p.R1927Q	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1927	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTACTCTTCGCTCCGAACC	0.433																																						ENST00000282466.3	1.000000	8.800000e-01	1	9.300000e-01	0.980000	0.972819	0.980000	1.000000																										0				116						c.(5779-5781)cGa>cAa		immunoglobulin superfamily, member 10		C	GLN/ARG	0,4406		0,0,2203	111.0	114.0	113.0		5780	4.1	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1927/2624	151160955	1,13005	2203	4300	6503	SO:0001583	missense	285313	13	121412	44				g.chr3:151160955C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5780G>A	chr3.hg19:g.151160955C>T	ENSP00000282466:p.Arg1927Gln	0					IGSF10_ENST00000495443.1_5'Flank	p.R1927Q	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	1	2	3	2.107791	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	5	5779	-			Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	1	1	hg19	c.5780G>A	CCDS3160.1	1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360817	0.61403	0.0	1.16E-4	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66099	-0.19	5.01	4.1	0.47936	5.01	4.1	0.47936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000082	T	0.72503	0.3468	L	0.48642	1.525	0.38886	D	0.957016	D	0.89917	1.0	D	0.91635	0.999	T	0.73251	-0.4042	9	.	.	.	.	14.9921	0.71396	0.0:0.8565:0.1435:0.0	.	1927	Q6WRI0	IGS10_HUMAN	Q	1927;554	ENSP00000282466:R1927Q	.	R	-	2	0	0	IGSF10	152643645	152643645	0.976000	0.34144	0.759000	0.31340	0.552000	0.35366	4.862000	0.62976	1.055000	0.40461	0.591000	0.81541	CGA	0.671102		TCGA-F2-6879-01A-11D-2154-08	0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1		2	2	2	0		0	0	64		64	62	1	1.870000	-20.000000	1	0.670000	NM_178822			233	227		473	467	1		1	0		0	0	64	0		1.000000	1.092394e-01	0	1	0	1	0	233	473
SAMD7	344658	broad.mit.edu	37	3	169644398	169644398	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:169644398C>T	ENST00000428432.2	+	6	737	c.348C>T	c.(346-348)ccC>ccT	p.P116P	SAMD7_ENST00000335556.3_Silent_p.P116P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	116										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAATTAATCCCAAGGGACTAG	0.478																																						ENST00000428432.2	1.000000	7.900000e-01	9.900000e-01	8.500000e-01	0.920000	0.922554	0.920000	1.000000																										0				31						c.(346-348)ccC>ccT		sterile alpha motif domain containing 7							45.0	48.0	47.0					3																	169644398		2203	4300	6503	SO:0001819	synonymous_variant	344658	0	0					g.chr3:169644398C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.348C>T	chr3.hg19:g.169644398C>T		0					SAMD7_ENST00000335556.3_Silent_p.P116P	p.P116P	NM_182610.2	NP_872416.1	1	2	3	2.107791	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)	6	737	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)			Silent	SNP	ENST00000428432.2	1	1	hg19	c.348C>T	CCDS3209.1	1																																																																																								0.671102		TCGA-F2-6879-01A-11D-2154-08	0.478	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	1	0	1		2	2	2	0		0	0	31		31	30	1	1.870000	-10.366950	1	0.670000	NM_182610			136	134		304	298	1		1			0	0	31	0		1.000000	0	0	0	0	0	0	136	304
ZNF662	389114	broad.mit.edu	37	3	42950359	42950359	+	Missense_Mutation	SNP	C	C	T	rs201335459	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:42950359C>T	ENST00000541208.1	+	3	478	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W|KRBOX1_ENST00000426937.1_5'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCGGTTCCTCGGGGAGCTCT	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15738	0.001		0.0	False		,,,				2504	0.0					ENST00000541208.1	1.000000	8.100000e-01	1	8.700000e-01	0.930000	0.932642	0.930000	1.000000																										0				15						c.(109-111)Cgg>Tgg		zinc finger protein 662		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	70.0	75.0	73.0		289,109	0.5	0.0	3		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF662	NM_001134656.1,NM_207404.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	97/453,37/427	42950359	1,13005	2203	4300	6503	SO:0001583	missense	389114	6	121380	40				g.chr3:42950359C>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.109C>T	chr3.hg19:g.42950359C>T	ENSP00000446208:p.Arg37Trp	0					KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W	p.R37W			1	2	3	2.102732	Q6ZS27	ZN662_HUMAN		3	478	+			A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	1	1	hg19	c.109C>T	CCDS2708.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	1.020	-0.685146	0.03328	0.0	1.16E-4	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208;ENST00000422021	T;T;T	0.08546	3.08;3.12;3.08	3.08	0.535	0.17133	3.08	0.535	0.17133	Krueppel-associated box (1);	.	.	.	.	T	0.12817	0.0311	M	0.82823	2.61	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	9	0.37606	T	0.19	.	9.101	0.36669	0.0:0.7309:0.0:0.2691	.	97;37	F8W7S8;Q6ZS27	.;ZN662_HUMAN	W	37;97;37;37	ENSP00000405047:R37W;ENSP00000329264:R97W;ENSP00000446208:R37W	ENSP00000329264:R97W	R	+	1	2	2	ZNF662	42925363	42925363	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.072000	0.11486	-0.317000	0.08677	-1.134000	0.01955	CGG	0.671102		TCGA-F2-6879-01A-11D-2154-08	0.542	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	1	0	1		2	2	2	0		0	0	31		31	30	1	1.870000	-12.661240	1	0.670000	NM_207404			166	166		365	360	0		1	0		0	0	31	0		1.000000	3.719609e-01	0	1	0	3	0	166	365
CPN2	1370	broad.mit.edu	37	3	194062372	194062372	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:194062372G>A	ENST00000323830.3	-	2	1149	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	CPN2_ENST00000429275.1_Missense_Mutation_p.P354S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	354					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGAGGGCTGGGTGCAGCGCC	0.562																																						ENST00000323830.3	1.000000	8.600000e-01	1	9.400000e-01	0.990000	0.979953	0.990000	1.000000																										0				27						c.(1060-1062)Cca>Tca		carboxypeptidase N, polypeptide 2							72.0	76.0	74.0					3																	194062372		2203	4300	6503	SO:0001583	missense	1370	0	0					g.chr3:194062372G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1060C>T	chr3.hg19:g.194062372G>A	ENSP00000319464:p.Pro354Ser	0					CPN2_ENST00000429275.1_Missense_Mutation_p.P354S	p.P354S	NM_001080513.2	NP_001073982	1	2	3	2.139295	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	2	1149	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	1	1	hg19	c.1060C>T	CCDS33920.1	1	.	.	.	.	.	.	.	.	.	.	G	0.420	-0.908595	0.02434	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.23950	1.88;1.88	5.56	0.155	0.14906	5.56	0.155	0.14906	.	0.211850	0.24065	N	0.041861	T	0.11239	0.0274	N	0.17474	0.49	0.09310	N	1	B	0.17667	0.023	B	0.20577	0.03	T	0.35919	-0.9769	10	0.08179	T	0.78	.	6.8929	0.24241	0.0642:0.3887:0.3736:0.1736	.	354	P22792	CPN2_HUMAN	S	354	ENSP00000319464:P354S;ENSP00000402232:P354S	ENSP00000319464:P354S	P	-	1	0	0	CPN2	195544067	195544067	0.034000	0.19679	0.024000	0.17045	0.784000	0.44337	-0.044000	0.12023	0.080000	0.16959	0.655000	0.94253	CCA	0.674364		TCGA-F2-6879-01A-11D-2154-08	0.562	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	1	0	1		2	2	2	0		0	0	45		45	45	1	1.870000	-11.615470	1	0.670000	NM_001080513			108	104		211	202	1		1	0		0	0	45	0		1.000000	0	0	0	0	1	0	108	211
ARSI	340075	broad.mit.edu	37	5	149677192	149677192	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:149677192C>T	ENST00000328668.7	-	2	1874	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	432					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCCATAGCCGGGGTCTCC	0.657																																						ENST00000328668.7	1.000000	9.600000e-01	1	9.900000e-01	0.990000	0.997940	0.990000	1.000000																										0				23						c.(1294-1296)gGc>gAc		arylsulfatase family, member I							33.0	37.0	36.0					5																	149677192		2203	4300	6503	SO:0001583	missense	340075	0	0					g.chr5:149677192C>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1295G>A	chr5.hg19:g.149677192C>T	ENSP00000333395:p.Gly432Asp	0						p.G432D	NM_001012301.2	NP_001012301.1	1	2	3	2.125628	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	2	1874	-			A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	1	1	hg19	c.1295G>A	CCDS34275.1	1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481846	0.63849	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.98313	-4.86;-4.86	4.45	4.45	0.53987	4.45	4.45	0.53987	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97760	1.0220	10	0.27785	T	0.31	.	17.2703	0.87099	0.0:1.0:0.0:0.0	.	432	Q5FYB1	ARSI_HUMAN	D	432;289	ENSP00000333395:G432D;ENSP00000426879:G289D	ENSP00000333395:G432D	G	-	2	0	0	ARSI	149657385	149657385	1.000000	0.71417	0.899000	0.35326	0.734000	0.41952	7.320000	0.79064	2.296000	0.77279	0.561000	0.74099	GGC	0.672196		TCGA-F2-6879-01A-11D-2154-08	0.657	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	1	0	1		2	2	2	0		0	0	41		41	40	1	1.870000	-20.000000	1	0.670000	NM_001012301			138	136		235	234	1		1	0		0	0	41	0		1.000000	9.664080e-01	0	0	0	12	0	138	235
ADAMTS16	170690	broad.mit.edu	37	5	5303737	5303737	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:5303737G>A	ENST00000274181.7	+	20	3182	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1015	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						GCCTGTAAGAGCACCAACCCC	0.627																																						ENST00000274181.7	0.200000	5.000000e-02	1.600000e-01	8.000000e-02	0.110000	0.126600	0.110000	0.120000																										0				107						c.(3043-3045)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							48.0	58.0	54.0					5																	5303737		2164	4263	6427	SO:0001583	missense	170690	0	0					g.chr5:5303737G>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.3044G>A	chr5.hg19:g.5303737G>A	ENSP00000274181:p.Ser1015Asn	0						p.S1015N	NM_139056.2	NP_620687.2	0	1	1	2.079448	Q8TE57	ATS16_HUMAN		20	3182	+			C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	1	1	hg19	c.3044G>A	CCDS43299.1	0	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689063	0.68271	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.65	3.78	0.43462	4.65	3.78	0.43462	.	0.049330	0.85682	D	0.000000	T	0.45236	0.1332	L	0.40543	1.245	0.38037	D	0.93534	B;P	0.35033	0.241;0.481	B;B	0.41088	0.244;0.347	T	0.36696	-0.9737	10	0.17832	T	0.49	.	10.7639	0.46281	0.0945:0.0:0.9055:0.0	.	1015;1015	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	N	1015	ENSP00000274181:S1015N	ENSP00000274181:S1015N	S	+	2	0	0	ADAMTS16	5356737	5356737	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.713000	0.54882	1.069000	0.40788	0.650000	0.86243	AGC	0.668891		TCGA-F2-6879-01A-11D-2154-08	0.627	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	0	1		2	2	2	0		0	0	44		44	44	1	1.870000	-11.737130	1	0.670000	NM_139056			10	10		246	239	0		1	0		0	0	44	0		0.996596	1.975397e-03	0	0	0	2	0	10	246
ZFR	51663	broad.mit.edu	37	5	32364367	32364367	+	Silent	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:32364367T>C	ENST00000265069.8	-	18	2952	c.2850A>G	c.(2848-2850)ctA>ctG	p.L950L	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	950	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTTCTCTACTAGTAACTCCA	0.343																																						ENST00000265069.8	1.000000	9.800000e-01	1	9.900000e-01	0.990000	0.999181	0.990000	1.000000																										0				32						c.(2848-2850)ctA>ctG		zinc finger RNA binding protein							68.0	69.0	69.0					5																	32364367		2203	4300	6503	SO:0001819	synonymous_variant	51663	0	0					g.chr5:32364367T>C	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2850A>G	chr5.hg19:g.32364367T>C		0					ZFR_ENST00000510369.1_5'UTR	p.L950L	NM_016107.3	NP_057191.2	0	1	1	2.079448	Q96KR1	ZFR_HUMAN		18	2952	-			B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	1	1	hg19	c.2850A>G	CCDS34139.1	1																																																																																								0.668891		TCGA-F2-6879-01A-11D-2154-08	0.343	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1	1	0	1		2	2	2	0		0	0	44		44	44	1	1.870000	-20.000000	1	0.670000				140	140		225	223	1		1	1		0	0	44	0		1.000000	1	0	52	0	104	0	140	225
EGFLAM	133584	broad.mit.edu	37	5	38337656	38337656	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:38337656C>T	ENST00000354891.3	+	2	478	c.132C>T	c.(130-132)ggC>ggT	p.G44G	EGFLAM_ENST00000322350.5_Silent_p.G44G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	44	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAAGCTGGGCGCATTGAACT	0.512																																					Colon(62;485 1295 3347 17454)	ENST00000354891.3	0.960000	3.600000e-01	7.900000e-01	4.800000e-01	0.620000	0.639235	0.620000	0.620000																										0				85						c.(130-132)ggC>ggT		EGF-like, fibronectin type III and laminin G domains							93.0	71.0	78.0					5																	38337656		2203	4300	6503	SO:0001819	synonymous_variant	133584	1	121374	25				g.chr5:38337656C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.132C>T	chr5.hg19:g.38337656C>T		0					EGFLAM_ENST00000322350.5_Silent_p.G44G	p.G44G	NM_001205301.1	NP_001192230.1	1	2	3	2.114355	Q63HQ2	EGFLA_HUMAN		2	478	+	all_lung(31;0.000385)		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	1	1	hg19	c.132C>T	CCDS56363.1	0																																																																																								0.671102		TCGA-F2-6879-01A-11D-2154-08	0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	1	0	1		2	2	2	0		0	0	10		10	10	1	1.870000	-19.999950	1	0.670000	NM_152403			13	13		50	48	1		1	0		0	0	10	0		0.999660	6.501796e-01	0	0	0	10	0	13	50
FLT4	2324	broad.mit.edu	37	5	180039610	180039610	+	Splice_Site	SNP	G	G	A	rs202140363		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:180039610G>A	ENST00000261937.6	-	26	3511	c.3433C>T	c.(3433-3435)Cgc>Tgc	p.R1145C	FLT4_ENST00000502649.1_Splice_Site_p.R1145C|FLT4_ENST00000393347.3_Splice_Site_p.R1145C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGCGGCGTCTGCAGGAT	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6	0.270000	9.000000e-02	2.100000e-01	1.200000e-01	0.160000	0.181908	0.160000	0.160000																										0				71						c.(3433-3435)Cgc>Tgc		fms-related tyrosine kinase 4	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						64.0	64.0	64.0					5																	180039610		2203	4300	6503	SO:0001630	splice_region_variant	2324	7	121412	39				g.chr5:180039610G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3432-1C>T	chr5.hg19:g.180039610G>A		0					FLT4_ENST00000502649.1_Splice_Site_p.R1145C|FLT4_ENST00000393347.3_Splice_Site_p.R1145C	p.R1145C	NM_182925.4	NP_891555.2	1	2	3	2.125628	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	26	3511	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	1	0	hg19	c.3433C>T	CCDS4457.1	0	.	.	.	.	.	.	.	.	.	.	g	14.52	2.561024	0.45590	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.82984	-1.67;-1.67;-1.67	3.57	3.57	0.40892	3.57	3.57	0.40892	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81683	0.4874	L	0.35487	1.065	0.52501	D	0.999952	D;D	0.61697	0.99;0.99	P;P	0.61658	0.892;0.892	T	0.81304	-0.0993	9	0.87932	D	0	.	4.5402	0.12054	0.3012:0.0:0.6988:0.0	.	1145;1145	E9PD35;P35916	.;VGFR3_HUMAN	C	1145	ENSP00000261937:R1145C;ENSP00000377016:R1145C;ENSP00000426057:R1145C	ENSP00000261937:R1145C	R	-	1	0	0	FLT4	179972216	179972216	1.000000	0.71417	0.961000	0.40146	0.110000	0.19582	5.246000	0.65411	2.011000	0.59026	0.457000	0.33378	CGC	0.672196		TCGA-F2-6879-01A-11D-2154-08	0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1		2	2	2	0		0	0	26		26	26	1	1.870000	-19.702080	1	0.670000		Missense_Mutation		18	16		308	308	0		1	0		0	0	26	0		0.999983	1.728918e-01	0	0	0	13	0	18	308
TCTE1	202500	broad.mit.edu	37	6	44254103	44254103	+	Silent	SNP	G	G	A	rs146051785		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:44254103G>A	ENST00000371505.4	-	3	566	c.444C>T	c.(442-444)ggC>ggT	p.G148G	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TCTE1_ENST00000371504.1_5'Flank	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	148										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTGCCGCCATGGTGGG	0.607																																						ENST00000371505.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				34						c.(442-444)ggC>ggT		t-complex-associated-testis-expressed 1		G		1,4405	2.1+/-5.4	0,1,2202	70.0	64.0	66.0		444	-3.5	0.9	6	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TCTE1	NM_182539.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		148/502	44254103	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	202500	6	121412	39				g.chr6:44254103G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.444C>T	chr6.hg19:g.44254103G>A		1					RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank	p.G148G	NM_182539.3	NP_872345.2	1	2	3	2.443262	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)	3	566	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	1	1	hg19	c.444C>T	CCDS4910.1	1																																																																																								0.709852		TCGA-F2-6879-01A-11D-2154-08	0.607	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	1	0	1		2	2	2	0		0	0	29		29	28	1	1.870000	-20.000000	1	0.670000	NM_182539			221	218		291	286	0		1			0	0	29	0		1.000000	0	0	0	0	0	0	221	291
RIMS1	22999	broad.mit.edu	37	6	73043409	73043409	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:73043409G>A	ENST00000521978.1	+	29	4237	c.4237G>A	c.(4237-4239)Ggc>Agc	p.G1413S	RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.G1262S|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S|RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1413					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCATAATGACGGCAGCCAGTC	0.522																																						ENST00000521978.1	0.990000	5.600000e-01	9.400000e-01	6.900000e-01	0.820000	0.819524	0.820000	0.870000																										0				102						c.(4237-4239)Ggc>Agc		regulating synaptic membrane exocytosis 1							52.0	59.0	57.0					6																	73043409		2057	4192	6249	SO:0001583	missense	22999	0	0					g.chr6:73043409G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4237G>A	chr6.hg19:g.73043409G>A	ENSP00000428417:p.Gly1413Ser	1					RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.G1262S	p.G1413S	NM_014989.5	NP_055804.2	0	1	1	1.412667	Q86UR5	RIMS1_HUMAN		29	4237	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	0	1	hg19	c.4237G>A	CCDS47449.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444142|5.444142	0.96187|0.96187	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T|.	0.22945|.	2.22;2.42;2.34;2.42;2.26;2.34;2.23;1.94;1.93|.	5.66|5.66	5.66|5.66	0.87406|0.87406	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.64821|0.64821	0.2633|0.2633	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.985;1.0;1.0;1.0;1.0|.	D;D;P;D;D;D;D|.	0.91635|.	0.94;0.996;0.681;0.998;0.999;0.999;0.994|.	T|T	0.58825|0.58825	-0.7568|-0.7568	10|5	0.62326|.	D|.	0.03|.	-22.5976|-22.5976	20.1225|20.1225	0.97967|0.97967	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	219;1262;733;1196;489;1236;1413|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	S|Q	1236;1262;1236;1196;1262;1196;1413;733;578;461;219|758	ENSP00000430101:G1236S;ENSP00000275037:G1196S;ENSP00000264839:G1262S;ENSP00000429959:G1196S;ENSP00000428417:G1413S;ENSP00000385649:G733S;ENSP00000389503:G578S;ENSP00000359448:G461S;ENSP00000439730:G219S|.	ENSP00000264839:G1262S|.	G|R	+|+	1|2	0|0	0|0	RIMS1|RIMS1	73100130|73100130	73100130|73100130	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	9.813000|9.813000	0.99286|0.99286	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GGC|CGG	0.503759		TCGA-F2-6879-01A-11D-2154-08	0.522	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	1	0	1		2	2	2	0		0	0	11		11	10	1	1.870000	-20.000000	1	0.670000				17	17		21	21	1		1			0	0	11	0		0.999995	0	0	0	0	0	0	17	21
ZFPM2	23414	broad.mit.edu	37	8	106815014	106815014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:106815014C>T	ENST00000407775.2	+	8	2954	c.2704C>T	c.(2704-2706)Cga>Tga	p.R902*	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	902					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R902*(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAGCGAACGAAACAGCCC	0.458																																						ENST00000407775.2	1.000000	8.100000e-01	1	9.400000e-01	0.990000	0.977886	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R902*(1)	large_intestine(1)	99						c.(2704-2706)Cga>Tga		zinc finger protein, FOG family member 2							46.0	45.0	45.0					8																	106815014		1930	4141	6071	SO:0001587	stop_gained	23414	0	0					g.chr8:106815014C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2704C>T	chr8.hg19:g.106815014C>T	ENSP00000384179:p.Arg902*	1					ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.R902*	NM_012082.3	NP_036214.2	1	2	3	2.726968	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)	8	2954	+			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	0	1	hg19	c.2704C>T	CCDS47908.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.984063	0.97173	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.57	3.73	0.42828	5.57	3.73	0.42828	.	0.176149	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	14.4956	0.67685	0.5405:0.4595:0.0:0.0	.	.	.	.	X	902;770;770;633	.	ENSP00000367733:R633X	R	+	1	2	2	ZFPM2	106884190	106884190	1.000000	0.71417	0.973000	0.42090	0.869000	0.49853	1.600000	0.36762	0.663000	0.31027	-0.284000	0.09977	CGA	0.750303		TCGA-F2-6879-01A-11D-2154-08	0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	1	0	1		2	2	2	0		0	0	15		15	15	1	1.870000	-20.000000	1	0.670000				41	41		109	106	0		1	0		0	0	15	0		1.000000	9.706830e-01	0	0	0	18	0	41	109
TRHR	7201	broad.mit.edu	37	8	110131289	110131289	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:110131289C>T	ENST00000518632.1	+	3	1153	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	TRHR_ENST00000311762.2_Silent_p.L268L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	268					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CACCAAGATGCTGGCAGTGGT	0.418																																						ENST00000518632.1	1.000000	8.700000e-01	1	9.100000e-01	0.950000	0.957841	0.950000	1.000000																										0				37						c.(802-804)Ctg>Ttg		thyrotropin-releasing hormone receptor							240.0	235.0	237.0					8																	110131289		2203	4300	6503	SO:0001819	synonymous_variant	7201	0	0					g.chr8:110131289C>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.802C>T	chr8.hg19:g.110131289C>T		1					TRHR_ENST00000311762.2_Silent_p.L268L	p.L268L			1	2	3	2.726968	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)	3	1153	+			Q2M339	Silent	SNP	ENST00000518632.1	1	1	hg19	c.802C>T	CCDS6311.1	1																																																																																								0.750303		TCGA-F2-6879-01A-11D-2154-08	0.418	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1	1	0	1		2	2	2	0		0	0	131		131	128	1	1.870000	-20.000000	1	0.670000				477	461		1485	1448	1		1			0	0	131	0		1.000000	0	0	0	0	0	0	477	1485
MSR1	4481	broad.mit.edu	37	8	15967630	15967630	+	Silent	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:15967630T>C	ENST00000262101.5	-	10	1441	c.1320A>G	c.(1318-1320)tcA>tcG	p.S440S	MSR1_ENST00000355282.2_Silent_p.S377S|MSR1_ENST00000350896.3_Silent_p.S377S|MSR1_ENST00000445506.2_Silent_p.S458S			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCAGAATGTGAACAGGCTC	0.378																																						ENST00000262101.5	1.000000	9.000000e-01	1	9.400000e-01	0.980000	0.979245	0.980000	1.000000																										0				37						c.(1318-1320)tcA>tcG		macrophage scavenger receptor 1							93.0	94.0	94.0					8																	15967630		2203	4300	6503	SO:0001819	synonymous_variant	4481	0	0					g.chr8:15967630T>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1320A>G	chr8.hg19:g.15967630T>C		1					MSR1_ENST00000350896.3_Silent_p.S377S|MSR1_ENST00000355282.2_Silent_p.S377S|MSR1_ENST00000445506.2_Silent_p.S458S	p.S440S			0	1	1	1.474836	P21757	MSRE_HUMAN		10	1441	-			D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	1	1	hg19	c.1320A>G	CCDS5995.1	1																																																																																								0.506247		TCGA-F2-6879-01A-11D-2154-08	0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2	1	0	1		2	2	2	0		0	0	67		67	66	1	1.870000	-20.000000	1	0.670000				179	179		161	159	1		1	0		0	0	67	0		1.000000	1	0	0	0	42	0	179	161
TMEM67	91147	broad.mit.edu	37	8	94767364	94767364	+	Splice_Site	SNP	A	A	G			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:94767364A>G	ENST00000453321.3	+	1	280	c.222A>G	c.(220-222)cgA>cgG	p.R74R	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	74					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGATGCCCGAGGTAAGACGG	0.552																																						ENST00000453321.3	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(220-222)cgA>cgG		transmembrane protein 67							82.0	81.0	81.0					8																	94767364		2203	4300	6503	SO:0001630	splice_region_variant	91147	0	0					g.chr8:94767364A>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.223+1A>G	chr8.hg19:g.94767364A>G		1					TMEM67_ENST00000409623.3_5'UTR	p.R74R	NM_153704.5	NP_714915.3	1	2	3	2.726968	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)	1	280	+	Breast(36;4.14e-07)		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Splice_Site	SNP	ENST00000453321.3	1	0	hg19	c.222A>G	CCDS6258.2	1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787392	0.31593	.	.	ENSG00000164953	ENST00000521517	D	0.92699	-3.09	5.35	0.149	0.14863	5.35	0.149	0.14863	.	0.907118	0.09652	N	0.773578	D	0.91129	0.7207	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84821	0.0796	7	0.56958	D	0.05	1.5014	4.9979	0.14249	0.5177:0.1558:0.3265:0.0	.	.	.	.	G	72	ENSP00000430740:R72G	ENSP00000427947:R73G	R	+	1	2	2	TMEM67	94836540	94836540	0.805000	0.28982	0.152000	0.22495	0.824000	0.46624	0.741000	0.26202	-0.097000	0.12307	0.477000	0.44152	AGG	0.750303		TCGA-F2-6879-01A-11D-2154-08	0.552	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	1	0	1		2	2	2	0		0	0	84		84	80	1	1.870000	-20.000000	1	0.670000	NM_153704	Silent		289	285		340	334	1		1	1		0	0	84	0		1.000000	9.994935e-01	0	5	0	12	0	289	340
KLHL38	340359	broad.mit.edu	37	8	124664206	124664206	+	Missense_Mutation	SNP	G	G	A	rs375114991		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:124664206G>A	ENST00000325995.7	-	1	984	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	321										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTGTACAGCCGTGTCGGGAGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20169	0.0		0.0	False		,,,				2504	0.0					ENST00000325995.7	1.000000	8.500000e-01	1	9.300000e-01	0.990000	0.977237	0.990000	1.000000																										0				38						c.(961-963)Cgg>Tgg		kelch-like family member 38		G	TRP/ARG	1,4035		0,1,2017	70.0	73.0	72.0		961	4.3	0.7	8		72	1,8333		0,1,4166	no	missense	KLHL38	NM_001081675.2	101	0,2,6183	AA,AG,GG		0.012,0.0248,0.0162	probably-damaging	321/582	124664206	2,12368	2018	4167	6185	SO:0001583	missense	340359	12	120944	43				g.chr8:124664206G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.961C>T	chr8.hg19:g.124664206G>A	ENSP00000321475:p.Arg321Trp	1					CTD-2552K11.2_ENST00000524355.1_RNA	p.R321W	NM_001081675.2	NP_001075144.2	1	2	3	2.726968	Q2WGJ6	KLH38_HUMAN		1	984	-			A0PK12	Missense_Mutation	SNP	ENST00000325995.7	1	1	hg19	c.961C>T	CCDS43766.1	1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974222	0.34848	2.48E-4	1.2E-4	ENSG00000175946	ENST00000325995	T	0.67523	-0.27	5.18	4.3	0.51218	5.18	4.3	0.51218	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.81802	2.56	0.52501	D	0.999951	D	0.71674	0.998	P	0.60949	0.881	T	0.79978	-0.1575	10	0.49607	T	0.09	.	11.7522	0.51855	0.0:0.1336:0.7277:0.1387	.	321	Q2WGJ6	KLH38_HUMAN	W	321	ENSP00000321475:R321W	ENSP00000321475:R321W	R	-	1	2	2	KLHL38	124733387	124733387	1.000000	0.71417	0.702000	0.30337	0.211000	0.24417	5.438000	0.66550	1.290000	0.44636	-0.314000	0.08810	CGG	0.750303		TCGA-F2-6879-01A-11D-2154-08	0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1	1	0	1		2	2	2	0		0	0	21		21	21	1	1.870000	-3.319442	1	0.670000				112	111		322	319	1		1			0	0	21	0		1.000000	0	0	0	0	0	0	112	322
COL5A1	1289	broad.mit.edu	37	9	137674564	137674564	+	Missense_Mutation	SNP	C	C	T	rs185912761	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:137674564C>T	ENST00000371817.3	+	29	2896	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	828	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGGTGATCGGGTGAGCAT	0.587													C|||	2	0.000399361	0.0	0.0029	5008	,	,		16972	0.0		0.0	False		,,,				2504	0.0					ENST00000371817.3	1.000000	7.800000e-01	9.400000e-01	8.300000e-01	0.880000	0.889593	0.880000	0.880000																										0				115						c.(2482-2484)Cgg>Tgg		collagen, type V, alpha 1		C	TRP/ARG	0,4406		0,0,2203	218.0	212.0	214.0		2482	3.1	1.0	9		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	828/1839	137674564	1,13005	2203	4300	6503	SO:0001583	missense	1289	18	121410	47				g.chr9:137674564C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2482C>T	chr9.hg19:g.137674564C>T	ENSP00000360882:p.Arg828Trp	0						p.R828W	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	1	2	3	2.164150	P20908	CO5A1_HUMAN		29	2896	+		Myeloproliferative disorder(178;0.0341)	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	1	1	hg19	c.2482C>T	CCDS6982.1	1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	18.35	3.605486	0.66445	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.97041	-4.22	4.18	3.11	0.35812	4.18	3.11	0.35812	.	0.064543	0.64402	U	0.000016	D	0.97300	0.9117	M	0.85859	2.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.95502	0.8578	10	0.72032	D	0.01	.	8.9457	0.35758	0.4494:0.5506:0.0:0.0	.	828	P20908	CO5A1_HUMAN	W	828	ENSP00000360882:R828W	ENSP00000360882:R828W	R	+	1	2	2	COL5A1	136814385	136814385	0.811000	0.29063	0.958000	0.39756	0.800000	0.45204	0.973000	0.29422	2.057000	0.61298	0.563000	0.77884	CGG	0.675436		TCGA-F2-6879-01A-11D-2154-08	0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1		2	2	2	0		0	0	77		77	75	1	1.870000	-3.318794	1	0.670000	NM_000093			213	206		518	505	1		1	0		0	0	77	0		1.000000	1	0	0	0	1156	0	213	518
CXorf21	80231	broad.mit.edu	37	X	30577625	30577625	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:30577625A>C	ENST00000378962.3	-	3	1170	c.848T>G	c.(847-849)aTt>aGt	p.I283S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATTTCAGTAATTTCAGTTGA	0.383																																						ENST00000378962.3	0.080000	0	6.000000e-02	2.000000e-02	0.030000	0.042134	0.030000	0.040000																										0				20						c.(847-849)aTt>aGt		chromosome X open reading frame 21							78.0	68.0	71.0					X																	30577625		2202	4300	6502	SO:0001583	missense	80231	0	0					g.chrX:30577625A>C	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.848T>G	chrX.hg19:g.30577625A>C	ENSP00000368245:p.Ile283Ser							p.I283S	NM_025159.2	NP_079435.1	0	1	1		Q9HAI6	CX021_HUMAN		3	1170	-				Missense_Mutation	SNP	ENST00000378962.3	0	1	hg19	c.848T>G	CCDS14224.1	0	.	.	.	.	.	.	.	.	.	.	A	7.306	0.613922	0.14066	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.662303	0.11137	U	0.595712	T	0.35913	0.0948	N	0.12182	0.205	0.33979	D	0.647716	P	0.49783	0.928	P	0.49226	0.603	T	0.08046	-1.0741	9	0.02654	T	1	.	13.9975	0.64411	1.0:0.0:0.0:0.0	.	283	Q9HAI6	CX021_HUMAN	S	283	.	ENSP00000368245:I283S	I	-	2	0	0	CXorf21	30487546	30487546	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	8.322000	0.90000	1.880000	0.54463	0.417000	0.27973	ATT	0.670000		TCGA-F2-6879-01A-11D-2154-08	0.383	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	0	0	0		2	2	2	0		0	0	24		24	24	1	1.870000	-7.111466	1	0.670000	NM_025159			5	5		205	201	0		1	0		0	0	24	0		0.935095	1.262471e-02	0	0	0	6	0	5	205
AFF2	2334	broad.mit.edu	37	X	148037698	148037698	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:148037698G>A	ENST00000370460.2	+	11	2602	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q|AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	708					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGTCTCGGGAATTCATT	0.488																																						ENST00000370460.2	1.000000	8.800000e-01	9.800000e-01	9.100000e-01	0.940000	0.951150	0.940000	0.960000																										0				109						c.(2122-2124)cGg>cAg		AF4/FMR2 family, member 2							94.0	97.0	96.0					X																	148037698		2203	4300	6503	SO:0001583	missense	2334	0	0					g.chrX:148037698G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2123G>A	chrX.hg19:g.148037698G>A	ENSP00000359489:p.Arg708Gln						AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q|AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q	p.R708Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	0	1	1		P51816	AFF2_HUMAN		11	2602	+	Acute lymphoblastic leukemia(192;6.56e-05)		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	1	1	hg19	c.2123G>A	CCDS14684.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537272	0.85812	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.059861	0.64402	D	0.000016	D	0.82669	0.5087	M	0.79926	2.475	0.42293	D	0.992149	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.71414	0.973;0.954;0.954;0.954;0.954;0.973	T	0.83078	-0.0139	10	0.42905	T	0.14	.	18.7499	0.91810	0.0:0.0:1.0:0.0	.	349;673;675;669;698;708	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	708;675;675;349	ENSP00000359489:R708Q;ENSP00000359486:R675Q;ENSP00000345459:R675Q;ENSP00000286437:R349Q	ENSP00000286437:R349Q	R	+	2	0	0	AFF2	147845398	147845398	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.672000	0.68102	2.372000	0.80975	0.600000	0.82982	CGG	0.670000		TCGA-F2-6879-01A-11D-2154-08	0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1		2	2	2	0		0	0	37		37	37	1	1.870000	-20.000000	1	0.670000	NM_002025			258	252		143	140	1		1	0		0	0	37	0		1.000000	4.115634e-01	0	0	0	2	0	258	143
