#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
KBTBD4	55709	broad.mit.edu	37	11	47595092	47595094	+	In_Frame_Del	DEL	CGA	CGA	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:47595092_47595094delCGA	ENST00000526005.1	-	4	1098_1100	c.945_947delTCG	c.(943-948)cctcgg>ccg	p.R316del	RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	316										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GAGCCGGTCCCGAGGCAAAGGAG	0.571																																						ENST00000526005.1	1.000000	4.000000e-01	0.610000	4.600000e-01	0.530000	0.558403	0.530000	0.520000																										0				24						c.(943-948)cctcgg>ccg		kelch repeat and BTB (POZ) domain containing 4																																				SO:0001651	inframe_deletion	55709	0	0					g.chr11:47595092_47595094delCGA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.945_947delTCG	chr11.hg19:g.47595092_47595094delCGA	ENSP00000433340:p.Arg316del	0					RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del|KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del	p.R316del			1	2	3	2.034398	Q9NVX7	KBTB4_HUMAN		4	1098_1100	-			D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	In_Frame_Del	DEL	ENST00000526005.1	1	1	hg19	c.945_947delTCG	CCDS7940.1	0																																																																																								0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.571	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	1	0	1		2	2		0	0	0	0	60	0	60	59	1	2.080000	-2.734738	1	0.680000	NM_016506		0	53	60	0	250	253	0	0	1	1	0	0	0	60	0	0	1	9.589791e-01	0	6	0	21	0	53	250
KLF5	688	broad.mit.edu	37	13	73636195	73636195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:73636195delC	ENST00000377687.4	+	2	994	c.458delC	c.(457-459)tccfs	p.S153fs	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Del_p.S62fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	153					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTCTACAAATCCCAGAGACCG	0.532																																						ENST00000377687.4	0.770000	5.600000e-01	0.720000	6.100000e-01	0.660000	0.671050	0.660000	0.670000																										0				17						c.(457-459)tccfs		Kruppel-like factor 5 (intestinal)							155.0	131.0	139.0					13																	73636195		2203	4300	6503	SO:0001589	frameshift_variant	688	0	0					g.chr13:73636195delC	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.458delC	chr13.hg19:g.73636195delC	ENSP00000366915:p.Ser153fs	0					KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Del_p.S62fs	p.S153fs	NM_001730.3	NP_001721.2	0	0	0	1.894646	Q13887	KLF5_HUMAN		2	994	+		Prostate(6;0.00187)|Breast(118;0.0735)	L0R3U5|L0R4T9|Q9UHP8	Frame_Shift_Del	DEL	ENST00000377687.4	1	0	hg19	c.458delC	CCDS9448.1	0																																																																																								0.671053		TCGA-S4-A8RO-01A-12D-A377-08	0.532	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1	1	0	1		25	2		0	0	0	2	101	0	101	100	1	2.080000	-4.444923	1	0.680000			0	126	141	0	413	408	0	0	1	1	0	0	0	101	0	0	1	1	0	38	0	205	0	126	413
GPR125	166647	broad.mit.edu	37	4	22436937	22436938	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:22436937_22436938delTT	ENST00000334304.5	-	10	1708_1709	c.1439_1440delAA	c.(1438-1440)aaafs	p.K480fs	GPR125_ENST00000502482.1_Frame_Shift_Del_p.K480fs|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Frame_Shift_Del_p.K254fs	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	480					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAAGTACCTCTTTTGATTTTTC	0.337																																						ENST00000334304.5	0.760000	5.100000e-01	0.700000	5.600000e-01	0.620000	0.633807	0.620000	0.630000																										0				56						c.(1438-1440)aaafs		G protein-coupled receptor 125																																				SO:0001589	frameshift_variant	166647	0	0					g.chr4:22436937_22436938delTT	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1439_1440delAA	chr4.hg19:g.22436939_22436940delTT	ENSP00000334952:p.Lys480fs	0					GPR125_ENST00000502482.1_Frame_Shift_Del_p.K480fs|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Frame_Shift_Del_p.K254fs	p.K480fs	NM_145290.3	NP_660333.2	1	2	3	1.968126	Q8IWK6	GP125_HUMAN		10	1708_1709	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Frame_Shift_Del	DEL	ENST00000334304.5	1	0	hg19	c.1439_1440delAA	CCDS33964.1	0																																																																																								0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.337	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1		36	2		0	0	0	5	87	0	87	88	1	2.080000	-3.586915	1	0.680000			0	82	87	0	302	303	0	0	1	0	0	0	0	87	0	0	9.999993e-01	8.597445e-01	0	0	0	15	0	82	302
SORBS1	10580	broad.mit.edu	37	10	97096368	97096368	+	Silent	SNP	G	G	A	rs370839434		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97096368G>A	ENST00000361941.3	-	28	3575	c.3549C>T	c.(3547-3549)agC>agT	p.S1183S	SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371247.2_Silent_p.S1183S|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371239.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGAAAAGCGCTACCCAGGG	0.617																																						ENST00000361941.3	1.000000	9.100000e-01	1.000000	9.500000e-01	0.970000	0.978554	0.970000	0.990000																										0				42						c.(3547-3549)agC>agT		sorbin and SH3 domain containing 1		G	,,,,,,	0,4406		0,0,2203	80.0	84.0	82.0		3549,3126,,,,,	5.6	1.0	10		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	1183/1293,1042/1152,,,,,	97096368	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10580	0	0					g.chr10:97096368G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3549C>T	chr10.hg19:g.97096368G>A		1					SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371247.2_Silent_p.S1183S|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Silent_p.S1042S	p.S1183S	NM_001034954.1	NP_001030126	0	1	1	1.472099				28	3575	-		Colorectal(252;0.0429)		Silent	SNP	ENST00000361941.3	1	1	hg19	c.3549C>T	CCDS31255.1	1																																																																																								0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.617	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1	1	0	1	2	2	2	2	0	0	0	0	81	81	81	81	1	2.080000	-20.000000	1	0.680000			0	179	178	0	144	142	1		1			0	0	81	0	0	1	0	0	0	0	0	0	179	144
ANGPTL5	253935	broad.mit.edu	37	11	101773403	101773403	+	Silent	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:101773403T>C	ENST00000334289.3	-	6	1084	c.489A>G	c.(487-489)acA>acG	p.T163T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	163	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACTCGGTGTTTTGGTGA	0.353																																						ENST00000334289.3	1.000000	8.400000e-01	1.000000	9.100000e-01	0.990000	0.967906	0.990000	1.000000																										0				29						c.(487-489)acA>acG		angiopoietin-like 5							122.0	127.0	125.0					11																	101773403		2203	4299	6502	SO:0001819	synonymous_variant	253935	0	0					g.chr11:101773403T>C	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.489A>G	chr11.hg19:g.101773403T>C		0						p.T163T	NM_178127.4	NP_835228.2	1	2	3	2.033988	Q86XS5	ANGL5_HUMAN		6	1084	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	1	1	hg19	c.489A>G	CCDS8312.1	1																																																																																								0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.353	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	1	0	1	2	2	2	2	0	0	0	0	64	64	64	64	1	2.080000	-20.000000	1	0.680000	NM_178127		0	112	109	0	228	225	1		1			0	0	64	0	0	1	0	0	0	0	0	0	112	228
OR51F2	119694	broad.mit.edu	37	11	4843156	4843156	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4843156T>C	ENST00000322110.5	+	1	606	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGAGGTTGTCCTTCTGCAG	0.448																																						ENST00000322110.5	0.060000	1.000000e-02	0.050000	1.000000e-02	0.020000	0.035941	0.020000	0.030000																										0				33						c.(541-543)Tcc>Ccc		olfactory receptor, family 51, subfamily F, member 2							318.0	277.0	291.0					11																	4843156		2201	4298	6499	SO:0001583	missense	119694	0	0					g.chr11:4843156T>C	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.541T>C	chr11.hg19:g.4843156T>C	ENSP00000323952:p.Ser181Pro	1					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.S181P	NM_001004753.1	NP_001004753.1	0	1	1	1.316738	Q8NH61	O51F2_HUMAN		1	606	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	0	1	hg19	c.541T>C	CCDS31361.1	0	.	.	.	.	.	.	.	.	.	.	T	2.880	-0.232112	0.05983	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.66	2.17	0.27698	4.66	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.663319	0.12337	U	0.477833	T	0.00210	0.0006	L	0.35487	1.065	0.09310	N	1	D	0.69078	0.997	D	0.71656	0.974	T	0.32824	-0.9892	10	0.02654	T	1	.	5.3429	0.15994	0.4154:0.0:0.148:0.4366	.	181	Q8NH61	O51F2_HUMAN	P	181	ENSP00000323952:S181P	ENSP00000323952:S181P	S	+	1	0	0	OR51F2	4799732	4799732	0.000000	0.05858	0.977000	0.42913	0.614000	0.37383	-0.787000	0.04618	0.309000	0.22966	0.459000	0.35465	TCC	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.448	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	0	0	1	2	2	2	2	0	0	0	0	201	201	201	199	1	2.080000	-3.335725	1	0.680000	NM_001004753		0	9	9	0	528	527	0		1			0	0	201	0	0	9.942409e-01	0	0	0	0	0	0	9	528
OR51G1	79324	broad.mit.edu	37	11	4945382	4945382	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4945382T>A	ENST00000321961.2	-	1	255	c.188A>T	c.(187-189)tAt>tTt	p.Y63F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCAAGAAATAGTACATGGG	0.483																																						ENST00000321961.2	0.260000	6.000000e-02	0.200000	9.000000e-02	0.140000	0.152302	0.140000	0.140000																										0				25						c.(187-189)tAt>tTt		olfactory receptor, family 51, subfamily G, member 1							111.0	87.0	95.0					11																	4945382		2201	4298	6499	SO:0001583	missense	79324	0	0					g.chr11:4945382T>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.188A>T	chr11.hg19:g.4945382T>A	ENSP00000322546:p.Tyr63Phe	1					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.Y63F	NM_001005237.1	NP_001005237.1	0	1	1	1.316738	Q8NGK1	O51G1_HUMAN		1	255	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	1	1	hg19	c.188A>T	CCDS31366.1	0	.	.	.	.	.	.	.	.	.	.	T	14.38	2.517143	0.44763	.	.	ENSG00000176879	ENST00000321961	T	0.01685	4.69	4.2	4.2	0.49525	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003015	T	0.01592	0.0051	N	0.25060	0.705	0.27676	N	0.946609	B	0.15719	0.014	B	0.15484	0.013	T	0.37934	-0.9684	10	0.66056	D	0.02	.	6.9793	0.24694	0.3172:0.0:0.0:0.6828	.	63	Q8NGK1	O51G1_HUMAN	F	63	ENSP00000322546:Y63F	ENSP00000322546:Y63F	Y	-	2	0	0	OR51G1	4901958	4901958	0.901000	0.30685	1.000000	0.80357	0.963000	0.63663	1.508000	0.35769	1.760000	0.52011	0.455000	0.32223	TAT	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.483	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	1	0	1	2	2	2	2	0	0	0	0	39	39	39	37	1	2.080000	-11.939750	1	0.680000	NM_001005237		0	7	7	0	92	90	0		1			0	0	39	0	0	9.804965e-01	0	0	0	0	0	0	7	92
OR10A5	144124	broad.mit.edu	37	11	6867677	6867677	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:6867677C>G	ENST00000299454.4	+	1	795	c.764C>G	c.(763-765)tCt>tGt	p.S255C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	255					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTATATATCTTCTAGCCTC	0.433																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4	0.060000	0	0.050000	1.000000e-02	0.020000	0.035623	0.020000	0.030000																										0				21						c.(763-765)tCt>tGt		olfactory receptor, family 10, subfamily A, member 5							193.0	188.0	189.0					11																	6867677		2201	4296	6497	SO:0001583	missense	144124	0	0					g.chr11:6867677C>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.764C>G	chr11.hg19:g.6867677C>G	ENSP00000299454:p.Ser255Cys	1					OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C	p.S255C			0	1	1	1.302272	Q9H207	O10A5_HUMAN		1	795	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	0	1	hg19	c.764C>G	CCDS7773.1	0	.	.	.	.	.	.	.	.	.	.	.	7.000	0.554679	0.13436	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00183	8.6;8.6	3.59	3.59	0.41128	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00300	0.0009	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.70016	0.967	T	0.68834	-0.5304	10	0.41790	T	0.15	.	13.509	0.61499	0.0:1.0:0.0:0.0	.	255	Q9H207	O10A5_HUMAN	C	255;259	ENSP00000299454:S255C;ENSP00000369159:S259C	ENSP00000299454:S255C	S	+	2	0	0	OR10A5	6824253	6824253	0.000000	0.05858	0.221000	0.23827	0.007000	0.05969	0.600000	0.24104	2.269000	0.75478	0.591000	0.81541	TCT	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.433	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	0	0	1	2	10	2	2	1	1	1	1	195	195	195	194	1	2.080000	-2.713086	1	0.680000	NM_178168		0	7	7	0	426	419	0		0			1	0	195	0	0	2.990150e-01	0	0	0	0	0	0	7	426
RPS6KB2	6199	broad.mit.edu	37	11	67200423	67200423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:67200423G>A	ENST00000312629.5	+	8	662	c.617G>A	c.(616-618)gGc>gAc	p.G206D	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_3'UTR|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTTCCTCAGGCCACATCAAA	0.612																																						ENST00000312629.5	1.000000	8.400000e-01	1.000000	9.500000e-01	0.990000	0.982603	0.990000	1.000000																										0				25						c.(616-618)gGc>gAc		ribosomal protein S6 kinase, 70kDa, polypeptide 2							41.0	45.0	43.0					11																	67200423		2050	4199	6249	SO:0001630	splice_region_variant	6199	0	0					g.chr11:67200423G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.617-1G>A	chr11.hg19:g.67200423G>A		1					RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR	p.G206D	NM_003952.2	NP_003943.2	1	3	4	2.761429	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)	8	662	+			B2RMZ9|B4DML8|O94809|Q9UEC1	Splice_Site	SNP	ENST00000312629.5	1	0	hg19	c.617G>A	CCDS41677.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909408|2.909408	0.52439|0.52439	.|.	.|.	ENSG00000175634|ENSG00000175634	ENST00000524814|ENST00000312629	.|T	.|0.31510	.|1.49	4.76|4.76	4.76|4.76	0.60689|0.60689	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58308|0.58308	0.2113|0.2113	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.61778|0.61778	-0.6993|-0.6993	5|9	.|.	.|.	.|.	.|.	16.6904|16.6904	0.85320|0.85320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|206;206	.|Q9BRS0;Q9UBS0	.|.;KS6B2_HUMAN	T|D	157|206	.|ENSP00000308413:G206D	.|.	A|G	+|+	1|2	0|0	0|0	RPS6KB2|RPS6KB2	66956999|66956999	66956999|66956999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	9.087000|9.087000	0.94110|0.94110	2.461000|2.461000	0.83175|0.83175	0.561000|0.561000	0.74099|0.74099	GCC|GGC	0.768250		TCGA-S4-A8RO-01A-12D-A377-08	0.612	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	0	0	1	2	23	18	2	1	1	1	1	29	29	29	29	1	2.080000	-20.000000	1	0.680000	NM_003952	Missense_Mutation	0	61	61	0	175	173	1		1	1		1	0	29	0	0	9.999987e-01	9.999898e-01	0	20	0	158	0	61	175
NOX4	50507	broad.mit.edu	37	11	89088203	89088203	+	Nonsense_Mutation	SNP	G	G	A	rs374112961		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:89088203G>A	ENST00000263317.4	-	13	1382	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000535633.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	382	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.R382*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAAATCTCGAAATCGTTCT	0.328																																						ENST00000263317.4	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R382*(1)	lung(1)	44						c.(1144-1146)Cga>Tga		NADPH oxidase 4		G	stop/ARG,stop/ARG,stop/ARG	0,4402		0,0,2201	50.0	49.0	49.0		1144,1072,1144	5.3	1.0	11		49	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained,stop-gained	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	382/539,358/555,382/579	89088203	1,12999	2201	4299	6500	SO:0001587	stop_gained	50507	1	121326	38				g.chr11:89088203G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1144C>T	chr11.hg19:g.89088203G>A	ENSP00000263317:p.Arg382*	1					NOX4_ENST00000535633.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*	p.R382*			1	3	4	3.157427	Q9NPH5	NOX4_HUMAN		13	1382	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	ENST00000263317.4	0	1	hg19	c.1144C>T	CCDS8285.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.124446	0.94429	0.0	1.16E-4	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	.	.	.	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.325791	0.27060	N	0.021133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9276	14.4891	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	358;358;358;382;382;358;358;358;216;357;403;75;75	.	.	R	-	1	2	2	NOX4	88727851	88727851	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.228000	0.65310	2.479000	0.83701	0.563000	0.77884	CGA	0.803150		TCGA-S4-A8RO-01A-12D-A377-08	0.328	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	28	1	2.080000	-20.000000	1	0.680000	NM_016931		0	126	117	0	85	78	1		1	0		0	0	27	0	0	1	9.952362e-01	0	0	0	9	0	126	85
PKNOX2	63876	broad.mit.edu	37	11	125299995	125299995	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:125299995G>A	ENST00000298282.9	+	12	1421	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	384					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGCTGCGGGGGTGCTGCAGCA	0.622																																						ENST00000298282.9	0.100000	0	0.070000	2.000000e-02	0.040000	0.052475	0.040000	0.040000																										0				29						c.(1150-1152)Gtg>Atg		PBX/knotted 1 homeobox 2							52.0	59.0	57.0					11																	125299995		1948	4133	6081	SO:0001583	missense	63876	0	0					g.chr11:125299995G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1150G>A	chr11.hg19:g.125299995G>A	ENSP00000298282:p.Val384Met	1					PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M|PKNOX2_ENST00000530517.1_3'UTR	p.V384M	NM_022062.2	NP_071345.2	0	2	2	1.994209	Q96KN3	PKNX2_HUMAN		12	1421	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	0	1	hg19	c.1150G>A	CCDS41730.1	0	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014071	0.75161	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85258	-1.95;-1.95;-1.96;-1.93	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.90328	0.6974	L	0.53249	1.67	0.80722	D	1	D;D;D	0.71674	0.998;0.989;0.978	D;P;P	0.70487	0.969;0.795;0.496	D	0.90201	0.4257	10	0.46703	T	0.11	-13.6476	18.252	0.90006	0.0:0.0:1.0:0.0	.	320;355;384	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	M	355;355;384;320	ENSP00000434732:V355M;ENSP00000433971:V355M;ENSP00000298282:V384M;ENSP00000441470:V320M	ENSP00000298282:V384M	V	+	1	0	0	PKNOX2	124805205	124805205	1.000000	0.71417	0.995000	0.50966	0.606000	0.37113	9.809000	0.99208	2.399000	0.81585	0.462000	0.41574	GTG	0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.622	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	0	0	1	2	2	2	2	0	0	0	0	52	52	52	50	1	2.080000	-5.508372	1	0.680000			0	5	5	0	328	320	0		1	0		0	0	52	0	0	9.339264e-01	3.731343e-04	0	0	0	2	0	5	328
KCNA5	3741	broad.mit.edu	37	12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:5153999G>A	ENST00000252321.3	+	1	915	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CCCCTGCCCCGCAACGAGTTC	0.607																																						ENST00000252321.3	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	0.999932	0.990000	1.000000																										0				52						c.(685-687)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 5	Dalfampridine(DB06637)						68.0	77.0	74.0					12																	5153999		2203	4300	6503	SO:0001583	missense	3741	1	121412	36				g.chr12:5153999G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.686G>A	chr12.hg19:g.5153999G>A	ENSP00000252321:p.Arg229His	0						p.R229H	NM_002234.3	NP_002225.2	1	2	3	2.038143	P22460	KCNA5_HUMAN		1	915	+			Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	1	1	hg19	c.686G>A	CCDS8536.1	1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016133	0.35606	.	.	ENSG00000130037	ENST00000252321	T	0.65549	-0.16	4.77	4.77	0.60923	4.77	4.77	0.60923	.	1.183500	0.06286	U	0.698225	T	0.56906	0.2017	L	0.35644	1.08	0.29339	N	0.866187	B	0.13145	0.007	B	0.12837	0.008	T	0.46938	-0.9155	10	0.52906	T	0.07	.	12.4671	0.55764	0.0832:0.0:0.9168:0.0	.	229	P22460	KCNA5_HUMAN	H	229	ENSP00000252321:R229H	ENSP00000252321:R229H	R	+	2	0	0	KCNA5	5024260	5024260	0.000000	0.05858	0.996000	0.52242	0.991000	0.79684	-0.403000	0.07214	2.478000	0.83669	0.561000	0.74099	CGC	0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	1	0	1	2	2	2	2	0	0	0	0	76	76	76	76	1	2.080000	-20.000000	1	0.680000	NM_002234		0	136	136	0	201	200	1		1	0		0	0	76	0	0	1	0	0	0	0	1	0	136	201
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	7.500000e-01	1.000000	8.300000e-01	0.910000	0.916249	0.910000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.002208	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>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.684294		TCGA-S4-A8RO-01A-12D-A377-08	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	2	0	0	0	0	51	51	51	51	1	2.080000	-20.000000	1	0.680000	NM_033360		3068	79	78	4964	177	173	1	1	1	1	1	0	0	51	696	1	1	9.959214e-01	1	6	118	16	342	79	177
SYT10	341359	broad.mit.edu	37	12	33538128	33538128	+	Silent	SNP	C	C	T	rs369118657		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:33538128C>T	ENST00000228567.3	-	4	1472	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	SYT10_ENST00000535526.1_Silent_p.A211A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	392	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TAATATCCATCGCCTTCAGAT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		13748	0.001		0.0	False		,,,				2504	0.0					ENST00000228567.3	1.000000	7.200000e-01	0.940000	7.900000e-01	0.860000	0.866062	0.860000	0.860000																										0				42						c.(1174-1176)gcG>gcA		synaptotagmin X							162.0	136.0	145.0					12																	33538128		2203	4300	6503	SO:0001819	synonymous_variant	341359	1	121412	38				g.chr12:33538128C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1176G>A	chr12.hg19:g.33538128C>T		0					SYT10_ENST00000535526.1_Silent_p.A211A	p.A392A	NM_198992.3	NP_945343.1	1	2	3	1.982775	Q6XYQ8	SYT10_HUMAN		4	1472	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		Q495U2	Silent	SNP	ENST00000228567.3	1	1	hg19	c.1176G>A	CCDS8732.1	1																																																																																								0.682161		TCGA-S4-A8RO-01A-12D-A377-08	0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	1	0	1	2	2	2	2	0	0	0	0	94	94	94	93	1	2.080000	-8.396578	1	0.680000	NM_198992		0	114	113	0	277	273	1		1			0	0	94	0	0	1	0	0	0	0	0	0	114	277
PDZRN4	29951	broad.mit.edu	37	12	41966704	41966704	+	Missense_Mutation	SNP	G	G	A	rs200771912	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:41966704G>A	ENST00000402685.2	+	10	2131	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R448Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	708							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGAGGATTCCGGAATTATAAC	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		22541	0.001		0.0	False		,,,				2504	0.001					ENST00000402685.2	0.960000	6.200000e-01	0.860000	6.900000e-01	0.770000	0.779414	0.770000	0.770000																										0				77						c.(2122-2124)cGg>cAg		PDZ domain containing ring finger 4							98.0	100.0	99.0					12																	41966704		2203	4300	6503	SO:0001583	missense	29951	3	121412	38				g.chr12:41966704G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2123G>A	chr12.hg19:g.41966704G>A	ENSP00000384197:p.Arg708Gln	0					PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R448Q	p.R708Q	NM_001164595.1	NP_001158067.1	1	2	3	1.982775	Q6ZMN7	PZRN4_HUMAN		10	2131	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	1	1	hg19	c.2123G>A	CCDS53777.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.61	1.398179	0.25205	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72505	-0.66;3.83;3.83	4.32	3.42	0.39159	4.32	3.42	0.39159	.	0.094359	0.43416	D	0.000561	T	0.65565	0.2703	M	0.76838	2.35	0.39920	D	0.974143	B;B;B	0.31503	0.114;0.326;0.043	B;B;B	0.24269	0.003;0.052;0.014	T	0.64892	-0.6300	10	0.34782	T	0.22	-7.5442	9.2356	0.37464	0.0828:0.1469:0.7702:0.0	.	708;448;450	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	708;450;448	ENSP00000384197:R708Q;ENSP00000439990:R450Q;ENSP00000298919:R448Q	ENSP00000298919:R448Q	R	+	2	0	0	PDZRN4	40252971	40252971	1.000000	0.71417	0.981000	0.43875	0.762000	0.43233	2.333000	0.43912	1.124000	0.41980	0.650000	0.86243	CGG	0.682161		TCGA-S4-A8RO-01A-12D-A377-08	0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	1	0	1	2	2	2	2	0	0	0	0	73	73	73	72	1	2.080000	-5.095352	1	0.680000	NM_013377		0	70	69	0	198	196	1		1			0	0	73	0	0	1	0	0	0	0	0	0	70	198
KRT1	3848	broad.mit.edu	37	12	53069133	53069133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:53069133G>A	ENST00000252244.3	-	9	1837	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	593	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.G593G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cgccgccgccgcctccagagc	0.721																																						ENST00000252244.3	1.000000	8.800000e-01	1.000000	9.900000e-01	0.990000	0.990479	0.990000	1.000000																										1	Substitution - coding silent(1)	p.G593G(1)	prostate(1)	39						c.(1777-1779)ggC>ggT		keratin 1																																				SO:0001819	synonymous_variant	3848	1	118658	30				g.chr12:53069133G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1779C>T	chr12.hg19:g.53069133G>A		0						p.G593G	NM_006121.3	NP_006112.3	1	2	3	1.982775	P04264	K2C1_HUMAN		9	1837	-			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	1	1	hg19	c.1779C>T	CCDS8836.1	1																																																																																								0.682161		TCGA-S4-A8RO-01A-12D-A377-08	0.721	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	1	0	1	2	2	2	2	0	0	0	0	38	38	38	33	1	2.080000	-9.192583	1	0.680000	NM_006121		0	56	52	0	93	85	0		1			0	0	38	0	0	1	0	0	0	0	0	0	56	93
ATP2B1	490	broad.mit.edu	37	12	90036041	90036041	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:90036041T>A	ENST00000428670.3	-	3	756	c.300A>T	c.(298-300)caA>caT	p.Q100H	ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	100					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCCATACTAATTGAAGAAAGG	0.343																																						ENST00000428670.3	1.000000	9.600000e-01	1.000000	9.900000e-01	0.990000	0.997460	0.990000	1.000000																										0				45						c.(298-300)caA>caT		ATPase, Ca++ transporting, plasma membrane 1							198.0	232.0	221.0					12																	90036041		2203	4300	6503	SO:0001583	missense	490	0	0					g.chr12:90036041T>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.300A>T	chr12.hg19:g.90036041T>A	ENSP00000392043:p.Gln100His	0					ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H	p.Q100H			1	2	3	1.982775	P20020	AT2B1_HUMAN		3	756	-			Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	1	1	hg19	c.300A>T	CCDS9035.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237947	0.79800	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.76	-5.69	0.02428	5.76	-5.69	0.02428	.	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.79805	2.47	0.53005	D	0.99996	D;P	0.63880	0.993;0.5	P;P	0.60682	0.878;0.55	D	0.84356	0.0535	9	.	.	.	-20.2557	15.3162	0.74081	0.0:0.6036:0.0:0.3964	.	100;100	P20020-3;P20020-2	.;.	H	100	ENSP00000261173:Q100H;ENSP00000343599:Q100H;ENSP00000352054:Q100H;ENSP00000392043:Q100H	.	Q	-	3	2	2	ATP2B1	88560172	88560172	0.015000	0.18098	0.906000	0.35671	0.986000	0.74619	-0.835000	0.04386	-0.979000	0.03529	0.379000	0.24179	CAA	0.682161		TCGA-S4-A8RO-01A-12D-A377-08	0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	1	2	2	2	2	0	0	0	0	322	322	322	322	1	2.080000	-20.000000	1	0.680000	NM_001682		0	449	443	0	823	816	1		1	1		0	0	322	0	0	1	9.411745e-01	0	2	0	9	0	449	823
DNAH10	196385	broad.mit.edu	37	12	124317833	124317833	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:124317833C>A	ENST00000409039.3	+	26	4389	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1455	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTGTGGGGCCTTTTCTGCAA	0.433																																						ENST00000409039.3	1.000000	5.800000e-01	0.950000	6.900000e-01	0.810000	0.820021	0.810000	1.000000																										0				52						c.(4363-4365)cCt>cAt		dynein, axonemal, heavy chain 10							65.0	63.0	63.0					12																	124317833		1875	4106	5981	SO:0001583	missense	196385	0	0					g.chr12:124317833C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4364C>A	chr12.hg19:g.124317833C>A	ENSP00000386770:p.Pro1455His	0						p.P1455H	NM_207437.3	NP_997320.2	1	2	3	1.982775	Q8IVF4	DYH10_HUMAN		26	4389	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	1	1	hg19	c.4364C>A	CCDS9255.2	0	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980145	0.92982	.	.	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.83	5.83	0.93111	5.83	5.83	0.93111	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.80742	0.4681	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78600	-0.2141	10	0.40728	T	0.16	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1455	Q8IVF4	DYH10_HUMAN	H	1455	ENSP00000386770:P1455H	ENSP00000386770:P1455H	P	+	2	0	0	DNAH10	122883786	122883786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	CCT	0.682161		TCGA-S4-A8RO-01A-12D-A377-08	0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	2	2	2	2	0	0	0	0	23	23	23	22	1	2.080000	-20.000000	1	0.680000			0	30	30	0	79	78	1		1	0		0	0	23	0	0	1	0	0	0	0	1	0	30	79
TUBA3C	7278	broad.mit.edu	37	13	19751734	19751734	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:19751734G>A	ENST00000400113.3	-	4	493	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	130					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGCAGTCCCGTGCACAGATC	0.582																																						ENST00000400113.3	1.000000	8.400000e-01	1.000000	9.400000e-01	0.990000	0.980914	0.990000	1.000000																										0				72						c.(388-390)aCg>aTg		tubulin, alpha 3c							50.0	48.0	48.0					13																	19751734		2203	4300	6503	SO:0001583	missense	7278	0	0					g.chr13:19751734G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.389C>T	chr13.hg19:g.19751734G>A	ENSP00000382982:p.Thr130Met	0						p.T130M	NM_006001.2	NP_005992.1	0	0	0	1.894646	Q13748	TBA3C_HUMAN		4	493	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	1	1	hg19	c.389C>T	CCDS9284.1	1	.	.	.	.	.	.	.	.	.	.	g	9.895	1.205228	0.22205	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68624	-0.34	1.19	1.19	0.21007	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000184	T	0.70439	0.3224	.	.	.	0.40500	D	0.980633	.	.	.	.	.	.	T	0.72763	-0.4195	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	M	130	ENSP00000382982:T130M	ENSP00000354037:T130M	T	-	2	0	0	TUBA3C	18649734	18649734	1.000000	0.71417	0.920000	0.36463	0.408000	0.30992	4.910000	0.63321	0.966000	0.38159	0.162000	0.16502	ACG	0.671053		TCGA-S4-A8RO-01A-12D-A377-08	0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	1	0	1	2	2	2	2	0	0	0	0	47	47	47	48	1	2.080000	-20.000000	1	0.680000	NM_006001		0	61	58	0	104	102	1		1			0	0	47	0	0	1	0	0	0	0	0	0	61	104
PABPC3	5042	broad.mit.edu	37	13	25671262	25671262	+	Missense_Mutation	SNP	G	G	A	rs554723791		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:25671262G>A	ENST00000281589.3	+	1	963	c.926G>A	c.(925-927)cGt>cAt	p.R309H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	309	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGATGAACGTCTCCGGAAA	0.408													g|||	1	0.000199681	0.0	0.0	5008	,	,		22579	0.0		0.0	False		,,,				2504	0.001					ENST00000281589.3	1.000000	8.700000e-01	0.990000	9.000000e-01	0.940000	0.952174	0.940000	1.000000																										0				47						c.(925-927)cGt>cAt		poly(A) binding protein, cytoplasmic 3							219.0	217.0	218.0					13																	25671262		2203	4300	6503	SO:0001583	missense	5042	6	121412	43				g.chr13:25671262G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.926G>A	chr13.hg19:g.25671262G>A	ENSP00000281589:p.Arg309His	0						p.R309H	NM_030979.2	NP_112241.2	0	0	0	1.894646	Q9H361	PABP3_HUMAN		1	963	+		Lung SC(185;0.0225)|Breast(139;0.0602)	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	1	1	hg19	c.926G>A	CCDS9311.1	1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956849	0.18507	.	.	ENSG00000151846	ENST00000281589	T	0.15952	2.38	0.875	-0.438	0.12268	0.875	-0.438	0.12268	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.135449	0.32473	N	0.006058	T	0.07007	0.0178	N	0.10685	0.025	0.50632	D	0.999884	P	0.43094	0.799	B	0.38985	0.287	T	0.30880	-0.9963	10	0.62326	D	0.03	.	6.1527	0.20320	0.0:0.3209:0.679:0.0	.	309	Q9H361	PABP3_HUMAN	H	309	ENSP00000281589:R309H	ENSP00000281589:R309H	R	+	2	0	0	PABPC3	24569262	24569262	1.000000	0.71417	0.851000	0.33527	0.226000	0.24999	3.068000	0.50018	-0.161000	0.10983	0.313000	0.20887	CGT	0.671053		TCGA-S4-A8RO-01A-12D-A377-08	0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	0	2	2	2	2	0	0	0	0	310	310	310	309	1	2.080000	-20.000000	1	0.680000	NM_030979		0	378	376	0	755	733	1		1	0		0	0	310	0	0	1	0	0	0	0	1	0	378	755
ACIN1	22985	broad.mit.edu	37	14	23531399	23531399	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:23531399G>A	ENST00000262710.1	-	16	3578	c.3251C>T	c.(3250-3252)gCt>gTt	p.A1084V	ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1084					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATAGTCAGCACAAAGGAA	0.537																																						ENST00000262710.1	0.080000	0	0.060000	1.000000e-02	0.030000	0.037971	0.030000	0.030000																										0				37						c.(3250-3252)gCt>gTt		apoptotic chromatin condensation inducer 1							108.0	112.0	111.0					14																	23531399		2203	4300	6503	SO:0001583	missense	22985	0	0					g.chr14:23531399G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3251C>T	chr14.hg19:g.23531399G>A	ENSP00000262710:p.Ala1084Val	1					ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V	p.A1084V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	1	2	3	2.617345	Q9UKV3	ACINU_HUMAN		16	3578	-	all_cancers(95;1.36e-05)		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	0	1	hg19	c.3251C>T	CCDS9587.1	0	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177752	0.21787	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.19	5.19	0.71726	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.38720	N	0.001589	T	0.04407	0.0121	N	0.00289	-1.7	0.44388	D	0.997291	B;B;B;B;B	0.27013	0.137;0.166;0.084;0.111;0.054	B;B;B;B;B	0.35859	0.135;0.212;0.064;0.016;0.011	T	0.41610	-0.9499	10	0.02654	T	1	-9.2231	11.4006	0.49868	0.0848:0.0:0.9152:0.0	.	1071;1084;1044;357;326	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	V	325;357;326;1084;1044;326;1071	ENSP00000451138:A325V;ENSP00000345541:A357V;ENSP00000350073:A326V;ENSP00000262710:A1084V;ENSP00000405677:A1044V;ENSP00000380502:A326V;ENSP00000451328:A1071V	ENSP00000262710:A1084V	A	-	2	0	0	ACIN1	22601239	22601239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.835000	0.62781	2.578000	0.87016	0.563000	0.77884	GCT	0.760587		TCGA-S4-A8RO-01A-12D-A377-08	0.537	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	0	0	1	2	2	2	2	0	0	0	0	90	90	90	89	1	2.080000	-2.446123	0	0.680000	NM_014977		0	5	5	0	601	599	0		1	0		0	0	90	0	0	9.372288e-01	6.780961e-01	0	0	0	264	0	5	601
ZFYVE26	23503	broad.mit.edu	37	14	68238816	68238816	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68238816G>A	ENST00000347230.4	-	28	5570	c.5432C>T	c.(5431-5433)cCg>cTg	p.P1811L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1811					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCTCATCCGGTACCCACTG	0.562																																						ENST00000347230.4	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				94						c.(5431-5433)cCg>cTg		zinc finger, FYVE domain containing 26							42.0	39.0	40.0					14																	68238816		2203	4300	6503	SO:0001583	missense	23503	0	0					g.chr14:68238816G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5432C>T	chr14.hg19:g.68238816G>A	ENSP00000251119:p.Pro1811Leu	1					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	p.P1811L	NM_015346.3	NP_056161.2	1	2	3	2.577519	Q68DK2	ZFY26_HUMAN		28	5570	-			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	0	1	hg19	c.5432C>T	CCDS9788.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269444	0.80469	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.49720	0.77;0.77	5.76	5.76	0.90799	5.76	5.76	0.90799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.81780	-0.0776	10	0.87932	D	0	-14.759	19.9574	0.97228	0.0:0.0:1.0:0.0	.	1811;1811	G3V2D8;Q68DK2	.;ZFY26_HUMAN	L	1811;1790;1811	ENSP00000251119:P1811L;ENSP00000450603:P1811L	ENSP00000251119:P1811L	P	-	2	0	0	ZFYVE26	67308569	67308569	1.000000	0.71417	0.432000	0.26747	0.625000	0.37756	7.804000	0.85993	2.715000	0.92844	0.561000	0.74099	CCG	0.757502		TCGA-S4-A8RO-01A-12D-A377-08	0.562	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	1	2	2	2	2	0	0	0	0	14	14	14	14	1	2.080000	-20.000000	1	0.680000	NM_015346		0	50	49	0	64	64	1		1	1		0	0	14	0	0	1	9.680347e-01	0	6	0	4	0	50	64
GALC	2581	broad.mit.edu	37	14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T	rs200378205	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H|GALC_ENST00000393568.4_Missense_Mutation_p.R508H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). {ECO:0000269|PubMed:10234611}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		15418	0.002		0.0	False		,,,				2504	0.0					ENST00000261304.2	1.000000	8.500000e-01	1.000000	9.300000e-01	0.990000	0.975393	0.990000	1.000000																										0				21	GRCh37	CM990620	GALC	M		c.(1591-1593)cGc>cAc		galactosylceramidase							123.0	119.0	120.0					14																	88411975		1885	4098	5983	SO:0001583	missense	2581	7	120816	43				g.chr14:88411975C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1592G>A	chr14.hg19:g.88411975C>T	ENSP00000261304:p.Arg531His	1					GALC_ENST00000544807.2_Missense_Mutation_p.R475H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000393568.4_Missense_Mutation_p.R508H	p.R531H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	1	2	3	2.596884	P54803	GALC_HUMAN		14	1698	-			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	1	1	hg19	c.1592G>A	CCDS9878.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.14	3.314547	0.60524	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.5	4.61	0.57282	5.5	4.61	0.57282	.	0.048176	0.85682	D	0.000000	D	0.97745	0.9260	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	D	0.98792	1.0736	10	0.87932	D	0	-13.106	15.9398	0.79745	0.1363:0.8637:0.0:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	H	531;475;505;320;508	ENSP00000261304:R531H;ENSP00000437513:R475H;ENSP00000377199:R505H;ENSP00000377198:R508H	ENSP00000261304:R531H	R	-	2	0	0	GALC	87481728	87481728	1.000000	0.71417	0.840000	0.33206	0.012000	0.07955	7.637000	0.83313	1.441000	0.47550	0.585000	0.79938	CGC	0.761194		TCGA-S4-A8RO-01A-12D-A377-08	0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2	1	0	1	2	2	2	2	0	0	0	0	76	76	76	76	1	2.080000	-6.177353	1	0.680000			0	117	116	0	338	333	1		1	1		0	0	76	0	0	1	9.999999e-01	0	17	0	53	0	117	338
PPP2R5C	5527	broad.mit.edu	37	14	102360847	102360847	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:102360847G>A	ENST00000334743.5	+	8	850	c.802G>A	c.(802-804)Gca>Aca	p.A268T	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.A299T|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	268					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTTTAGCTGGCATACTGTGT	0.403																																						ENST00000334743.5	0.120000	1.000000e-02	0.090000	3.000000e-02	0.050000	0.066869	0.050000	0.060000																										0				20						c.(802-804)Gca>Aca		protein phosphatase 2, regulatory subunit B', gamma							177.0	134.0	149.0					14																	102360847		2203	4300	6503	SO:0001583	missense	5527	0	0					g.chr14:102360847G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.802G>A	chr14.hg19:g.102360847G>A	ENSP00000333905:p.Ala268Thr	1					PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.A299T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T	p.A268T	NM_002719.3	NP_002710.2	1	2	3	2.596884	Q13362	2A5G_HUMAN		8	850	+			B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	0	1	hg19	c.802G>A	CCDS9964.1	0	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593023	0.86953	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.49720	0.78;0.77;0.77;0.83;0.78	5.63	5.63	0.86233	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	L	0.59436	1.845	0.80722	D	1	P;B;P;P;B;P	0.45531	0.831;0.083;0.765;0.86;0.148;0.567	B;B;B;P;B;B	0.48063	0.429;0.122;0.252;0.565;0.074;0.443	T	0.57487	-0.7803	10	0.54805	T	0.06	-6.5997	19.6959	0.96026	0.0:0.0:1.0:0.0	.	299;166;268;268;268;323	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	T	299;323;297;268;166;268;268;268;64	ENSP00000412324:A299T;ENSP00000329009:A323T;ENSP00000450931:A297T;ENSP00000262239:A268T;ENSP00000333905:A268T	ENSP00000329009:A323T	A	+	1	0	0	PPP2R5C	101430600	101430600	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	9.694000	0.98686	2.659000	0.90383	0.650000	0.86243	GCA	0.761194		TCGA-S4-A8RO-01A-12D-A377-08	0.403	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	0	0	1	2	2	2	2	0	0	0	0	64	64	64	62	1	2.080000	-2.802890	1	0.680000	NM_002719		0	6	6	0	403	396	0		1	0		0	0	64	0	0	9.633321e-01	5.924434e-01	0	0	0	125	0	6	403
IFT140	9742	broad.mit.edu	37	16	1612009	1612009	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:1612009G>A	ENST00000426508.2	-	18	2539	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	726					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TAGTAATAAGGCACTTCCATC	0.557																																						ENST00000426508.2	1.000000	8.300000e-01	0.990000	8.900000e-01	0.950000	0.946414	0.950000	0.990000																										0				53						c.(2176-2178)Cct>Tct		intraflagellar transport 140							89.0	82.0	84.0					16																	1612009		2199	4300	6499	SO:0001583	missense	9742	0	0					g.chr16:1612009G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2176C>T	chr16.hg19:g.1612009G>A	ENSP00000406012:p.Pro726Ser	1					IFT140_ENST00000439987.2_5'UTR	p.P726S	NM_014714.3	NP_055529.2	0	1	1	1.413717	Q96RY7	IF140_HUMAN		18	2539	-		Hepatocellular(780;0.219)	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	1	1	hg19	c.2176C>T	CCDS10439.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702254	0.68501	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.68025	-0.3	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86852	0.2024	10	0.87932	D	0	.	18.9059	0.92460	0.0:0.0:1.0:0.0	.	726;451	Q96RY7;B4DR58	IF140_HUMAN;.	S	726	ENSP00000406012:P726S	ENSP00000380562:P726S	P	-	1	0	0	IFT140	1552010	1552010	1.000000	0.71417	0.797000	0.32132	0.084000	0.17831	9.225000	0.95219	2.535000	0.85469	0.563000	0.77884	CCT	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.557	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	1	0	1	2	2	2	2	0	0	0	0	52	52	52	50	1	2.080000	-20.000000	1	0.680000	NM_014714		0	93	92	0	86	85	1		1	1		0	0	52	0	0	1	9.833467e-01	0	6	0	3	0	93	86
NUDT21	11051	broad.mit.edu	37	16	56468701	56468701	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:56468701T>C	ENST00000300291.5	-	5	684	c.512A>G	c.(511-513)cAt>cGt	p.H171R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	171	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAACTTCTTATGTTCCTTAGG	0.303																																						ENST00000300291.5	1.000000	9.200000e-01	1.000000	9.700000e-01	0.990000	0.991122	0.990000	1.000000																										0				7						c.(511-513)cAt>cGt		nudix (nucleoside diphosphate linked moiety X)-type motif 21							106.0	111.0	109.0					16																	56468701		2197	4293	6490	SO:0001583	missense	11051	0	0					g.chr16:56468701T>C	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.512A>G	chr16.hg19:g.56468701T>C	ENSP00000300291:p.His171Arg	0						p.H171R	NM_007006.2	NP_008937.1	1	2	3	2.034749	O43809	CPSF5_HUMAN		5	684	-			Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	1	1	hg19	c.512A>G	CCDS10760.1	1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563365	0.45694	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.34	5.34	0.76211	5.34	5.34	0.76211	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.42581	1.335	0.80722	D	1	D	0.63046	0.992	P	0.57152	0.814	T	0.58578	-0.7612	9	0.23302	T	0.38	.	15.602	0.76631	0.0:0.0:0.0:1.0	.	171	O43809	CPSF5_HUMAN	R	171	.	ENSP00000300291:H171R	H	-	2	0	0	NUDT21	55026202	55026202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.582000	0.82546	2.145000	0.66743	0.477000	0.44152	CAT	0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.303	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	1	0	1	2	2	2	2	0	0	0	0	177	177	177	176	1	2.080000	-20.000000	1	0.680000	NM_007006		0	236	232	0	453	441	1		1	1		0	0	177	0	0	1	1	0	34	0	83	0	236	453
NRN1L	123904	broad.mit.edu	37	16	67920029	67920029	+	Missense_Mutation	SNP	G	G	A	rs373963412		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:67920029G>A	ENST00000339176.3	+	3	464	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	122					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GTGCATGTTCGGGAGCGCGGC	0.667																																						ENST00000339176.3	1.000000	8.100000e-01	1.000000	9.600000e-01	0.990000	0.981270	0.990000	1.000000																										0				7						c.(364-366)cGg>cAg		neuritin 1-like		G	GLN/ARG	0,4394		0,0,2197	33.0	33.0	33.0		365	-3.5	0.0	16		33	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NRN1L	NM_198443.1	43	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	122/166	67920029	2,12992	2197	4300	6497	SO:0001583	missense	123904	13	121372	39				g.chr16:67920029G>A	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.365G>A	chr16.hg19:g.67920029G>A	ENSP00000342411:p.Arg122Gln	0					NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R|CTC-479C5.10_ENST00000572067.1_lincRNA	p.R122Q	NM_198443.1	NP_940845.1	1	2	3	2.034749	Q496H8	NRN1L_HUMAN		3	464	+		Ovarian(137;0.192)	Q6UWH7	Missense_Mutation	SNP	ENST00000339176.3	1	1	hg19	c.365G>A	CCDS10850.1	1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599853	0.28534	0.0	2.33E-4	ENSG00000188038	ENST00000339176	.	.	.	4.86	-3.54	0.04653	4.86	-3.54	0.04653	.	1.058750	0.07350	N	0.882262	T	0.10508	0.0257	N	0.01109	-1.01	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.29822	-0.9999	9	0.19147	T	0.46	.	6.5616	0.22489	0.4412:0.2124:0.3464:0.0	.	122	Q496H8	NRN1L_HUMAN	Q	122	.	ENSP00000342411:R122Q	R	+	2	0	0	NRN1L	66477530	66477530	0.010000	0.17322	0.049000	0.19019	0.006000	0.05464	0.003000	0.13083	-0.579000	0.05952	-1.417000	0.01113	CGG	0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.667	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	1	0	1	2	2	2	2	0	0	0	0	32	32	32	31	1	2.080000	-6.860764	1	0.680000	NM_198443		0	27	27	0	45	45	1		1	0		0	0	32	0	0	1	3.234139e-01	0	1	0	2	0	27	45
GPR179	440435	broad.mit.edu	37	17	36485458	36485458	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:36485458A>G	ENST00000342292.4	-	11	4014	c.3994T>C	c.(3994-3996)Tcc>Ccc	p.S1332P	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1332					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACCCAGGGGACAGACCTCCT	0.607																																						ENST00000342292.4	1.000000	2.000000e-02	0.170000	5.000000e-02	0.080000	0.205533	0.080000	0.070000																										0				60						c.(3994-3996)Tcc>Ccc		G protein-coupled receptor 179							48.0	53.0	51.0					17																	36485458		1981	4160	6141	SO:0001583	missense	440435	0	0					g.chr17:36485458A>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3994T>C	chr17.hg19:g.36485458A>G	ENSP00000345060:p.Ser1332Pro	1					GPR179_ENST00000584976.1_5'Flank	p.S1332P	NM_001004334.2	NP_001004334.2	2	2	4	2.154984	Q6PRD1	GP179_HUMAN		11	4014	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)		Missense_Mutation	SNP	ENST00000342292.4	0	1	hg19	c.3994T>C	CCDS42308.1	0	.	.	.	.	.	.	.	.	.	.	A	2.564	-0.301204	0.05495	.	.	ENSG00000188888	ENST00000342292	T	0.53206	0.63	4.74	1.23	0.21249	4.74	1.23	0.21249	.	0.407814	0.21212	N	0.078287	T	0.32912	0.0845	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.39692	T	0.17	-4.2878	4.6654	0.12662	0.6483:0.1668:0.185:0.0	.	1332	Q6PRD1	GP179_HUMAN	P	1332	ENSP00000345060:S1332P	ENSP00000345060:S1332P	S	-	1	0	0	GPR179	33738984	33738984	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.510000	0.22723	0.854000	0.35336	0.374000	0.22700	TCC	0.711400		TCGA-S4-A8RO-01A-12D-A377-08	0.607	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	0	0	1	2	2	2	2	0	0	0	0	60	60	60	57	1	2.080000	-6.856036	1	0.680000			0	5	5	0	207	202	0		1	0		0	0	60	0	0	9.342993e-01	9.128450e-04	0	0	0	2	0	5	207
KRTAP4-3	85290	broad.mit.edu	37	17	39324213	39324213	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39324213C>T	ENST00000391356.2	-	1	211	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	71	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagctggggcggcagcaggt	0.637																																						ENST00000391356.2	1.000000	6.300000e-01	1.000000	8.400000e-01	0.990000	0.945630	0.990000	1.000000																										0				12						c.(211-213)cGc>cAc		keratin associated protein 4-3							3.0	5.0	4.0					17																	39324213		1366	3428	4794	SO:0001583	missense	85290	0	0					g.chr17:39324213C>T	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.212G>A	chr17.hg19:g.39324213C>T	ENSP00000375151:p.Arg71His	1						p.R71H	NM_033187.1	NP_149443.1	2	2	4	2.154984	Q9BYR4	KRA43_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)	1	211	-		Breast(137;0.000496)		Missense_Mutation	SNP	ENST00000391356.2	0	1	hg19	c.212G>A	CCDS42331.1	1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.484619	0.44147	.	.	ENSG00000196156	ENST00000391356	T	0.01495	4.83	4.46	1.32	0.21799	4.46	1.32	0.21799	.	.	.	.	.	T	0.01870	0.0059	L	0.54908	1.71	0.09310	N	1	P	0.38335	0.627	B	0.23018	0.043	T	0.44667	-0.9313	9	0.66056	D	0.02	.	8.1078	0.30896	0.0:0.721:0.0:0.279	.	71	Q9BYR4	KRA43_HUMAN	H	71	ENSP00000375151:R71H	ENSP00000375151:R71H	R	-	2	0	0	KRTAP4-3	36577739	36577739	0.000000	0.05858	0.174000	0.22961	0.413000	0.31143	-0.095000	0.11077	0.081000	0.16988	0.609000	0.83330	CGC	0.711400		TCGA-S4-A8RO-01A-12D-A377-08	0.637	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1	1	0	0	2	2	2	2	0	0	0	0	9	9	9	0	1	2.080000	-4.420187	1	0.680000			0	12	0	0	25	0	0					0	0	9	0	0	0	0	0	0	0	0	0	12	25
KRT34	3885	broad.mit.edu	37	17	39537409	39537409	+	Missense_Mutation	SNP	G	G	A	rs375548630		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39537409G>A	ENST00000394001.1	-	3	643	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGATCCTGCGTATGCTGTTG	0.562																																						ENST00000394001.1	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				25						c.(613-615)Cgc>Tgc		keratin 34		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	154.0	127.0	136.0		613	5.5	1.0	17		136	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	205/437	39537409	1,13005	2203	4300	6503	SO:0001583	missense	3885	2	121412	39				g.chr17:39537409G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.613C>T	chr17.hg19:g.39537409G>A	ENSP00000377570:p.Arg205Cys	1						p.R205C	NM_021013.3	NP_066293.2	2	2	4	2.154984	O76011	KRT34_HUMAN		3	643	-		Breast(137;0.000496)	Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	1	1	hg19	c.613C>T	CCDS11390.1	1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.519112	0.64634	2.27E-4	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.52	5.52	0.82312	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000003	T	0.80019	0.4547	M	0.74881	2.28	0.48341	D	0.999631	D	0.89917	1.0	D	0.85130	0.997	T	0.81852	-0.0742	9	0.87932	D	0	.	18.419	0.90582	0.0:0.0:1.0:0.0	.	205	O76011	KRT34_HUMAN	C	163;205	.	ENSP00000251648:R205C	R	-	1	0	0	KRT34	36790935	36790935	0.995000	0.38212	1.000000	0.80357	0.497000	0.33675	2.210000	0.42816	2.606000	0.88127	0.655000	0.94253	CGC	0.711400		TCGA-S4-A8RO-01A-12D-A377-08	0.562	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	1	0	1	2	2	2	2	0	0	0	0	66	66	66	65	1	2.080000	-20.000000	1	0.680000	NM_021013		0	112	110	0	166	165	1		1			0	0	66	0	0	1	0	0	0	0	0	0	112	166
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	rs368249657		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6	0.080000	0	0.060000	2.000000e-02	0.030000	0.043786	0.030000	0.040000																										0				31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56.0	59.0	58.0					17																	4712837		2203	4300	6503	SO:0001583	missense	5338	1	121412	36				g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	chr17.hg19:g.4712837G>A	ENSP00000263088:p.Arg202His	1					RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	0	1	1	1.467511	O14939	PLD2_HUMAN		7	736	+			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	0	1	hg19	c.605G>A	CCDS11057.1	0	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	0	PLD2	4659801	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	0	0	1	2	2	2	2	0	0	0	0	93	93	93	93	1	2.080000	-2.064513	0	0.680000	NM_002663		0	5	5	0	258	255	0		1	0		0	0	93	0	0	9.362356e-01	8.680755e-02	0	0	0	21	0	5	258
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	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	8.300000e-01	0.990000	9.000000e-01	0.960000	0.953847	0.960000	0.990000		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		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	2	121412	36	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.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	chr17.hg19:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	p.R282W	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	1.467511	P04637	P53_HUMAN		8	1033	-		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.844C>T	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	2	TP53	7517819	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	2.080000	-17.795730	1	0.680000	NM_000546		0	50	50	0	35	35	1		1	1	1	0	0	28	1785	0	1	1	1	61	524	16	485	50	35
PTRF	284119	broad.mit.edu	37	17	40557353	40557353	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:40557353C>T	ENST00000357037.5	-	2	944	c.525G>A	c.(523-525)tcG>tcA	p.S175S		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.S175S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCAGCGCCTCCGACTCTTTCA	0.647																																						ENST00000357037.5	1.000000	9.300000e-01	1.000000	9.900000e-01	0.990000	0.994829	0.990000	1.000000																										1	Substitution - coding silent(1)	p.S175S(1)	large_intestine(1)	17						c.(523-525)tcG>tcA		polymerase I and transcript release factor							81.0	88.0	86.0					17																	40557353		2203	4300	6503	SO:0001819	synonymous_variant	284119	0	0					g.chr17:40557353C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.525G>A	chr17.hg19:g.40557353C>T		1						p.S175S	NM_012232.5	NP_036364.2	2	2	4	2.154984				2	944	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		Silent	SNP	ENST00000357037.5	1	1	hg19	c.525G>A	CCDS11425.1	1																																																																																								0.711400		TCGA-S4-A8RO-01A-12D-A377-08	0.647	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	1	0	1	2	2	2	2	0	0	0	0	101	101	101	97	1	2.080000	-14.659870	1	0.680000	NM_012232		0	177	174	0	367	356	1		1	1		0	0	101	0	0	1	1	0	26	0	173	0	177	367
DSC3	1825	broad.mit.edu	37	18	28610959	28610959	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:28610959G>A	ENST00000360428.4	-	3	414	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	DSC3_ENST00000434452.1_Silent_p.L112L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	112					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTCTAGCAGCACAGTAACC	0.338																																						ENST00000360428.4	1.000000	7.600000e-01	1.000000	8.400000e-01	0.910000	0.918646	0.910000	1.000000																										0				56						c.(334-336)Ctg>Ttg		desmocollin 3							103.0	93.0	96.0					18																	28610959		2203	4300	6503	SO:0001819	synonymous_variant	1825	0	0					g.chr18:28610959G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.334C>T	chr18.hg19:g.28610959G>A		0					DSC3_ENST00000434452.1_Silent_p.L112L	p.L112L	NM_001941.3	NP_001932.2	1	2	3	2.061145	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)	3	414	-			A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	1	1	hg19	c.334C>T	CCDS32810.1	1																																																																																								0.689501		TCGA-S4-A8RO-01A-12D-A377-08	0.338	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1	2	2	2	2	0	0	0	0	81	81	81	80	1	2.080000	-20.000000	1	0.680000	NM_001941, NM_024423		0	100	100	0	231	229	1		1			0	0	81	0	0	1	0	0	0	0	0	0	100	231
KEAP1	9817	broad.mit.edu	37	19	10610147	10610147	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:10610147G>C	ENST00000171111.5	-	2	1110	c.563C>G	c.(562-564)gCc>gGc	p.A188G	KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	188	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGCGAAGTTGGCGATGCCGAT	0.597																																						ENST00000171111.5	1.000000	7.900000e-01	1.000000	9.200000e-01	0.990000	0.971735	0.990000	1.000000																										0				92						c.(562-564)gCc>gGc		kelch-like ECH-associated protein 1	Dimethyl fumarate(DB08908)						99.0	79.0	86.0					19																	10610147		2203	4300	6503	SO:0001583	missense	9817	0	0					g.chr19:10610147G>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.563C>G	chr19.hg19:g.10610147G>C	ENSP00000171111:p.Ala188Gly	1					KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G|KEAP1_ENST00000588024.1_5'UTR	p.A188G	NM_203500.1	NP_987096.1	2	2	4	2.177001	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)	2	1110	-			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	1	1	hg19	c.563C>G	CCDS12239.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980801	0.74474	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69306	-0.39;-0.39	4.81	4.81	0.61882	4.81	4.81	0.61882	BTB/Kelch-associated (2);	0.053770	0.64402	D	0.000001	T	0.76962	0.4061	L	0.53617	1.68	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.79619	-0.1728	10	0.72032	D	0.01	.	15.3825	0.74669	0.0:0.0:1.0:0.0	.	188	Q14145	KEAP1_HUMAN	G	188	ENSP00000171111:A188G;ENSP00000377245:A188G	ENSP00000171111:A188G	A	-	2	0	0	KEAP1	10471147	10471147	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.017000	0.57167	2.232000	0.73038	0.561000	0.74099	GCC	0.714897		TCGA-S4-A8RO-01A-12D-A377-08	0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	1	0	1	2	2	2	2	0	0	0	0	33	33	33	32	1	2.080000	-20.000000	1	0.680000	NM_012289		0	38	38	0	82	81	0		1	1		0	0	33	0	0	1	1	0	41	0	66	0	38	82
UNC13A	23025	broad.mit.edu	37	19	17766751	17766751	+	Silent	SNP	G	G	A	rs369156469		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:17766751G>A	ENST00000519716.2	-	10	1223	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000428389.2_Silent_p.P496P|UNC13A_ENST00000252773.7_Silent_p.P408P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000551649.1_Silent_p.P408P	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	408					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACCTTGTCGGGCGTGGCTG	0.692																																						ENST00000519716.2	1.000000	6.000000e-01	1.000000	7.300000e-01	0.890000	0.877317	0.890000	1.000000																										0				61						c.(1222-1224)ccC>ccT		unc-13 homolog A (C. elegans)		G		1,4031		0,1,2015	22.0	27.0	25.0		1224	-8.5	0.0	19		25	1,8337		0,1,4168	no	coding-synonymous	UNC13A	NM_001080421.2		0,2,6183	AA,AG,GG		0.012,0.0248,0.0162		408/1704	17766751	2,12368	2016	4169	6185	SO:0001819	synonymous_variant	23025	10	120118	36				g.chr19:17766751G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1224C>T	chr19.hg19:g.17766751G>A		0					UNC13A_ENST00000551649.1_Silent_p.P408P|UNC13A_ENST00000252773.7_Silent_p.P408P|UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000428389.2_Silent_p.P496P	p.P408P	NM_001080421.2	NP_001073890.2	1	2	3	2.034048	Q9UPW8	UN13A_HUMAN		10	1223	-			E5RHY9	Silent	SNP	ENST00000519716.2	1	1	hg19	c.1224C>T	CCDS46013.2	1																																																																																								0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.692	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1	2	2	2	2	0	0	0	0	10	10	10	10	1	2.080000	-4.735589	1	0.680000	XM_038604		0	22	21	0	53	51	1		1			0	0	10	0	0	9.999995e-01	0	0	0	0	0	0	22	53
FXYD3	5349	broad.mit.edu	37	19	35613737	35613737	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:35613737G>A	ENST00000344013.6	+	6	362	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000435734.2_Missense_Mutation_p.V56I|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	56					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.V56L(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CATCATCATCGTCATGAGTGA	0.637																																						ENST00000344013.6	1.000000	8.800000e-01	1.000000	9.600000e-01	0.990000	0.985950	0.990000	1.000000																										1	Substitution - Missense(1)	p.V56L(1)	lung(1)	4						c.(166-168)Gtc>Atc		FXYD domain containing ion transport regulator 3							75.0	80.0	79.0					19																	35613737		2203	4300	6503	SO:0001583	missense	5349	0	0					g.chr19:35613737G>A	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.166G>A	chr19.hg19:g.35613737G>A	ENSP00000339499:p.Val56Ile	0					FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000435734.2_Missense_Mutation_p.V56I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I	p.V56I			1	2	3	2.034048	Q14802	FXYD3_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)	6	362	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	ENST00000344013.6	1	1	hg19	c.166G>A	CCDS12442.1	1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620212	0.14193	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.97	2.77	0.32553	4.97	2.77	0.32553	.	0.160135	0.41294	D	0.000906	T	0.24005	0.0581	N	0.02334	-0.595	0.20821	N	0.999848	B;B;B;B	0.33379	0.389;0.41;0.248;0.16	B;B;B;B	0.22386	0.039;0.036;0.024;0.027	T	0.23547	-1.0185	10	0.09084	T	0.74	-1.8921	11.7292	0.51726	0.0:0.6497:0.3503:0.0	.	113;56;56;56	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	I	56;113;56;56;56;113	ENSP00000385412:V56I;ENSP00000328259:V56I;ENSP00000339499:V56I;ENSP00000385200:V56I;ENSP00000443953:V113I	ENSP00000339499:V56I	V	+	1	0	0	FXYD3	40305577	40305577	0.031000	0.19500	0.271000	0.24616	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	-0.153000	0.13522	GTC	0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.637	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	1	0	1	2	2	2	2	0	0	0	0	45	45	45	43	1	2.080000	-20.000000	1	0.680000	NM_021910		0	108	109	0	204	202	1		1	1		0	0	45	0	0	1	1	0	1139	0	1443	0	108	204
HAUS5	23354	broad.mit.edu	37	19	36105981	36105981	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36105981G>A	ENST00000203166.5	+	5	282	c.257G>A	c.(256-258)cGc>cAc	p.R86H	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCTGTGACCCGCCTGCGGGCA	0.607																																						ENST00000203166.5	1.000000	5.200000e-01	1.000000	6.900000e-01	0.900000	0.864858	0.900000	1.000000																										0				16						c.(256-258)cGc>cAc		HAUS augmin-like complex, subunit 5							22.0	26.0	25.0					19																	36105981		1948	4145	6093	SO:0001583	missense	23354	2	120806	26				g.chr19:36105981G>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.257G>A	chr19.hg19:g.36105981G>A	ENSP00000439056:p.Arg86His	0					HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H|AC002115.9_ENST00000589603.1_lincRNA	p.R86H	NM_015302.1	NP_056117.1	1	2	3	2.034048	O94927	HAUS5_HUMAN		5	282	+			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	0	1	hg19	c.257G>A	CCDS42550.1	1	.	.	.	.	.	.	.	.	.	.	G	8.109	0.778332	0.16120	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.35421	1.31;1.31	4.94	0.373	0.16178	4.94	0.373	0.16178	.	0.501507	0.20263	N	0.095838	T	0.32224	0.0822	M	0.67953	2.075	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.28870	-1.0030	10	0.59425	D	0.04	-19.0807	7.3956	0.26934	0.3627:0.0:0.6373:0.0	.	86	O94927	HAUS5_HUMAN	H	86	ENSP00000439056:R86H;ENSP00000444373:R86H	ENSP00000439056:R86H	R	+	2	0	0	HAUS5	40797821	40797821	0.859000	0.29813	0.931000	0.37212	0.070000	0.16714	0.651000	0.24873	-0.066000	0.12998	-0.234000	0.12200	CGC	0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.607	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1	2	2	2	2	0	0	0	0	12	12	12	12	1	2.080000	-20.000000	1	0.680000			0	12	12	0	29	28	1		1	1		0	0	12	0	0	9.995117e-01	9.634036e-01	0	6	0	11	0	12	29
PSG7	5676	broad.mit.edu	37	19	43433817	43433817	+	RNA	SNP	C	C	T	rs565094467		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:43433817C>T	ENST00000406070.2	-	0	582				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TCACAGCCTCCGTGGCCTCCC	0.532													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19165	0.0		0.0	False		,,,				2504	0.0					ENST00000406070.2	1.000000	8.600000e-01	1.000000	9.100000e-01	0.960000	0.961279	0.960000	1.000000																										0												pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							196.0	195.0	196.0					19																	43433817		2201	4300	6501			5676	1	121340	33				g.chr19:43433817C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		chr19.hg19:g.43433817C>T		0					PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	1	2	3	2.047076	Q13046	PSG7_HUMAN		0	582	-		Prostate(69;0.00682)	Q15232	RNA	SNP	ENST00000406070.2	1	1	hg19			1																																																																																								0.688474		TCGA-S4-A8RO-01A-12D-A377-08	0.532	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	0	0	1	2	2	2	2	0	0	0	0	230	230	230	227	1	2.080000	-18.962320	1	0.680000	NM_001206650		0	274	274	0	584	579	0		1			0	0	230	0	0	1	0	0	0	0	0	0	274	584
HIF3A	64344	broad.mit.edu	37	19	46807230	46807230	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:46807230G>A	ENST00000377670.4	+	2	133	c.102G>A	c.(100-102)ctG>ctA	p.L34L	HIF3A_ENST00000244303.6_Missense_Mutation_p.C14Y|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000300862.3_Silent_p.L32L|HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	34	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCGAGGTGCTGTACCAGCTGG	0.672																																						ENST00000377670.4	1.000000	6.000000e-02	0.440000	1.200000e-01	0.220000	0.321265	0.220000	0.180000																										0				33						c.(100-102)ctG>ctA		hypoxia inducible factor 3, alpha subunit							12.0	15.0	14.0					19																	46807230		2193	4293	6486	SO:0001819	synonymous_variant	64344	0	0					g.chr19:46807230G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.102G>A	chr19.hg19:g.46807230G>A		1					HIF3A_ENST00000244303.6_Missense_Mutation_p.C14Y|HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000300862.3_Silent_p.L32L|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000339613.2_5'UTR	p.L34L	NM_152795.3	NP_690008.2	2	2	4	2.144197	Q9Y2N7	HIF3A_HUMAN		2	133	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	0	1	hg19	c.102G>A	CCDS12681.2	0	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729761	0.69074	.	.	ENSG00000124440	ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102	T;T	0.67171	-0.16;-0.25	4.97	2.85	0.33270	4.97	2.85	0.33270	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.53287	-0.8460	8	0.87932	D	0	.	4.5387	0.12047	0.1824:0.0:0.6419:0.1757	.	32;14;32	F5H884;B4DNA2;B4DSD9	.;.;.	Y	14;14;14;14;32	ENSP00000244303:C14Y;ENSP00000407771:C32Y	ENSP00000244303:C14Y	C	+	2	0	0	HIF3A	51499070	51499070	0.834000	0.29399	1.000000	0.80357	0.998000	0.95712	-0.000000	0.12993	0.811000	0.34303	0.563000	0.77884	TGT	0.709619		TCGA-S4-A8RO-01A-12D-A377-08	0.672	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3	0	0	1	2	2	2	2	0	0	0	0	10	10	10	10	1	2.080000	-7.466402	1	0.680000			0	3	3	0	51	50	0		1			0	0	10	0	0	8.066311e-01	0	0	0	0	0	0	3	51
LILRA1	11024	broad.mit.edu	37	19	55107243	55107243	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:55107243G>A	ENST00000251372.3	+	6	983	c.801G>A	c.(799-801)caG>caA	p.Q267Q	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	267	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L268I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACTTCCTCCAGCTCCCTGGCC	0.607																																						ENST00000251372.3	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	0.999964	0.990000	1.000000																										1	Substitution - Missense(1)	p.L268I(1)	lung(1)	47						c.(799-801)caG>caA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							106.0	104.0	104.0					19																	55107243		2203	4300	6503	SO:0001819	synonymous_variant	11024	0	0					g.chr19:55107243G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.801G>A	chr19.hg19:g.55107243G>A		1					LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	p.Q267Q	NM_006863.2	NP_006854.1	2	2	4	2.133410	O75019	LIRA1_HUMAN		6	983	+			O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	1	1	hg19	c.801G>A	CCDS12901.1	1																																																																																								0.707816		TCGA-S4-A8RO-01A-12D-A377-08	0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	1	0	1	2	2	2	2	0	0	0	0	68	68	68	68	1	2.080000	-20.000000	1	0.680000	NM_006863		0	143	142	0	232	232	0		1			0	0	68	0	0	1	0	0	0	0	0	0	143	232
ANKRD34A	284615	broad.mit.edu	37	1	145474036	145474036	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145474036C>T	ENST00000323397.4	+	4	2001	c.708C>T	c.(706-708)cgC>cgT	p.R236R	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	236	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCACCACGCCATCCCCCAA	0.622																																						ENST00000323397.4	1.000000	7.000000e-01	1.000000	7.500000e-01	0.820000	0.855398	0.820000	0.800000																										0				20						c.(706-708)cgC>cgT		ankyrin repeat domain 34A							71.0	83.0	79.0					1																	145474036		2203	4300	6503	SO:0001819	synonymous_variant	284615	0	0					g.chr1:145474036C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.708C>T	chr1.hg19:g.145474036C>T		1					RP11-315I20.1_ENST00000600340.1_RNA	p.R236R	NM_001039888.2	NP_001034977.1	1	3	4	2.762408	Q69YU3	AN34A_HUMAN		4	2001	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		B3KSU3	Silent	SNP	ENST00000323397.4	1	1	hg19	c.708C>T	CCDS30829.1	0																																																																																								0.771624		TCGA-S4-A8RO-01A-12D-A377-08	0.622	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1	1	0	1	2	2	2	2	0	0	0	0	124	124	124	120	1	2.080000	-20.000000	1	0.680000			0	164	161	0	672	644	1		1	0		0	0	124	0	0	1	3.364621e-01	0	1	0	5	0	164	672
ANKRD35	148741	broad.mit.edu	37	1	145558485	145558485	+	Silent	SNP	C	C	T	rs377359716		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145558485C>T	ENST00000355594.4	+	6	513	c.426C>T	c.(424-426)caC>caT	p.H142H	ANKRD35_ENST00000544626.1_Missense_Mutation_p.T123M	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	142										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTGTGACCACGAAGCCTTCC	0.542																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4	1.000000	8.200000e-01	1.000000	9.100000e-01	0.990000	0.967891	0.990000	1.000000																										0				47						c.(424-426)caC>caT		ankyrin repeat domain 35							148.0	131.0	136.0					1																	145558485		2203	4300	6503	SO:0001819	synonymous_variant	148741	0	0					g.chr1:145558485C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.426C>T	chr1.hg19:g.145558485C>T		1					ANKRD35_ENST00000544626.1_Missense_Mutation_p.T123M	p.H142H	NM_144698.3	NP_653299.4	1	3	4	2.762408	Q8N283	ANR35_HUMAN		6	513	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	1	1	hg19	c.426C>T	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326612	0.41197	.	.	ENSG00000198483	ENST00000544626	T	0.15603	2.41	5.09	-7.84	0.01196	5.09	-7.84	0.01196	.	.	.	.	.	T	0.11281	0.0275	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	T	0.14559	-1.0468	6	0.72032	D	0.01	-16.9738	16.3209	0.82951	0.0:0.2377:0.0:0.7623	.	.	.	.	M	123	ENSP00000442671:T123M	ENSP00000442671:T123M	T	+	2	0	0	ANKRD35	144269842	144269842	0.000000	0.05858	0.525000	0.27900	0.977000	0.68977	-4.830000	0.00180	-1.784000	0.01272	-0.768000	0.03414	ACG	0.771624		TCGA-S4-A8RO-01A-12D-A377-08	0.542	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	0	0	1	2	2	2	2	0	0	0	0	68	68	68	66	1	2.080000	-20.000000	1	0.680000	NM_144698		0	91	91	0	290	283	1		1			0	0	68	0	0	1	0	0	0	0	0	0	91	290
C1orf105	92346	broad.mit.edu	37	1	172437641	172437641	+	Silent	SNP	C	C	T	rs181855196	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:172437641C>T	ENST00000367727.4	+	7	657	c.459C>T	c.(457-459)caC>caT	p.H153H	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.H143H	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	153										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGTCTTCCACGGATTACTGA	0.478													C|||	3	0.000599042	0.0	0.0	5008	,	,		17415	0.002		0.0	False		,,,				2504	0.001					ENST00000367727.4	1.000000	3.000000e-02	1.000000	5.000000e-02	0.070000	0.297416	0.070000	0.060000																										0				15						c.(457-459)caC>caT		chromosome 1 open reading frame 105							161.0	171.0	168.0					1																	172437641		2203	4300	6503	SO:0001819	synonymous_variant	92346	25	121412	50				g.chr1:172437641C>T	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.459C>T	chr1.hg19:g.172437641C>T		1					C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.H143H	p.H153H	NM_139240.3	NP_640333.3	1	3	4	2.693787	O95561	CA105_HUMAN		7	657	+			Q8IY02	Silent	SNP	ENST00000367727.4	0	1	hg19	c.459C>T	CCDS1301.1	0																																																																																								0.765945		TCGA-S4-A8RO-01A-12D-A377-08	0.478	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	0	0	1	2	2	2	2	0	0	0	0	187	187	187	186	1	2.080000	-2.491726	0	0.680000	NM_139240		0	23	23	0	1249	1229	0		1			0	0	187	0	0	9.999992e-01	0	0	0	0	0	0	23	1249
CRB1	23418	broad.mit.edu	37	1	197411423	197411423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:197411423G>A	ENST00000367400.3	+	11	4140		c.e11+1		CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAGGTGGACGTAAGCAGCCT	0.478																																						ENST00000367400.3	1.000000	0	0.050000	1.000000e-02	0.020000	0.083759	0.020000	0.020000																										0				132	GRCh37	CS040833	CRB1	S		c.e11+1		crumbs family member 1, photoreceptor morphogenesis associated							198.0	182.0	187.0					1																	197411423		2203	4300	6503	SO:0001630	splice_region_variant	23418	0	0					g.chr1:197411423G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.4005+1G>A	chr1.hg19:g.197411423G>A		0					RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR		NM_201253.2	NP_957705.1	1	2	3	2.035892	P82279	CRUM1_HUMAN		11	4140	+			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	0	1	hg19		CCDS1390.1	0	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650712	0.87958	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CRB1	195678046	195678046	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.916000	0.87491	2.629000	0.89072	0.591000	0.81541	.	0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.478	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	0	0	1	2	2	2	2	0	0	0	0	113	113	113	113	1	2.080000	-2.219277	0	0.680000	NM_201253	Intron	0	5	5	0	585	580	0		1			0	0	113	0	0	9.360915e-01	0	0	0	0	0	0	5	585
USH2A	7399	broad.mit.edu	37	1	216144042	216144042	+	Silent	SNP	G	G	A	rs147615382		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:216144042G>A	ENST00000307340.3	-	36	7268	c.6882C>T	c.(6880-6882)taC>taT	p.Y2294Y	USH2A_ENST00000366943.2_Silent_p.Y2294Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAATCCGTAAGCACGAT	0.418										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0	0.050000	0	0.020000	0.081753	0.020000	0.020000																										0				527						c.(6880-6882)taC>taT		Usher syndrome 2A (autosomal recessive, mild)		G		2,4404	4.2+/-10.8	0,2,2201	112.0	106.0	108.0		6882	-1.1	0.2	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		2294/5203	216144042	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7399	11	121398	44				g.chr1:216144042G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6882C>T	chr1.hg19:g.216144042G>A		0	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Silent_p.Y2294Y	p.Y2294Y	NM_206933.2	NP_996816	1	2	3	2.041515	O75445	USH2A_HUMAN		36	7268	-			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	0	1	hg19	c.6882C>T	CCDS31025.1	0																																																																																								0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	1	2	2	2	2	0	0	0	0	131	131	131	130	1	2.080000	-2.620824	1	0.680000	NM_007123		0	5	5	0	632	624	0		1			0	0	131	0	0	9.356635e-01	0	0	0	0	0	0	5	632
FMN2	56776	broad.mit.edu	37	1	240256586	240256586	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:240256586G>A	ENST00000319653.9	+	1	1407	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	393					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A536T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGACGCCCCCGCGGCCGCTTC	0.726																																						ENST00000319653.9	1.000000	8.600000e-01	1.000000	9.900000e-01	0.990000	0.989597	0.990000	1.000000																										1	Substitution - Missense(1)	p.A536T(1)	endometrium(1)	178						c.(1177-1179)Gcg>Acg		formin 2							17.0	23.0	21.0					1																	240256586		2191	4287	6478	SO:0001583	missense	56776	0	0					g.chr1:240256586G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1177G>A	chr1.hg19:g.240256586G>A	ENSP00000318884:p.Ala393Thr	0						p.A393T	NM_020066.4	NP_064450.3	1	2	3	2.041515	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	1	1407	+	Ovarian(103;0.127)	all_cancers(173;0.013)	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	1	1	hg19	c.1177G>A	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	3.560	-0.089766	0.07053	.	.	ENSG00000155816	ENST00000319653	T	0.28255	1.62	4.15	-0.182	0.13287	4.15	-0.182	0.13287	.	0.885835	0.09526	N	0.790278	T	0.15435	0.0372	N	0.12182	0.205	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.24476	-1.0159	10	0.46703	T	0.11	.	5.4466	0.16539	0.2993:0.1625:0.5382:0.0	.	393	Q9NZ56	FMN2_HUMAN	T	393	ENSP00000318884:A393T	ENSP00000318884:A393T	A	+	1	0	0	FMN2	238323209	238323209	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.165000	0.09968	0.085000	0.17107	-0.379000	0.06801	GCG	0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	1	0	1	2	2	2	2	0	0	0	0	16	16	16	16	1	2.080000	-20.000000	1	0.680000	XM_371352		0	38	37	0	62	62	0		1	0		0	0	16	0	0	1	0	0	0	0	1	0	38	62
PPP1R16B	26051	broad.mit.edu	37	20	37547257	37547257	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:37547257C>G	ENST00000299824.1	+	11	1841	c.1652C>G	c.(1651-1653)gCc>gGc	p.A551G	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTTCAAGGCCCCCATAGAG	0.572																																						ENST00000299824.1	1.000000	7.300000e-01	1.000000	8.400000e-01	0.980000	0.939121	0.980000	1.000000																										0				49						c.(1651-1653)gCc>gGc		protein phosphatase 1, regulatory subunit 16B							54.0	52.0	53.0					20																	37547257		2203	4300	6503	SO:0001583	missense	26051	0	0					g.chr20:37547257C>G	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1652C>G	chr20.hg19:g.37547257C>G	ENSP00000299824:p.Ala551Gly	1					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	p.A551G	NM_015568.2	NP_056383.1	1	2	3	2.228471	Q96T49	PP16B_HUMAN		11	1841	+		Myeloproliferative disorder(115;0.00878)	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	1	1	hg19	c.1652C>G	CCDS13309.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278924|3.278924	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.77229|.	-0.81;-1.08|.	5.35|5.35	5.35|5.35	0.76521|0.76521	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.188207|.	0.48767|.	D|.	0.000177|.	T|T	0.64438|0.64438	0.2598|0.2598	M|M	0.61703|0.61703	1.905|1.905	0.32685|0.32685	N|N	0.514994|0.514994	D;D|.	0.61080|.	0.989;0.98|.	P;P|.	0.57101|.	0.813;0.813|.	T|T	0.70619|0.70619	-0.4822|-0.4822	10|5	0.59425|.	D|.	0.04|.	.|.	17.2316|17.2316	0.86985|0.86985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	509;551|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	G|A	551;509|452	ENSP00000299824:A551G;ENSP00000362428:A509G|.	ENSP00000299824:A551G|.	A|P	+|+	2|1	0|0	0|0	PPP1R16B|PPP1R16B	36980671|36980671	36980671|36980671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.088000|5.088000	0.64486|0.64486	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GCC|CCC	0.718310		TCGA-S4-A8RO-01A-12D-A377-08	0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	1	0	1	2	2	2	2	0	0	0	0	31	31	31	30	1	2.080000	-20.000000	1	0.680000	NM_015568		0	48	48	0	123	122	1		1	0		0	0	31	0	0	1	4.362384e-01	0	0	0	5	0	48	123
RIMS4	140730	broad.mit.edu	37	20	43386349	43386349	+	Missense_Mutation	SNP	C	C	T	rs141614672	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:43386349C>T	ENST00000372851.3	-	4	479	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	138	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R138Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCAGTCCCCGAGCCTGGAT	0.597																																						ENST00000372851.3	1.000000	8.300000e-01	1.000000	9.100000e-01	0.990000	0.968005	0.990000	1.000000																										1	Substitution - Missense(1)	p.R138Q(1)	endometrium(1)	29						c.(412-414)cGg>cAg		regulating synaptic membrane exocytosis 4		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	124.0	102.0	109.0		416,413	4.8	0.8	20	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RIMS4	NM_001205317.1,NM_182970.3	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	139/271,138/270	43386349	2,13004	2203	4300	6503	SO:0001583	missense	140730	2	121412	38				g.chr20:43386349C>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.413G>A	chr20.hg19:g.43386349C>T	ENSP00000361942:p.Arg138Gln	1					RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	p.R138Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	1	2	3	2.228471	Q9H426	RIMS4_HUMAN		4	479	-		Myeloproliferative disorder(115;0.0122)	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	1	1	hg19	c.413G>A	CCDS13338.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.371169	0.95923	0.0	2.33E-4	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.69806	-0.43;-0.43	5.76	4.82	0.62117	5.76	4.82	0.62117	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.95;0.969	D	0.85425	0.1145	10	0.87932	D	0	.	14.8657	0.70412	0.0:0.9312:0.0:0.0688	.	139;138	E1P613;Q9H426	.;RIMS4_HUMAN	Q	138;139	ENSP00000361942:R138Q;ENSP00000439287:R139Q	ENSP00000361942:R138Q	R	-	2	0	0	RIMS4	42819763	42819763	1.000000	0.71417	0.813000	0.32504	0.910000	0.53928	6.089000	0.71384	1.457000	0.47850	0.655000	0.94253	CGG	0.718310		TCGA-S4-A8RO-01A-12D-A377-08	0.597	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	1	0	1	2	2	2	2	0	0	0	0	57	57	57	55	1	2.080000	-7.457733	1	0.680000	NM_182970		0	109	107	0	263	258	1		1			0	0	57	0	0	1	0	0	0	0	0	0	109	263
ZNF831	128611	broad.mit.edu	37	20	57769643	57769643	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:57769643G>A	ENST00000371030.2	+	1	3569	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1190							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTGAGCCGCAGTGTCCCT	0.647																																						ENST00000371030.2	1.000000	2.000000e-02	1.000000	4.000000e-02	0.080000	0.301524	0.080000	0.070000																										0				125						c.(3568-3570)cGc>cAc		zinc finger protein 831							37.0	43.0	41.0					20																	57769643		2073	4204	6277	SO:0001583	missense	128611	3	121046	34				g.chr20:57769643G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3569G>A	chr20.hg19:g.57769643G>A	ENSP00000360069:p.Arg1190His	1						p.R1190H	NM_178457.1	NP_848552.1	1	2	3	2.271971	Q5JPB2	ZN831_HUMAN		1	3569	+	all_lung(29;0.0085)		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	0	1	hg19	c.3569G>A	CCDS42894.1	0	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708768	0.68615	.	.	ENSG00000124203	ENST00000371030	T	0.08896	3.04	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.227351	0.29355	N	0.012399	T	0.21921	0.0528	L	0.52573	1.65	0.31710	N	0.639596	D	0.89917	1.0	D	0.71656	0.974	T	0.03112	-1.1071	10	0.87932	D	0	-16.6053	12.8728	0.57975	0.0814:0.0:0.9186:0.0	.	1190	Q5JPB2	ZN831_HUMAN	H	1190	ENSP00000360069:R1190H	ENSP00000360069:R1190H	R	+	2	0	0	ZNF831	57203038	57203038	0.988000	0.35896	1.000000	0.80357	0.678000	0.39670	3.840000	0.55843	2.352000	0.79861	0.609000	0.83330	CGC	0.721642		TCGA-S4-A8RO-01A-12D-A377-08	0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	0	1	2	2	2	2	0	0	0	0	50	50	50	49	1	2.080000	-5.985948	1	0.680000	NM_178457		0	5	5	0	239	230	0		1			0	0	50	0	0	9.318401e-01	0	0	0	0	0	0	5	239
SLCO4A1	28231	broad.mit.edu	37	20	61300301	61300301	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:61300301C>T	ENST00000370507.1	+	10	1992	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Silent_p.I632I|RP11-93B14.5_ENST00000451648.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	632					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGGGGCCCATCGCCTTCGGCT	0.662											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	ENST00000370507.1	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1894-1896)atC>atT		solute carrier organic anion transporter family, member 4A1	Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)						34.0	36.0	35.0					20																	61300301		2202	4300	6502	SO:0001819	synonymous_variant	28231	1	121276	34				g.chr20:61300301C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1896C>T	chr20.hg19:g.61300301C>T		1		OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Silent_p.I632I|RP11-93B14.5_ENST00000451648.1_RNA	p.I632I			1	2	3	2.271971	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)	10	1992	+	Breast(26;3.65e-08)		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	1	1	hg19	c.1896C>T	CCDS13501.1	1																																																																																								0.721642		TCGA-S4-A8RO-01A-12D-A377-08	0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	1	0	1	2	2	2	2	0	0	0	0	30	30	30	29	1	2.080000	-20.000000	1	0.680000	NM_016354		0	91	91	0	110	105	1		1	1		0	0	30	0	0	1	1	0	30	0	29	0	91	110
TPTE	7179	broad.mit.edu	37	21	10942745	10942745	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr21:10942745C>A	ENST00000361285.4	-	13	1025	c.696G>T	c.(694-696)agG>agT	p.R232S	TPTE_ENST00000298232.7_Missense_Mutation_p.R214S|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	232	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAATCCATCCCTTGTGTATC	0.308																																						ENST00000361285.4	0.550000	4.000000e-01	0.520000	4.300000e-01	0.470000	0.481077	0.470000	0.480000																										0				130						c.(694-696)agG>agT		transmembrane phosphatase with tensin homology							484.0	423.0	444.0					21																	10942745		2203	4300	6503	SO:0001583	missense	7179	1	121412	31				g.chr21:10942745C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.696G>T	chr21.hg19:g.10942745C>A	ENSP00000355208:p.Arg232Ser	1					TPTE_ENST00000298232.7_Missense_Mutation_p.R214S|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S|TPTE_ENST00000415664.2_5'UTR	p.R232S	NM_199261.2	NP_954870	0	2	2	1.636674	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	13	1025	-			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	1	1	hg19	c.696G>T	CCDS13560.2	0	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246943	0.22796	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29142	1.58;1.58;1.58	2.07	0.162	0.14981	2.07	0.162	0.14981	Phosphatase tensin type (1);	0.162065	0.52532	U	0.000067	T	0.24890	0.0604	L	0.46157	1.445	0.26087	N	0.981001	B;B;B	0.33345	0.409;0.409;0.012	B;B;B	0.37422	0.196;0.249;0.008	T	0.16188	-1.0411	10	0.66056	D	0.02	-10.1256	6.055	0.19807	0.0:0.6974:0.0:0.3026	.	194;214;232	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	214;232;194	ENSP00000298232:R214S;ENSP00000355208:R232S;ENSP00000344441:R194S	ENSP00000298232:R214S	R	-	3	2	2	TPTE	9964616	9964616	0.996000	0.38824	0.396000	0.26296	0.598000	0.36846	0.311000	0.19380	0.028000	0.15324	0.194000	0.17425	AGG	0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	0	0	1	2	2	2	2	1	1	1	0	282	282	282	281	1	2.080000	-3.319936	1	0.680000			0	144	142	0	740	727	0		1			1	0	282	0	0	1	0	0	0	0	0	0	144	740
MYT1L	23040	broad.mit.edu	37	2	1983497	1983497	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:1983497C>A	ENST00000399161.2	-	6	800	c.53G>T	c.(52-54)cGa>cTa	p.R18L	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACATACCTCGAACCCCTTT	0.582																																						ENST00000399161.2	1.000000	5.400000e-01	0.880000	6.300000e-01	0.740000	0.759420	0.740000	0.740000																										0				97						c.(52-54)cGa>cTa		myelin transcription factor 1-like							50.0	58.0	55.0					2																	1983497		2010	4177	6187	SO:0001583	missense	23040	0	0					g.chr2:1983497C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.53G>T	chr2.hg19:g.1983497C>A	ENSP00000382114:p.Arg18Leu	0					MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	p.R18L	NM_015025.2	NP_055840.2	1	2	3	2.047543	Q9UL68	MYT1L_HUMAN		6	800	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	1	1	hg19	c.53G>T		0	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324853	0.81580	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56444	0.46;0.46	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.47852	D	0.000207	T	0.69251	0.3090	L	0.54323	1.7	0.58432	D	0.999995	D;D	0.63046	0.987;0.992	D;D	0.70487	0.931;0.969	T	0.71656	-0.4527	10	0.72032	D	0.01	-19.3941	18.8902	0.92397	0.0:1.0:0.0:0.0	.	18;18	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	18	ENSP00000382114:R18L;ENSP00000396103:R18L	ENSP00000295067:R18L	R	-	2	0	0	MYT1L	1962504	1962504	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.591000	0.74090	2.539000	0.85634	0.591000	0.81541	CGA	0.688474		TCGA-S4-A8RO-01A-12D-A377-08	0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	1	2	2	2	2	0	0	0	0	26	26	26	26	1	2.080000	-20.000000	1	0.680000	NM_015025		0	37	37	0	115	114	1		1	0		0	0	26	0	0	1	0	0	0	0	1	0	37	115
LRP1B	53353	broad.mit.edu	37	2	141264372	141264372	+	Silent	SNP	C	C	T	rs139084384	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:141264372C>T	ENST00000389484.3	-	53	9485	c.8514G>A	c.(8512-8514)ccG>ccA	p.P2838P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2838	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCACACTGCGGTGACTCAT	0.383										TSP Lung(27;0.18)			T|||	16	0.00319489	0.0121	0.0	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	ENST00000389484.3	1.000000	6.800000e-01	0.850000	7.300000e-01	0.780000	0.799164	0.780000	0.790000																										0				606						c.(8512-8514)ccG>ccA		low density lipoprotein receptor-related protein 1B		T		71,4335	819.9+/-416.4	0,71,2132	158.0	151.0	153.0		8514	0.3	0.0	2	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,71,6432	TT,TC,CC		0.0,1.6114,0.5459		2838/4600	141264372	71,12935	2203	4300	6503	SO:0001819	synonymous_variant	53353	152	121412	56				g.chr2:141264372C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8514G>A	chr2.hg19:g.141264372C>T		0	TSP Lung(27;0.18)					p.P2838P	NM_018557.2	NP_061027.2	1	2	3	2.024125	Q9NZR2	LRP1B_HUMAN		53	9485	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	1	0	hg19	c.8514G>A	CCDS2182.1	0																																																																																								0.686397		TCGA-S4-A8RO-01A-12D-A377-08	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	2	2	2	2	0	0	0	0	176	176	176	176	1	2.080000	-2.598642	1	0.680000	NM_018557		0	184	180	0	517	510	1		1			0	0	176	0	0	1	0	0	0	0	0	0	184	517
WNT6	7475	broad.mit.edu	37	2	219735855	219735855	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:219735855G>A	ENST00000233948.3	+	2	404	c.187G>A	c.(187-189)Gca>Aca	p.A63T	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	63					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTGGTGGCAGAGCTAGC	0.682																																						ENST00000233948.3	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				4						c.(187-189)Gca>Aca		wingless-type MMTV integration site family, member 6							48.0	61.0	56.0					2																	219735855		2203	4298	6501	SO:0001583	missense	7475	0	0					g.chr2:219735855G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.187G>A	chr2.hg19:g.219735855G>A	ENSP00000233948:p.Ala63Thr	1					WNT6_ENST00000486233.1_Intron	p.A63T	NM_006522.3	NP_006513.1	1	2	3	2.532077	Q9Y6F9	WNT6_HUMAN		2	404	+		Renal(207;0.0474)	Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	1	1	hg19	c.187G>A	CCDS2425.1	1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013700	0.35511	.	.	ENSG00000115596	ENST00000233948	T	0.76448	-1.02	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.451424	0.24781	N	0.035645	T	0.63581	0.2523	L	0.31926	0.97	0.24988	N	0.991557	B	0.16396	0.017	B	0.19391	0.025	T	0.46386	-0.9195	10	0.14252	T	0.57	.	7.7483	0.28881	0.0881:0.1792:0.7326:0.0	.	63	Q9Y6F9	WNT6_HUMAN	T	63	ENSP00000233948:A63T	ENSP00000233948:A63T	A	+	1	0	0	WNT6	219444099	219444099	0.948000	0.32251	0.996000	0.52242	0.887000	0.51463	1.737000	0.38197	2.407000	0.81776	0.586000	0.80456	GCA	0.750429		TCGA-S4-A8RO-01A-12D-A377-08	0.682	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	1	0	1	2	2	2	2	0	0	0	0	66	66	66	62	1	2.080000	-20.000000	1	0.680000	NM_006522		0	302	300	0	298	294	1		1			0	0	66	0	0	1	0	0	0	0	0	0	302	298
CRIM1	51232	broad.mit.edu	37	2	36704145	36704145	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:36704145G>A	ENST00000280527.2	+	6	1472	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	369	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCTTCACCGCCCAGTGTGG	0.483																																						ENST00000280527.2	1.000000	0	0.080000	2.000000e-02	0.040000	0.113295	0.040000	0.040000																										0				45						c.(1105-1107)Gcc>Acc		cysteine rich transmembrane BMP regulator 1 (chordin-like)							125.0	111.0	116.0					2																	36704145		2203	4300	6503	SO:0001583	missense	51232	1	121412	28				g.chr2:36704145G>A	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1105G>A	chr2.hg19:g.36704145G>A	ENSP00000280527:p.Ala369Thr	0						p.A369T	NM_016441.2	NP_057525.1	1	2	3	2.047543	Q9NZV1	CRIM1_HUMAN		6	1472	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	0	1	hg19	c.1105G>A	CCDS1783.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.175054	0.94807	.	.	ENSG00000150938	ENST00000280527	T	0.71579	-0.58	5.93	5.93	0.95920	5.93	5.93	0.95920	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67169	-0.5738	10	0.14656	T	0.56	-18.4323	19.3421	0.94347	0.0:0.0:1.0:0.0	.	369	Q9NZV1	CRIM1_HUMAN	T	369	ENSP00000280527:A369T	ENSP00000280527:A369T	A	+	1	0	0	CRIM1	36557649	36557649	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	9.714000	0.98744	2.826000	0.97356	0.655000	0.94253	GCC	0.688474		TCGA-S4-A8RO-01A-12D-A377-08	0.483	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	0	0	1	2	2	2	2	0	0	0	0	81	81	81	79	1	2.080000	-2.829005	1	0.680000	NM_016441		0	5	6	0	338	331	0		1	0		0	0	81	0	0	9.350545e-01	5.081038e-02	0	0	0	20	0	5	338
GFPT1	2673	broad.mit.edu	37	2	69556893	69556893	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:69556893G>A	ENST00000357308.4	-	16	1698	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V	GFPT1_ENST00000361060.5_Missense_Mutation_p.A489V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	507	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CATCATAAGGGCAAACATCAC	0.408																																						ENST00000357308.4	0.100000	1.000000e-02	0.070000	2.000000e-02	0.040000	0.050286	0.040000	0.040000																										0				12						c.(1519-1521)gCc>gTc		glutamine--fructose-6-phosphate transaminase 1							137.0	118.0	125.0					2																	69556893		2203	4300	6503	SO:0001583	missense	2673	0	0					g.chr2:69556893G>A		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1520C>T	chr2.hg19:g.69556893G>A	ENSP00000349860:p.Ala507Val	1					GFPT1_ENST00000361060.5_Missense_Mutation_p.A489V	p.A507V	NM_001244710.1	NP_001231639.1	0	1	1	1.369433	Q06210	GFPT1_HUMAN		16	1698	-			Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	0	1	hg19	c.1520C>T	CCDS58713.1	0	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875075	0.91664	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.62941	-0.01;-0.01	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.86268	2.805	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.82959	-0.0198	10	0.87932	D	0	-11.8633	18.081	0.89441	0.0:0.0:1.0:0.0	.	489	Q06210-2	.	V	507;489	ENSP00000349860:A507V;ENSP00000354347:A489V	ENSP00000349860:A507V	A	-	2	0	0	GFPT1	69410397	69410397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.388000	0.59633	2.758000	0.94735	0.563000	0.77884	GCC	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	43	43	43	42	1	2.080000	-2.831103	1	0.680000			0	4	4	0	186	184	0		1	0		0	0	43	0	0	8.887550e-01	3.043414e-01	0	0	0	43	0	4	186
AGXT	189	broad.mit.edu	37	2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:241817502G>A	ENST00000307503.3	+	10	1393	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1). {ECO:0000269|PubMed:15253729}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.V336I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GAGAGACATCGTCAGCTACGT	0.617																																						ENST00000307503.3	1.000000	7.900000e-01	0.990000	8.600000e-01	0.930000	0.930125	0.930000	0.990000																										1	Substitution - Missense(1)	p.V336I(1)	central_nervous_system(1)	18						c.(1006-1008)Gtc>Atc		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)						58.0	51.0	53.0					2																	241817502		2203	4300	6503	SO:0001583	missense	189	3	121410	36				g.chr2:241817502G>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.1006G>A	chr2.hg19:g.241817502G>A	ENSP00000302620:p.Val336Ile	1						p.V336I	NM_000030.2	NP_000021.1	0	1	1	1.295188	P21549	SPYA_HUMAN		10	1393	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	1	1	hg19	c.1006G>A	CCDS2543.1	1	.	.	.	.	.	.	.	.	.	.	G	3.824	-0.037151	0.07497	.	.	ENSG00000172482	ENST00000307503	D	0.93547	-3.24	4.02	1.11	0.20524	4.02	1.11	0.20524	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.923809	0.09133	N	0.844131	D	0.86460	0.5938	L	0.41573	1.285	0.09310	N	1	B;B	0.32338	0.365;0.109	B;B	0.22386	0.039;0.018	T	0.72487	-0.4278	10	0.19147	T	0.46	-28.2281	6.537	0.22359	0.4922:0.0:0.5077:0.0	.	214;336	Q9UJX1;P21549	.;SPYA_HUMAN	I	336	ENSP00000302620:V336I	ENSP00000302620:V336I	V	+	1	0	0	AGXT	241466175	241466175	0.000000	0.05858	0.445000	0.26908	0.097000	0.18754	0.572000	0.23684	0.294000	0.22547	0.563000	0.77884	GTC	0.515152		TCGA-S4-A8RO-01A-12D-A377-08	0.617	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	1	0	1	2	2	2	2	0	0	0	0	23	23	23	23	1	2.080000	-20.000000	1	0.680000	NM_000030		0	53	52	0	48	47	1		1	0		0	0	23	0	0	1	0	0	1	0	0	0	53	48
PROS1	5627	broad.mit.edu	37	3	93611912	93611912	+	Nonsense_Mutation	SNP	G	G	C	rs374634410		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:93611912G>C	ENST00000394236.3	-	10	1336	c.1020C>G	c.(1018-1020)taC>taG	p.Y340*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TAGATTCTGCGTACAGTATCA	0.393																																						ENST00000394236.3	1.000000	8.100000e-01	1.000000	9.100000e-01	0.990000	0.969547	0.990000	1.000000																										0				46						c.(1018-1020)taC>taG		protein S (alpha)	Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						83.0	77.0	79.0					3																	93611912		2203	4300	6503	SO:0001587	stop_gained	5627	0	0					g.chr3:93611912G>C		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1020C>G	chr3.hg19:g.93611912G>C	ENSP00000377783:p.Tyr340*	0					PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	p.Y340*	NM_000313.3	NP_000304.2	1	2	3	1.966254	P07225	PROS_HUMAN		10	1336	-			A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	0	1	hg19	c.1020C>G	CCDS2923.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.885622	0.97068	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	4.47	2.05	0.26809	4.47	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4211	0.27073	0.7526:0.0:0.2474:0.0	.	.	.	.	X	340;209	.	ENSP00000377783:Y340X	Y	-	3	2	2	PROS1	95094602	95094602	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	0.858000	0.27845	0.263000	0.21812	-0.324000	0.08512	TAC	0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.393	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	1	0	1	2	2	2	2	0	0	0	0	46	46	46	46	1	2.080000	-20.000000	1	0.680000	NM_000313		0	60	59	0	113	110	1		1	1		0	0	46	0	0	1	9.999993e-01	0	2	0	44	0	60	113
OR5H1	26341	broad.mit.edu	37	3	97852022	97852022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97852022G>T	ENST00000354565.2	+	1	481	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AATCCATGAAGGATTTTTATT	0.358																																						ENST00000354565.2	0.360000	1.900000e-01	0.320000	2.200000e-01	0.270000	0.276802	0.270000	0.270000																										0				34						c.(481-483)Gga>Tga		olfactory receptor, family 5, subfamily H, member 1							32.0	43.0	40.0					3																	97852022		2182	4276	6458	SO:0001587	stop_gained	26341	0	0					g.chr3:97852022G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.481G>T	chr3.hg19:g.97852022G>T	ENSP00000346575:p.Gly161*	0					RP11-343D2.11_ENST00000508964.1_RNA	p.G161*	NM_001005338.1	NP_001005338.1	1	2	3	1.966254	A6NKK0	OR5H1_HUMAN		1	481	+				Nonsense_Mutation	SNP	ENST00000354565.2	0	1	hg19	c.481G>T	CCDS33797.1	0	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644345	0.14451	.	.	ENSG00000231192	ENST00000354565	.	.	.	3.57	2.68	0.31781	3.57	2.68	0.31781	.	0.626401	0.13894	N	0.355411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.4928	0.33110	0.121:0.0:0.879:0.0	.	.	.	.	X	161	.	ENSP00000346575:G161X	G	+	1	0	0	OR5H1	99334712	99334712	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.384000	0.07389	0.683000	0.31428	0.195000	0.17529	GGA	0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.358	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	0	0	1	2	2	2	2	0	0	0	0	177	177	177	227	1	2.080000	-3.318794	1	0.680000	NM_001005338		0	39	30	0	385	332	0		1			0	0	177	0	0	1	0	0	0	0	0	0	39	385
OR5H14	403273	broad.mit.edu	37	3	97868710	97868710	+	Nonsense_Mutation	SNP	G	G	T	rs547429427	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97868710G>T	ENST00000437310.1	+	1	541	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATCCATGAAGGATTTTTATT	0.353																																						ENST00000437310.1	0.070000	0	0.050000	1.000000e-02	0.030000	0.035617	0.030000	0.040000																										0				31						c.(481-483)Gga>Tga		olfactory receptor, family 5, subfamily H, member 14							103.0	105.0	104.0					3																	97868710		2202	4300	6502	SO:0001587	stop_gained	403273	0	0					g.chr3:97868710G>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.481G>T	chr3.hg19:g.97868710G>T	ENSP00000401706:p.Gly161*	0					RP11-343D2.11_ENST00000508964.1_RNA	p.G161*	NM_001005514.1	NP_001005514.1	1	2	3	1.966254	A6NHG9	O5H14_HUMAN		1	541	+			B9EH15	Nonsense_Mutation	SNP	ENST00000437310.1	0	1	hg19	c.481G>T	CCDS33798.1	0	.	.	.	.	.	.	.	.	.	.	g	10.51	1.369165	0.24771	.	.	ENSG00000236032	ENST00000437310	.	.	.	2.49	-4.97	0.03029	2.49	-4.97	0.03029	.	0.899723	0.09201	N	0.834639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	1.2356	0.01952	0.3199:0.1452:0.3874:0.1475	.	.	.	.	X	161	.	ENSP00000401706:G161X	G	+	1	0	0	OR5H14	99351400	99351400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.434000	0.01021	-1.909000	0.01085	-1.051000	0.02340	GGA	0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.353	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1	0	0	1	2	2	2	2	0	0	0	0	260	260	260	260	1	2.080000	-2.213149	0	0.680000			0	9	9	0	814	799	0		1			0	0	260	0	0	9.937334e-01	0	0	0	0	0	0	9	814
MED12L	116931	broad.mit.edu	37	3	151075109	151075109	+	Missense_Mutation	SNP	C	C	T	rs374174117		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:151075109C>T	ENST00000474524.1	+	18	2703	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.R749C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	889						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTCTCAGGCGCTATCACAG	0.453																																						ENST00000474524.1	1.000000	8.100000e-01	1.000000	8.700000e-01	0.940000	0.938448	0.940000	1.000000																										0				128						c.(2665-2667)Cgc>Tgc		mediator complex subunit 12-like		C	CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	128.0	109.0	116.0		2665,	4.4	0.9	3		116	0,8600		0,0,4300	no	missense,intron	P2RY12,MED12L	NM_053002.4,NM_022788.3	180,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	889/2146,	151075109	1,13005	2203	4300	6503	SO:0001583	missense	116931	1	121412	36				g.chr3:151075109C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2665C>T	chr3.hg19:g.151075109C>T	ENSP00000417235:p.Arg889Cys	0					MED12L_ENST00000273432.4_Missense_Mutation_p.R749C|P2RY12_ENST00000302632.3_Intron	p.R889C	NM_053002.4	NP_443728.3	1	2	3	1.966254	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	18	2703	+			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	1	1	hg19	c.2665C>T	CCDS33876.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953030	0.73902	2.27E-4	0.0	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79454	-1.27;-1.27	5.3	4.42	0.53409	5.3	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.72982	0.979;0.616;0.635	D	0.86975	0.2100	10	0.72032	D	0.01	-26.0088	15.3411	0.74296	0.141:0.859:0.0:0.0	.	749;889;889	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	C	889;749	ENSP00000417235:R889C;ENSP00000273432:R749C	ENSP00000273432:R749C	R	+	1	0	0	MED12L	152557799	152557799	1.000000	0.71417	0.866000	0.34008	0.957000	0.61999	2.622000	0.46427	1.336000	0.45506	-0.169000	0.13324	CGC	0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.453	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1	2	2	2	2	0	0	0	0	88	88	88	88	1	2.080000	-20.000000	1	0.680000	NM_053002		0	145	145	0	308	303	1		1			0	0	88	0	0	1	0	0	0	0	0	0	145	308
KCTD8	386617	broad.mit.edu	37	4	44177058	44177058	+	Missense_Mutation	SNP	G	G	A	rs549391615		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:44177058G>A	ENST00000360029.3	-	2	1454	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507										HNSCC(17;0.042)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		16662	0.0		0.0	False		,,,				2504	0.0					ENST00000360029.3	0.080000	0	0.060000	1.000000e-02	0.030000	0.039083	0.030000	0.040000																										0				41						c.(1171-1173)Cgc>Tgc		potassium channel tetramerization domain containing 8							165.0	164.0	164.0					4																	44177058		2203	4300	6503	SO:0001583	missense	386617	4	121412	40				g.chr4:44177058G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1171C>T	chr4.hg19:g.44177058G>A	ENSP00000353129:p.Arg391Cys	0	HNSCC(17;0.042)					p.R391C	NM_198353.2	NP_938167.1	1	2	3	1.968126	Q6ZWB6	KCTD8_HUMAN		2	1454	-			A2RU39	Missense_Mutation	SNP	ENST00000360029.3	0	1	hg19	c.1171C>T	CCDS3467.1	0	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768485	0.31320	.	.	ENSG00000183783	ENST00000360029	T	0.44083	0.93	4.56	3.68	0.42216	4.56	3.68	0.42216	.	0.000000	0.46758	D	0.000275	T	0.50939	0.1645	L	0.36672	1.1	0.49582	D	0.999805	D	0.89917	1.0	D	0.64595	0.927	T	0.54655	-0.8261	10	0.87932	D	0	.	12.9862	0.58594	0.0:0.0:0.8317:0.1682	.	391	Q6ZWB6	KCTD8_HUMAN	C	391	ENSP00000353129:R391C	ENSP00000353129:R391C	R	-	1	0	0	KCTD8	43871815	43871815	1.000000	0.71417	0.995000	0.50966	0.196000	0.23810	3.014000	0.49590	1.202000	0.43218	0.650000	0.86243	CGC	0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	0	0	1	2	2	2	2	0	0	0	0	162	162	162	159	1	2.080000	-2.390467	0	0.680000			0	6	6	0	515	506	0		1			0	0	162	0	0	9.632236e-01	0	0	0	0	0	0	6	515
PCDHB7	56129	broad.mit.edu	37	5	140553979	140553979	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140553979C>T	ENST00000231137.3	+	1	1737	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGACTACGAGGCCCTGC	0.711																																						ENST00000231137.3	1.000000	2.300000e-01	0.380000	2.700000e-01	0.320000	0.346475	0.320000	0.320000																										0				119						c.(1561-1563)taC>taT		protocadherin beta 7							73.0	78.0	76.0					5																	140553979		2203	4300	6503	SO:0001819	synonymous_variant	56129	1	121412	34				g.chr5:140553979C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1563C>T	chr5.hg19:g.140553979C>T		0						p.Y521Y	NM_018940.2	NP_061763.1	1	2	3	1.999080	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1737	+			A1L3Y8	Silent	SNP	ENST00000231137.3	1	1	hg19	c.1563C>T	CCDS4249.1	0																																																																																								0.684294		TCGA-S4-A8RO-01A-12D-A377-08	0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	1	2	2	2	2	0	0	0	0	91	91	91	90	1	2.080000	-16.516610	1	0.680000	NM_018940		0	47	44	0	388	373	1		1	0		0	0	91	0	0	1	1.346715e-01	0	0	0	6	0	47	388
IRX2	153572	broad.mit.edu	37	5	2749835	2749835	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:2749835C>T	ENST00000382611.6	-	2	564	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	106					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGCCGCGCTGCCGTAC	0.662																																						ENST00000382611.6	1.000000	8.400000e-01	1.000000	9.300000e-01	0.990000	0.975774	0.990000	1.000000																										0				26						c.(316-318)Gcg>Acg		iroquois homeobox 2							75.0	69.0	71.0					5																	2749835		2203	4299	6502	SO:0001583	missense	153572	0	0					g.chr5:2749835C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.316G>A	chr5.hg19:g.2749835C>T	ENSP00000372056:p.Ala106Thr	0					C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	p.A106T	NM_001134222.1	NP_001127694.1	1	2	3	1.969744	Q9BZI1	IRX2_HUMAN		2	564	-			Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	1	1	hg19	c.316G>A	CCDS3868.1	1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467539	0.63625	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.66280	-0.2;-0.2;-0.15	4.85	3.96	0.45880	4.85	3.96	0.45880	Homeodomain-like (1);	0.108027	0.64402	D	0.000004	T	0.40448	0.1117	N	0.17474	0.49	0.42845	D	0.994069	B	0.32382	0.368	B	0.20184	0.028	T	0.35968	-0.9767	10	0.21540	T	0.41	-22.7679	13.2911	0.60272	0.0:0.7288:0.2712:0.0	.	106	Q9BZI1	IRX2_HUMAN	T	106;106;13	ENSP00000372056:A106T;ENSP00000307006:A106T;ENSP00000426151:A13T	ENSP00000307006:A106T	A	-	1	0	0	IRX2	2802835	2802835	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.500000	0.60387	2.239000	0.73571	0.655000	0.94253	GCG	0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.662	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	1	2	2	2	2	0	0	0	0	52	52	52	52	1	2.080000	-20.000000	1	0.680000			0	85	83	0	160	159	1		1	0		0	0	52	0	0	1	2.800953e-01	0	0	0	3	0	85	160
AP3B1	8546	broad.mit.edu	37	5	77436974	77436974	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:77436974G>C	ENST00000255194.6	-	15	1818	c.1643C>G	c.(1642-1644)tCc>tGc	p.S548C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	548					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACCTGTTTGGAGTTGGTTAA	0.408									Hermansky-Pudlak syndrome																													ENST00000255194.6	0.960000	6.600000e-01	0.890000	7.300000e-01	0.800000	0.813388	0.800000	0.810000																										0				39						c.(1642-1644)tCc>tGc		adaptor-related protein complex 3, beta 1 subunit							124.0	133.0	130.0					5																	77436974		2203	4300	6503	SO:0001583	missense	8546	1	121410	35	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	g.chr5:77436974G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1643C>G	chr5.hg19:g.77436974G>C	ENSP00000255194:p.Ser548Cys	0					AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	p.S548C	NM_001271769.1	NP_001258698.1	1	2	3	1.969744	O00203	AP3B1_HUMAN		15	1818	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	1	1	hg19	c.1643C>G	CCDS4041.1	0	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686301	0.88639	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.14266	2.52;2.52	5.63	5.63	0.86233	5.63	5.63	0.86233	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.29579	-1.0007	10	0.87932	D	0	-8.1557	19.6633	0.95882	0.0:0.0:1.0:0.0	.	548	O00203	AP3B1_HUMAN	C	548;499;548;452	ENSP00000255194:S548C;ENSP00000430597:S499C	ENSP00000255194:S548C	S	-	2	0	0	AP3B1	77472730	77472730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.638000	0.89438	0.655000	0.94253	TCC	0.681084		TCGA-S4-A8RO-01A-12D-A377-08	0.408	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	1	0	1	2	2	2	2	0	0	0	0	93	93	93	91	1	2.080000	-6.497701	1	0.680000			0	89	89	0	235	232	1		1	1		0	0	93	0	0	1	9.997728e-01	0	15	0	21	0	89	235
PCDH1	5097	broad.mit.edu	37	5	141248263	141248263	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:141248263G>A	ENST00000394536.3	-	2	913	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PCDH1_ENST00000287008.3_Silent_p.P258P|PCDH1_ENST00000536585.1_Silent_p.P236P|PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000456271.1_Silent_p.P246P	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	258	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCGCGTGGGGGGCTGCCGC	0.607																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000394536.3	1.000000	7.100000e-01	1.000000	8.200000e-01	0.930000	0.918823	0.930000	1.000000																										0				51						c.(772-774)ccC>ccT		protocadherin 1							62.0	56.0	58.0					5																	141248263		2203	4300	6503	SO:0001819	synonymous_variant	5097	0	0					g.chr5:141248263G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.774C>T	chr5.hg19:g.141248263G>A		0					PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000287008.3_Silent_p.P258P|PCDH1_ENST00000536585.1_Silent_p.P236P	p.P258P	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	1	2	3	1.999080	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	2	913	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Q8IUP2	Silent	SNP	ENST00000394536.3	1	1	hg19	c.774C>T	CCDS43375.1	1																																																																																								0.684294		TCGA-S4-A8RO-01A-12D-A377-08	0.607	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	1	0	1	2	2	2	2	0	0	0	0	41	41	41	40	1	2.080000	-6.450983	1	0.680000	NM_032420		0	46	45	0	101	100	1		1	1		0	0	41	0	0	1	9.999999e-01	0	24	0	37	0	46	101
SYCP2L	221711	broad.mit.edu	37	6	10894138	10894138	+	Silent	SNP	A	A	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:10894138A>T	ENST00000283141.6	+	3	413	c.117A>T	c.(115-117)ggA>ggT	p.G39G	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATGATAAAGGATTTCAGAAAA	0.299																																						ENST00000283141.6	1.000000	9.200000e-01	1.000000	9.900000e-01	0.990000	0.995110	0.990000	1.000000																										0				36						c.(115-117)ggA>ggT		synaptonemal complex protein 2-like							34.0	33.0	33.0					6																	10894138		1798	4060	5858	SO:0001819	synonymous_variant	221711	0	0					g.chr6:10894138A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.117A>T	chr6.hg19:g.10894138A>T		0					SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	p.G39G	NM_001040274.2	NP_001035364.2	1	2	3	2.028779	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)	3	413	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	1	1	hg19	c.117A>T	CCDS43423.1	1																																																																																								0.686397		TCGA-S4-A8RO-01A-12D-A377-08	0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	1	0	1	2	2	2	2	0	0	0	0	56	56	56	54	1	2.080000	-20.000000	1	0.680000	NM_194299		0	47	47	0	73	72	1		1			0	0	56	0	0	1	0	0	0	0	0	0	47	73
IGF2R	3482	broad.mit.edu	37	6	160465585	160465585	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:160465585C>T	ENST00000356956.1	+	13	1809	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	554					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTATTTCCTCTCCCATGAAA	0.348																																						ENST00000356956.1	1.000000	3.000000e-02	0.140000	5.000000e-02	0.080000	0.121988	0.080000	0.080000																										0				95						c.(1660-1662)tCt>tTt		insulin-like growth factor 2 receptor	Mecasermin(DB01277)						40.0	41.0	41.0					6																	160465585		2203	4300	6503	SO:0001583	missense	3482	0	0					g.chr6:160465585C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1661C>T	chr6.hg19:g.160465585C>T	ENSP00000349437:p.Ser554Phe	0						p.S554F	NM_000876.2	NP_000867	1	2	3	1.997743	P11717	MPRI_HUMAN		13	1809	+		Breast(66;0.000777)|Ovarian(120;0.0305)	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	0	1	hg19	c.1661C>T	CCDS5273.1	0	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706258	0.68615	.	.	ENSG00000197081	ENST00000356956	T	0.02656	4.21	5.91	5.91	0.95273	5.91	5.91	0.95273	Mannose-6-phosphate receptor, binding (1);	0.210963	0.51477	D	0.000082	T	0.12008	0.0292	M	0.82517	2.595	0.53688	D	0.999974	D	0.58620	0.983	P	0.62649	0.905	T	0.00583	-1.1659	10	0.66056	D	0.02	-9.3461	20.2985	0.98592	0.0:1.0:0.0:0.0	.	554	P11717	MPRI_HUMAN	F	554	ENSP00000349437:S554F	ENSP00000349437:S554F	S	+	2	0	0	IGF2R	160385575	160385575	1.000000	0.71417	0.927000	0.36925	0.330000	0.28571	5.766000	0.68843	2.793000	0.96121	0.655000	0.94253	TCT	0.684294		TCGA-S4-A8RO-01A-12D-A377-08	0.348	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	0	1	2	2	2	2	0	0	0	0	61	61	61	59	1	2.080000	-3.645305	1	0.680000	NM_000876		0	6	6	0	209	207	0		1	0		0	0	61	0	0	9.645928e-01	1.624572e-01	0	1	0	21	0	6	209
RBM24	221662	broad.mit.edu	37	6	17283114	17283114	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:17283114G>A	ENST00000379052.5	+	2	483	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RBM24_ENST00000318204.5_Missense_Mutation_p.V38M|RBM24_ENST00000425446.2_Missense_Mutation_p.V25M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	83	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AAAGGCCAACGTGAACCTGGC	0.537																																						ENST00000379052.5	1.000000	2.100000e-01	0.430000	2.700000e-01	0.340000	0.376748	0.340000	0.330000																										0				13						c.(247-249)Gtg>Atg		RNA binding motif protein 24							125.0	95.0	105.0					6																	17283114		2203	4300	6503	SO:0001583	missense	221662	0	0					g.chr6:17283114G>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.247G>A	chr6.hg19:g.17283114G>A	ENSP00000368341:p.Val83Met	0					RBM24_ENST00000318204.5_Missense_Mutation_p.V38M|RBM24_ENST00000425446.2_Missense_Mutation_p.V25M	p.V83M	NM_001143942.1	NP_001137414.1	1	2	3	2.028779	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)	2	483	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	0	1	hg19	c.247G>A	CCDS47378.1	0	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889107	0.91814	.	.	ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204	T;D;T;T	0.84298	2.72;-1.83;1.47;2.72	4.8	4.8	0.61643	4.8	4.8	0.61643	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.135582	0.48767	D	0.000169	D	0.93936	0.8059	H	0.95437	3.67	0.80722	D	1	D;P;P	0.65815	0.995;0.652;0.652	D;P;P	0.66084	0.941;0.459;0.459	D	0.95757	0.8797	10	0.87932	D	0	-12.3307	17.9074	0.88923	0.0:0.0:1.0:0.0	.	38;83;83	Q9BX46-2;Q9BX46;A8KAI7	.;RBM24_HUMAN;.	M	83;42;25;38	ENSP00000368341:V83M;ENSP00000426222:V42M;ENSP00000396898:V25M;ENSP00000319551:V38M	ENSP00000319551:V38M	V	+	1	0	0	RBM24	17391093	17391093	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.547000	0.98100	2.222000	0.72286	0.650000	0.86243	GTG	0.686397		TCGA-S4-A8RO-01A-12D-A377-08	0.537	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	1	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	2.080000	-20.000000	1	0.680000	NM_153020		0	19	19	0	152	152	1		1			0	0	25	0	0	9.999935e-01	0	0	0	0	0	0	19	152
RGL2	5863	broad.mit.edu	37	6	33263940	33263940	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:33263940G>A	ENST00000497454.1	-	6	1128	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.L129L|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	211	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCGGGACCGGAGATTGCGGA	0.662																																						ENST00000497454.1	1.000000	0	0.050000	1.000000e-02	0.020000	0.076529	0.020000	0.020000																										0				34						c.(631-633)ctC>ctT		ral guanine nucleotide dissociation stimulator-like 2							82.0	97.0	92.0					6																	33263940		2203	4300	6503	SO:0001819	synonymous_variant	5863	0	0					g.chr6:33263940G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.633C>T	chr6.hg19:g.33263940G>A		0					RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Silent_p.L129L	p.L211L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	1	2	3	2.028779	O15211	RGL2_HUMAN		6	1128	-			B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	0	1	hg19	c.633C>T	CCDS4774.1	0																																																																																								0.686397		TCGA-S4-A8RO-01A-12D-A377-08	0.662	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2	0	0	1	2	2	2	2	0	0	0	0	113	113	113	112	1	2.080000	-2.576665	1	0.680000			0	6	6	0	646	633	0		1	0		0	0	113	0	0	9.628481e-01	1.088041e-01	0	0	0	51	0	6	646
DAAM2	23500	broad.mit.edu	37	6	39845988	39845988	+	Silent	SNP	C	C	T	rs376008956		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:39845988C>T	ENST00000398904.2	+	12	1493	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000538976.1_Silent_p.N437N			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	437					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCTCATCAACGAGAATGAAG	0.547																																						ENST00000398904.2	1.000000	6.900000e-01	1.000000	7.800000e-01	0.880000	0.885767	0.880000	1.000000																										0				49						c.(1309-1311)aaC>aaT		dishevelled associated activator of morphogenesis 2		T	,	0,4166		0,0,2083	75.0	83.0	80.0		1311,1311	-1.8	1.0	6		80	1,8429		0,1,4214	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,1,6297	TT,TC,CC		0.0119,0.0,0.0079	,	437/1069,437/1068	39845988	1,12595	2083	4215	6298	SO:0001819	synonymous_variant	23500	1	121022	34				g.chr6:39845988C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1311C>T	chr6.hg19:g.39845988C>T		0					DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000538976.1_Silent_p.N437N	p.N437N			1	2	3	1.997743	Q86T65	DAAM2_HUMAN		12	1493	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	1	1	hg19	c.1311C>T	CCDS56426.1	1																																																																																								0.684294		TCGA-S4-A8RO-01A-12D-A377-08	0.547	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	2.080000	-20.000000	1	0.680000			0	52	52	0	123	122	1		1	0		0	0	32	0	0	1	7.960949e-01	0	0	0	9	0	52	123
GTPBP2	54676	broad.mit.edu	37	6	43593543	43593543	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:43593543G>A	ENST00000307126.5	-	4	456	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATCTTCCGGGGCATGTCGCTA	0.552																																					GBM(116;405 1620 28302 32150 44768)	ENST00000307126.5	1.000000	0	0.070000	2.000000e-02	0.040000	0.076536	0.040000	0.040000																										0				18						c.(457-459)Ccc>Tcc		GTP binding protein 2							268.0	213.0	231.0					6																	43593543		2203	4300	6503	SO:0001583	missense	54676	1	121412	31				g.chr6:43593543G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.457C>T	chr6.hg19:g.43593543G>A	ENSP00000303997:p.Pro153Ser	0					GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S	p.P153S	NM_019096.3	NP_061969.3	1	2	3	1.997743			all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)	4	456	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)			Missense_Mutation	SNP	ENST00000307126.5	0	1	hg19	c.457C>T	CCDS4903.1	0	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400940	0.25291	.	.	ENSG00000172432	ENST00000307126;ENST00000307114;ENST00000452781	T;T;T	0.42513	1.56;1.59;0.97	4.78	4.78	0.61160	4.78	4.78	0.61160	.	0.114076	0.64402	D	0.000013	T	0.11965	0.0291	N	0.05574	-0.02	0.50467	D	0.999875	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.09164	-1.0687	10	0.12766	T	0.61	-15.4253	17.9977	0.89189	0.0:0.0:1.0:0.0	.	145;153	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	S	153;65;145	ENSP00000303997:P153S;ENSP00000304893:P65S;ENSP00000410676:P145S	ENSP00000304893:P65S	P	-	1	0	0	GTPBP2	43701521	43701521	1.000000	0.71417	0.980000	0.43619	0.797000	0.45037	4.912000	0.63335	2.480000	0.83734	0.561000	0.74099	CCC	0.684294		TCGA-S4-A8RO-01A-12D-A377-08	0.552	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1	0	0	1	2	2	2	2	0	0	0	0	72	72	72	71	1	2.080000	-2.179393	0	0.680000			0	5	5	0	355	352	0		1	0		0	0	72	0	0	9.365796e-01	2.620823e-01	0	0	0	60	0	5	355
C6orf118	168090	broad.mit.edu	37	6	165715133	165715133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:165715133G>A	ENST00000230301.8	-	2	698	c.678C>T	c.(676-678)ctC>ctT	p.L226L	C6orf118_ENST00000543069.1_Silent_p.L122L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	226										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGCTTGGCGAGCACTTCCT	0.622																																						ENST00000230301.8	1.000000	6.600000e-01	0.920000	7.400000e-01	0.820000	0.832202	0.820000	0.820000																										0				40						c.(676-678)ctC>ctT		chromosome 6 open reading frame 118							75.0	74.0	74.0					6																	165715133		2203	4300	6503	SO:0001819	synonymous_variant	168090	0	0					g.chr6:165715133G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.678C>T	chr6.hg19:g.165715133G>A		0					C6orf118_ENST00000543069.1_Silent_p.L122L	p.L226L	NM_144980.3	NP_659417.2	1	2	3	1.997743	Q5T5N4	CF118_HUMAN		2	698	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	Q8TC11	Silent	SNP	ENST00000230301.8	1	1	hg19	c.678C>T	CCDS5288.1	0																																																																																								0.684294		TCGA-S4-A8RO-01A-12D-A377-08	0.622	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	1	0	1	2	2	2	2	0	0	0	0	53	53	53	53	1	2.080000	-6.139397	1	0.680000	NM_144980		0	73	73	0	191	190	1		1			0	0	53	0	0	1	0	0	0	0	0	0	73	191
RAMP3	10268	broad.mit.edu	37	7	45222846	45222846	+	Silent	SNP	C	C	T	rs138821752		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:45222846C>T	ENST00000242249.4	+	3	320	c.282C>T	c.(280-282)acC>acT	p.T94T	RAMP3_ENST00000481345.1_Silent_p.T94T|RAMP3_ENST00000496212.1_Silent_p.T94T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	94					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCTTCATCACCGGCATCCACA	0.592																																						ENST00000242249.4	1.000000	8.600000e-01	1.000000	9.300000e-01	0.990000	0.977301	0.990000	1.000000																										0				11						c.(280-282)acC>acT		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)	C		1,4405	2.1+/-5.4	0,1,2202	82.0	82.0	82.0		282	-8.7	0.0	7	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RAMP3	NM_005856.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		94/149	45222846	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10268	36	121412	48				g.chr7:45222846C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.282C>T	chr7.hg19:g.45222846C>T		0					RAMP3_ENST00000481345.1_Silent_p.T94T|RAMP3_ENST00000496212.1_Silent_p.T94T	p.T94T	NM_005856.2	NP_005847.1	1	2	3	2.042212	O60896	RAMP3_HUMAN		3	320	+			Q7Z2Y1	Silent	SNP	ENST00000242249.4	1	1	hg19	c.282C>T	CCDS5503.1	1																																																																																								0.687439		TCGA-S4-A8RO-01A-12D-A377-08	0.592	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	1	0	1	2	2	2	2	0	0	0	0	85	85	85	85	1	2.080000	-11.636590	1	0.680000	NM_005856		0	116	115	0	229	225	1		1	0		0	0	85	0	0	1	1	0	0	0	80	0	116	229
LOXL2	4017	broad.mit.edu	37	8	23155589	23155589	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:23155589G>A	ENST00000389131.3	-	14	2661	c.2292C>T	c.(2290-2292)agC>agT	p.S764S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	764					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTAAGAGCCCGCTGAAGTGCT	0.532																																						ENST00000389131.3	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	0.999917	0.990000	1.000000																										0				35						c.(2290-2292)agC>agT		lysyl oxidase-like 2							82.0	78.0	79.0					8																	23155589		2203	4300	6503	SO:0001819	synonymous_variant	4017	1	121412	35				g.chr8:23155589G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2292C>T	chr8.hg19:g.23155589G>A		1						p.S764S	NM_002318.2	NP_002309.1	1	3	4	2.732590	Q9Y4K0	LOXL2_HUMAN		14	2661	-		Prostate(55;0.0453)|Breast(100;0.143)	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	1	1	hg19	c.2292C>T	CCDS34864.1	1																																																																																								0.768250		TCGA-S4-A8RO-01A-12D-A377-08	0.532	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	1	0	1	2	2	2	2	0	0	0	0	23	23	23	23	1	2.080000	-20.000000	1	0.680000			0	61	61	0	120	118	1		1	0		0	0	23	0	0	1	1	0	1	0	140	0	61	120
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5	1.000000	0	0.100000	2.000000e-02	0.050000	0.123574	0.050000	0.050000																										0				14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109.0	103.0	105.0					8																	126030321		1828	4076	5904	SO:0001583	missense	6713	3	120800	34				g.chr8:126030321G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	chr8.hg19:g.126030321G>A	ENSP00000265896:p.Ala409Thr	1					SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	2	2	4	3.161472	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)	8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	0	1	hg19	c.1225G>A	CCDS47918.1	0	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	0	SQLE	126099503	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA	0.803150		TCGA-S4-A8RO-01A-12D-A377-08	0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	0	0	1	2	2	2	2	0	0	0	0	73	73	73	73	1	2.080000	-2.534913	1	0.680000	NM_003129		0	5	5	0	436	432	0		1	0		0	0	73	0	0	9.363703e-01	7.877531e-01	0	0	0	251	0	5	436
OR13C3	138803	broad.mit.edu	37	9	107298219	107298219	+	Silent	SNP	C	C	T	rs145221004	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													c|||	8	0.00159744	0.0	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.0082				GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2	1.000000	9.500000e-01	1.000000	9.900000e-01	0.990000	0.997045	0.990000	1.000000																										0				19						c.(874-876)ccG>ccA		olfactory receptor, family 13, subfamily C, member 3		C		0,4406		0,0,2203	142.0	134.0	137.0		876	-1.6	0.1	9	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR13C3	NM_001001961.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		292/348	107298219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	138803	114	121412	53				g.chr9:107298219C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.876G>A	chr9.hg19:g.107298219C>T		0						p.P292P	NM_001001961.1	NP_001001961.1	1	2	3	1.980807	Q8NGS6	O13C3_HUMAN		1	918	-			Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	1	1	hg19	c.876G>A	CCDS35089.1	1																																																																																								0.682161		TCGA-S4-A8RO-01A-12D-A377-08	0.438	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2	1	0	1	2	2	2	2	0	0	0	0	126	126	126	125	1	2.080000	-18.816990	1	0.680000			0	162	161	0	279	277	1		1			0	0	126	0	0	1	0	0	0	0	0	0	162	279
COL4A5	1287	broad.mit.edu	37	X	107909779	107909779	+	Missense_Mutation	SNP	G	G	A	rs104886237|rs104886238		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:107909779G>A	ENST00000361603.2	+	39	3752	c.3508G>A	c.(3508-3510)Ggt>Agt	p.G1170S	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1170S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1170	Triple-helical region.		G -> S (in APSX). {ECO:0000269|PubMed:10561141}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCAAACCCGGTCAAGATGG	0.443									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000361603.2	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	0.999274	0.990000	1.000000																										0				99	GRCh37	CM993122	COL4A5	M	rs104886237	c.(3508-3510)Ggt>Agt		collagen, type IV, alpha 5							67.0	59.0	62.0					X																	107909779		2203	4300	6503	SO:0001583	missense	1287	1	121274	31	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		g.chrX:107909779G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3508G>A	chrX.hg19:g.107909779G>A	ENSP00000354505:p.Gly1170Ser						COL4A5_ENST00000328300.6_Missense_Mutation_p.G1170S	p.G1170S	NM_000495.4	NP_000486.1	0	1	1		P29400	CO4A5_HUMAN		39	3752	+			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	1	0	hg19	c.3508G>A	CCDS14543.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146532	0.77888	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99329	-5.75;-5.75	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96983	0.9716	10	0.87932	D	0	.	18.4199	0.90587	0.0:0.0:1.0:0.0	.	1170;1170	E7EVY4;P29400	.;CO4A5_HUMAN	S	1170	ENSP00000331902:G1170S;ENSP00000354505:G1170S	ENSP00000331902:G1170S	G	+	1	0	0	COL4A5	107796435	107796435	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	8.265000	0.89869	2.290000	0.77057	0.600000	0.82982	GGT	0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.443	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2	1	0	0	2	2	2	2	0	0	0	0	18	18	18	18	1	2.080000	-11.387680	1	0.680000			0	46	44	0	58	58	1		1	0		0	0	18	0	0	1	9.248327e-01	0	0	0	8	0	46	58
DCX	1641	broad.mit.edu	37	X	110644391	110644391	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX). {ECO:0000269|PubMed:12390976}.|R -> L (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537																																						ENST00000338081.3	0.070000	0	0.060000	1.000000e-02	0.030000	0.038764	0.030000	0.040000																										2	Substitution - Missense(2)	p.R178C(1)|p.R259C(1)	kidney(2)	41	GRCh37	CM023910	DCX	M		c.(775-777)Cgc>Tgc		doublecortin							128.0	105.0	113.0					X																	110644391		2203	4300	6503	SO:0001583	missense	1641	0	0					g.chrX:110644391G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.775C>T	chrX.hg19:g.110644391G>A	ENSP00000337697:p.Arg259Cys						DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.R178C	p.R259C	NM_000555.3	NP_000546.2	0	1	1		O43602	DCX_HUMAN		3	946	-			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	0	1	hg19	c.775C>T	CCDS14556.1	0	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	0	DCX	110531047	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC	0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	0	0	1	2	17	2	2	1	1	1	1	95	95	95	94	1	2.080000	-2.153610	0	0.680000	NM_178153		0	5	5	0	442	440	0		0			1	0	95	0	0	7.473249e-03	0	0	0	0	0	0	5	442
BCORL1	63035	broad.mit.edu	37	X	129190051	129190051	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:129190051C>T	ENST00000218147.7	+	13	5273	c.5076C>T	c.(5074-5076)taC>taT	p.Y1692Y	BCORL1_ENST00000540052.1_Silent_p.Y1692Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1692					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGTGCGGTACGAGCCAGACC	0.607																																						ENST00000218147.7	1.000000	8.000000e-01	1.000000	8.700000e-01	0.950000	0.947312	0.950000	1.000000																										0				75						c.(5074-5076)taC>taT		BCL6 corepressor-like 1							39.0	38.0	38.0					X																	129190051		2203	4300	6503	SO:0001819	synonymous_variant	63035	6	121394	38				g.chrX:129190051C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5076C>T	chrX.hg19:g.129190051C>T							BCORL1_ENST00000359304.2_Silent_p.Y1562Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y|BCORL1_ENST00000540052.1_Silent_p.Y1692Y	p.Y1692Y			0	1	1		Q5H9F3	BCORL_HUMAN		13	5273	+			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	1	1	hg19	c.5076C>T	CCDS14616.1	1																																																																																								0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	1	0	1	2	2	2	2	0	0	0	0	73	73	73	71	1	2.080000	-20.000000	1	0.680000	NM_021946		0	95	92	0	195	185	0		1	0	1	0	0	73	1064	0	1	9.996660e-01	1	0	303	27	896	95	195
NAP1L2	4674	broad.mit.edu	37	X	72434324	72434324	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:72434324G>A	ENST00000373517.3	-	1	360	c.5C>T	c.(4-6)gCc>gTc	p.A2V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	2					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCTGACTCGGCCATTTTTCA	0.532																																						ENST00000373517.3	0.100000	1.000000e-02	0.080000	2.000000e-02	0.040000	0.057114	0.040000	0.050000																										0				29						c.(4-6)gCc>gTc		nucleosome assembly protein 1-like 2							46.0	53.0	51.0					X																	72434324		2139	4033	6172	SO:0001583	missense	4674	0	0					g.chrX:72434324G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.5C>T	chrX.hg19:g.72434324G>A	ENSP00000362616:p.Ala2Val						NAP1L2_ENST00000536638.1_Intron	p.A2V	NM_021963.3	NP_068798.1	0	1	1		Q9ULW6	NP1L2_HUMAN		1	360	-	Renal(35;0.156)		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	0	1	hg19	c.5C>T	CCDS14423.1	0	.	.	.	.	.	.	.	.	.	.	g	16.18	3.049801	0.55218	.	.	ENSG00000186462	ENST00000373517	T	0.37584	1.19	3.03	2.16	0.27623	3.03	2.16	0.27623	.	0.517494	0.18149	U	0.150154	T	0.20740	0.0499	N	0.19112	0.55	0.80722	D	1	B	0.19445	0.036	B	0.12837	0.008	T	0.06881	-1.0802	10	0.87932	D	0	-3.1541	5.4474	0.16544	0.1624:0.0:0.8376:0.0	.	2	Q9ULW6	NP1L2_HUMAN	V	2	ENSP00000362616:A2V	ENSP00000362616:A2V	A	-	2	0	0	NAP1L2	72351049	72351049	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.935000	0.48963	0.660000	0.30964	-0.208000	0.12717	GCC	0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.532	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	0	0	1	2	2	2	2	0	0	0	0	54	54	54	53	1	2.080000	-2.669227	1	0.680000	NM_021963		0	6	5	0	352	345	0		1	0		0	0	54	0	0	9.627839e-01	4.099149e-03	0	0	0	5	0	6	352
FAM133A	286499	broad.mit.edu	37	X	92964906	92964906	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:92964906C>G	ENST00000355813.5	+	4	1014	c.488C>G	c.(487-489)tCa>tGa	p.S163*	FAM133A_ENST00000538690.1_Nonsense_Mutation_p.S163*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	163	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAAGAAGTCAAAGGATGAA	0.363																																						ENST00000355813.5	0.820000	4.100000e-01	0.720000	5.000000e-01	0.600000	0.619281	0.600000	0.600000																										0				20						c.(487-489)tCa>tGa		family with sequence similarity 133, member A							25.0	22.0	23.0					X																	92964906		2200	4294	6494	SO:0001587	stop_gained	286499	0	0					g.chrX:92964906C>G	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.488C>G	chrX.hg19:g.92964906C>G	ENSP00000348067:p.Ser163*						FAM133A_ENST00000538690.1_Nonsense_Mutation_p.S163*|FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*	p.S163*	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	0	1	1		Q8N9E0	F133A_HUMAN		4	1014	+				Nonsense_Mutation	SNP	ENST00000355813.5	0	1	hg19	c.488C>G	CCDS14466.1	0	.	.	.	.	.	.	.	.	.	.	c	38	6.748977	0.97809	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	.	.	.	3.0	2.13	0.27403	3.0	2.13	0.27403	.	0.239763	0.36409	U	0.002607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.0917	5.3653	0.16111	0.0:0.8372:0.0:0.1628	.	.	.	.	X	163	.	ENSP00000318974:S163X	S	+	2	0	0	FAM133A	92851562	92851562	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.909000	0.28558	0.668000	0.31126	0.597000	0.82753	TCA	0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	1	0	1	2	2	2	2	0	0	0	0	48	48	48	47	1	2.080000	-20.000000	1	0.680000	NM_173698		0	25	25	0	96	95	1		1			0	0	48	0	0	9.999999e-01	0	0	0	0	0	0	25	96
GDI1	2664	broad.mit.edu	37	X	153670920	153670920	+	Silent	SNP	C	C	T	rs76578139		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:153670920C>T	ENST00000447750.2	+	11	1580	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	FAM50A_ENST00000393600.3_5'Flank|GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	415					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACCTGCAACGACATCAAAG	0.522													C|||	1	0.000264901	0.0	0.0	3775	,	,		15357	0.001		0.0	False		,,,				2504	0.0					ENST00000447750.2	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1243-1245)aaC>aaT		GDP dissociation inhibitor 1							173.0	134.0	147.0					X																	153670920		2203	4300	6503	SO:0001819	synonymous_variant	2664	4	121410	40				g.chrX:153670920C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1245C>T	chrX.hg19:g.153670920C>T							FAM50A_ENST00000393600.3_5'Flank|GDI1_ENST00000465640.1_3'UTR	p.N415N	NM_001493.2	NP_001484.1	0	1	1		P31150	GDIA_HUMAN		11	1580	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	1	1	hg19	c.1245C>T	CCDS35452.1	1																																																																																								0.680000		TCGA-S4-A8RO-01A-12D-A377-08	0.522	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	1	0	1	2	2	2	2	0	0	0	0	98	98	98	98	1	2.080000	-20.000000	1	0.680000	NM_001493		0	304	300	0	259	257	0		1	0		0	0	98	0	0	1	1	0	0	0	332	0	304	259
