#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
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.400000	1.000000	0.600000	0.900000	0.835757	0.900000	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	2.100239	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	0.127907		TCGA-2J-AAB9-01A-11D-A40W-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	1		2	2	2	0		0	0	59		59	57	1	2.020000	-4.033993	1	0.100000	NM_033360			8	8		204	202	0		1	0	1	0	0	59	297		0.989367	1.764996e-02	9.978920e-01	0	11	5	289	8	204
CINP	51550	broad.mit.edu	37	14	102815068	102815068	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:102815068C>T	ENST00000216756.6	-	5	505	c.465G>A	c.(463-465)atG>atA	p.M155I	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000536961.2_Missense_Mutation_p.M170I|CINP_ENST00000541568.2_Missense_Mutation_p.C112Y	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	155					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						CCTTCCTGTACATCTCCAAGA	0.527																																						ENST00000216756.6	1.000000	0.340000	1.000000	0.610000	0.990000	0.856403	0.990000	1.000000																										0				4						c.(463-465)atG>atA		cyclin-dependent kinase 2 interacting protein							68.0	47.0	54.0					14																	102815068		2203	4300	6503	SO:0001583	missense	51550	0	0					g.chr14:102815068C>T	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.465G>A	chr14.hg19:g.102815068C>T	ENSP00000216756:p.Met155Ile	0					CINP_ENST00000560326.1_5'Flank|CINP_ENST00000536961.2_Missense_Mutation_p.M170I|CINP_ENST00000541568.2_Missense_Mutation_p.C112Y	p.M155I	NM_032630.2	NP_116019.1	1	2	3	2.002445	Q9BW66	CINP_HUMAN		5	505	-			F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	0	1	hg19	c.465G>A	CCDS9972.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477860|3.477860	0.63849|0.63849	.|.	.|.	ENSG00000100865|ENSG00000100865	ENST00000541568|ENST00000216756;ENST00000536961	.|T;T	.|0.51817	.|0.72;0.69	6.07|6.07	5.17|5.17	0.71159|0.71159	6.07|6.07	5.17|5.17	0.71159|0.71159	.|.	.|0.256618	.|0.46442	.|D	.|0.000283	T|T	0.55909|0.55909	0.1950|0.1950	M|M	0.73598|0.73598	2.24|2.24	0.31559|0.31559	N|N	0.657829|0.657829	.|P	.|0.49559	.|0.925	.|P	.|0.46758	.|0.526	T|T	0.69026|0.69026	-0.5254|-0.5254	6|10	0.52906|0.66056	T|D	0.07|0.02	.|.	14.4832|14.4832	0.67597|0.67597	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|155	.|Q9BW66	.|CINP_HUMAN	Y|I	112|155;170	.|ENSP00000216756:M155I;ENSP00000442057:M170I	ENSP00000442377:C112Y|ENSP00000216756:M155I	C|M	-|-	2|3	0|0	0|0	CINP|CINP	101884821|101884821	101884821|101884821	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.436000|0.436000	0.31835|0.31835	1.313000|1.313000	0.33585|0.33585	1.549000|1.549000	0.49425|0.49425	0.655000|0.655000	0.94253|0.94253	TGT|ATG	0.106700		TCGA-2J-AAB9-01A-11D-A40W-08	0.527	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	0	0	1		2	2	2	0		0	0	25		25	25	1	2.020000	-7.715463	1	0.100000	NM_032630			4	4		84	82	1		1	1		0	0	25	0		0.886537	6.588245e-01	0	9	0	36	0	4	84
TEPP	374739	broad.mit.edu	37	16	58018681	58018681	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:58018681G>A	ENST00000441824.2	+	4	629	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000290871.5_Missense_Mutation_p.G198R	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	198						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GTCCTCGGCCGGGGAGTTCAA	0.682																																						ENST00000441824.2	1.000000	0.390000	1.000000	0.690000	0.990000	0.892126	0.990000	1.000000																										0				8						c.(592-594)Ggg>Agg		testis, prostate and placenta expressed							34.0	27.0	30.0					16																	58018681		2198	4299	6497	SO:0001583	missense	374739	1	121310	19				g.chr16:58018681G>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.592G>A	chr16.hg19:g.58018681G>A	ENSP00000401917:p.Gly198Arg	0					TEPP_ENST00000290871.5_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR	p.G198R	NM_199456.2	NP_955535.2	1	2	3	1.999303	Q6URK8	TEPP_HUMAN		4	629	+			Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	0	1	hg19	c.592G>A	CCDS45496.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006870	0.54361	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.59772	0.24;0.26	5.29	4.34	0.51931	5.29	4.34	0.51931	.	0.285249	0.29948	N	0.010788	T	0.59715	0.2214	M	0.81682	2.555	0.09310	N	1	D;D	0.56287	0.975;0.975	B;B	0.43386	0.418;0.418	T	0.60042	-0.7340	10	0.59425	D	0.04	8.7723	10.1043	0.42524	0.0933:0.0:0.9067:0.0	.	198;198	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	R	198	ENSP00000290871:G198R;ENSP00000401917:G198R	ENSP00000290871:G198R	G	+	1	0	0	TEPP	56576182	56576182	0.766000	0.28496	0.091000	0.20842	0.959000	0.62525	1.217000	0.32455	1.229000	0.43630	-0.149000	0.13747	GGG	0.105812		TCGA-2J-AAB9-01A-11D-A40W-08	0.682	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	1	0	1		2	2	2	0		0	0	10		10	10	1	2.020000	-3.179890	1	0.100000	NM_199456			4	4		72	71	0		1			0	0	10	0		0.889105	0	0	0	0	0	0	4	72
CNTNAP4	85445	broad.mit.edu	37	16	76486445	76486445	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:76486445C>T	ENST00000476707.1	+	7	1260	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P370L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	371					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAATCTATGCCCGTGACTTTT	0.393																																						ENST00000476707.1	1.000000	0.680000	1.000000	0.870000	0.990000	0.953544	0.990000	1.000000																										0				64						c.(1120-1122)cCc>cTc		contactin associated protein-like 4							97.0	96.0	96.0					16																	76486445		2198	4300	6498	SO:0001583	missense	85445	0	0					g.chr16:76486445C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1121C>T	chr16.hg19:g.76486445C>T	ENSP00000417628:p.Pro374Leu	0					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P370L	p.P374L			1	2	3	1.999303	Q9C0A0	CNTP4_HUMAN		7	1260	+			E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	1	1	hg19	c.1121C>T		1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161570	0.78226	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.52	5.52	0.82312	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.41294	D	0.000901	D	0.89192	0.6645	.	.	.	0.80722	D	1	D;D;P;D	0.89917	0.996;0.984;0.937;1.0	D;D;P;D	0.97110	0.977;0.909;0.533;1.0	D	0.89667	0.3881	9	0.87932	D	0	.	19.6434	0.95767	0.0:1.0:0.0:0.0	.	298;374;346;371	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	370;322;298;374	ENSP00000306893:P370L;ENSP00000439733:P322L;ENSP00000418741:P298L;ENSP00000417628:P374L	ENSP00000306893:P370L	P	+	2	0	0	CNTNAP4	75043946	75043946	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.376000	0.66178	2.880000	0.98712	0.655000	0.94253	CCC	0.105812		TCGA-2J-AAB9-01A-11D-A40W-08	0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	1	0	1		2	2	2	0		0	0	79		79	78	1	2.020000	-5.005502	1	0.100000	NM_033401			20	20		358	354	0		1			0	0	79	0		0.999995	0	0	0	0	0	0	20	358
EVI2A	2123	broad.mit.edu	37	17	29645681	29645681	+	Silent	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:29645681A>G	ENST00000462804.2	-	2	750	c.351T>C	c.(349-351)caT>caC	p.H117H	NF1_ENST00000581113.2_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_Silent_p.H140H|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.W57R|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Silent_p.H117H	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	117					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AAATTTCACCATGACTTTTGC	0.358																																						ENST00000462804.2	1.000000	0.910000	1.000000	0.990000	0.990000	0.995055	0.990000	1.000000																										11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	14						c.(349-351)caT>caC		ecotropic viral integration site 2A							138.0	140.0	139.0					17																	29645681		2203	4299	6502	SO:0001819	synonymous_variant	2123	1	121412	30				g.chr17:29645681A>G	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.351T>C	chr17.hg19:g.29645681A>G		0					EVI2A_ENST00000461237.1_Silent_p.H117H|NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000247270.3_Silent_p.H140H|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.W57R	p.H117H	NM_014210.3	NP_055025.2	1	2	3	2.076903	P22794	EVI2A_HUMAN		2	750	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	B2R5X2|B4DHX8	Silent	SNP	ENST00000462804.2	1	0	hg19	c.351T>C	CCDS42293.1	1																																																																																								0.122807		TCGA-2J-AAB9-01A-11D-A40W-08	0.358	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	1	0	1		2	2	2	0		0	0	123		123	122	1	2.020000	-7.648710	1	0.100000	NM_014210			33	32		501	496	0		1	0		0	0	123	0		1.000000	4.930097e-01	0	0	0	26	0	33	501
TP53	7157	broad.mit.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:7579377G>A	ENST00000269305.4	-	4	499	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*	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	104	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	TAGCTGCCCTGGTAGGTTTTC	0.632		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	0.780000	1.000000	0.940000	0.990000	0.975665	0.990000	1.000000		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		34	Substitution - Nonsense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Complex - compound substitution(1)	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|biliary_tract(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|liver(1)	24185						c.(310-312)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						54.0	54.0	54.0					17																	7579377		2203	4300	6503	SO:0001587	stop_gained	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7579377G>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.310C>T	chr17.hg19:g.7579377G>A	ENSP00000269305:p.Gln104*	0	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_Nonsense_Mutation_p.Q104*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*	p.Q104*	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	1.940295	P04637	P53_HUMAN		4	499	-		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	Nonsense_Mutation	SNP	ENST00000269305.4	0	1	hg19	c.310C>T	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460479	0.63401	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.378699	0.29424	N	0.012186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.2505	11.3383	0.49518	0.0:0.1837:0.8163:0.0	.	.	.	.	X	104	.	ENSP00000269305:Q104X	Q	-	1	0	0	TP53	7520102	7520102	1.000000	0.71417	0.643000	0.29450	0.384000	0.30261	1.618000	0.36954	2.630000	0.89119	0.655000	0.94253	CAG	0.064449		TCGA-2J-AAB9-01A-11D-A40W-08	0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	76		76	75	1	2.020000	-6.975264	1	0.100000	NM_000546			23	23		314	308	0		1	0	1	0	0	76	181		0.999999	5.288786e-01	9.997745e-01	1	9	24	174	23	314
KRT13	3860	broad.mit.edu	37	17	39658808	39658808	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:39658808G>A	ENST00000246635.3	-	6	1108	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Silent_p.C354C|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.C354C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	354	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGGCATAGCGGCACTCCGTCT	0.607																																						ENST00000246635.3	1.000000	0.090000	1.000000	0.160000	0.260000	0.427164	0.260000	0.210000																										0				33						c.(1060-1062)tgC>tgT		keratin 13							108.0	93.0	98.0					17																	39658808		2203	4300	6503	SO:0001819	synonymous_variant	3860	0	0					g.chr17:39658808G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1062C>T	chr17.hg19:g.39658808G>A		0					AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Silent_p.C354C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Silent_p.C354C	p.C354C	NM_153490.2	NP_705694	1	2	3	2.076903	P13646	K1C13_HUMAN		6	1108	-		Breast(137;0.000286)	Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	0	1	hg19	c.1062C>T	CCDS11396.1	0																																																																																								0.122807		TCGA-2J-AAB9-01A-11D-A40W-08	0.607	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	0	0	1		2	36	2	1		1	0	98		98	95	1	2.020000	-2.617260	1	0.100000	NM_153490			6	6		573	567	0		1	0		1	0	98	0		0.963981	6.599619e-03	0	0	0	1221	0	6	573
FHOD3	80206	broad.mit.edu	37	18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:34205579C>T	ENST00000359247.4	+	10	1063	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	FHOD3_ENST00000257209.4_Missense_Mutation_p.R355W|FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W|FHOD3_ENST00000591635.1_Silent_p.T29T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	355	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.R355W(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGCGAGCACCGGGGCCTGGA	0.697																																						ENST00000359247.4	1.000000	0.380000	0.940000	0.530000	0.720000	0.730714	0.720000	1.000000																										1	Substitution - Missense(1)	p.R355W(1)	large_intestine(1)	90						c.(1063-1065)Cgg>Tgg		formin homology 2 domain containing 3							44.0	49.0	47.0					18																	34205579		2203	4299	6502	SO:0001583	missense	80206	0	0					g.chr18:34205579C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1063C>T	chr18.hg19:g.34205579C>T	ENSP00000352186:p.Arg355Trp	0					FHOD3_ENST00000591635.1_Silent_p.T29T|FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W|FHOD3_ENST00000257209.4_Missense_Mutation_p.R355W	p.R355W	NM_001281739.1	NP_001268668.1	0	0	0	1.935203	Q2V2M9	FHOD3_HUMAN		10	1063	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	1	1	hg19	c.1063C>T		0	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056169	0.76074	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.35236	1.33;1.33;1.32	5.28	5.28	0.74379	5.28	5.28	0.74379	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.269957	0.36167	N	0.002746	T	0.44891	0.1315	L	0.58101	1.795	0.32709	N	0.51179	D;D;D;D	0.71674	0.986;0.994;0.994;0.998	P;P;P;P	0.51657	0.471;0.614;0.502;0.676	T	0.61554	-0.7039	10	0.87932	D	0	.	11.5603	0.50772	0.1781:0.8219:0.0:0.0	.	355;355;355;355	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	W	355	ENSP00000257209:R355W;ENSP00000352186:R355W;ENSP00000411430:R355W	ENSP00000257209:R355W	R	+	1	2	2	FHOD3	32459577	32459577	1.000000	0.71417	0.114000	0.21550	0.842000	0.47809	3.935000	0.56560	2.469000	0.83416	0.655000	0.94253	CGG	0.064449		TCGA-2J-AAB9-01A-11D-A40W-08	0.697	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1		2	2	2	0		0	0	57		57	56	1	2.020000	-3.398903	1	0.100000	XM_371114			11	11		279	272	0		1	0		0	0	57	0		0.998189	4.220521e-02	0	0	0	8	0	11	279
ACTL9	284382	broad.mit.edu	37	19	8808452	8808452	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:8808452G>A	ENST00000324436.3	-	1	720	c.600C>T	c.(598-600)caC>caT	p.H200H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	200						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGTGACCCCGTGTCCCGTGT	0.672																																						ENST00000324436.3	1.000000	0.820000	1.000000	0.990000	0.990000	0.987903	0.990000	1.000000																										0				36						c.(598-600)caC>caT		actin-like 9							47.0	44.0	45.0					19																	8808452		2203	4300	6503	SO:0001819	synonymous_variant	284382	0	0					g.chr19:8808452G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.600C>T	chr19.hg19:g.8808452G>A		0						p.H200H	NM_178525.3	NP_848620.3	1	2	3	1.999602	Q8TC94	ACTL9_HUMAN		1	720	-			A8K893|Q6X960	Silent	SNP	ENST00000324436.3	1	1	hg19	c.600C>T	CCDS12207.1	1																																																																																								0.105812		TCGA-2J-AAB9-01A-11D-A40W-08	0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1		2	2	2	0		0	0	45		45	43	1	2.020000	-19.998160	1	0.100000	NM_178525			19	19		275	270	0		1			0	0	45	0		0.999991	0	0	0	0	0	0	19	275
KLK15	55554	broad.mit.edu	37	19	51330383	51330383	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:51330383G>A	ENST00000598239.1	-	3	262	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KLK15_ENST00000326856.4_Missense_Mutation_p.R77C|KLK15_ENST00000596931.1_Missense_Mutation_p.R77C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C|KLK15_ENST00000301421.2_Missense_Mutation_p.R78C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	78	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCGCGCTTGCGCAGGTTGTGC	0.632																																					Pancreas(140;10 2513 7143 9246)	ENST00000598239.1	1.000000	0.160000	0.640000	0.250000	0.370000	0.453419	0.370000	0.320000																										0				24						c.(232-234)Cgc>Tgc		kallikrein-related peptidase 15							70.0	61.0	64.0					19																	51330383		2202	4298	6500	SO:0001583	missense	55554	0	0					g.chr19:51330383G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.232C>T	chr19.hg19:g.51330383G>A	ENSP00000469315:p.Arg78Cys	0					KLK15_ENST00000596931.1_Missense_Mutation_p.R77C|KLK15_ENST00000416184.1_Missense_Mutation_p.R78C|KLK15_ENST00000326856.4_Missense_Mutation_p.R77C|KLK15_ENST00000301421.2_Missense_Mutation_p.R78C	p.R78C	NM_017509.2	NP_059979.2	1	2	3	2.008441	Q9H2R5	KLK15_HUMAN		3	262	-		all_neural(266;0.057)	A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	0	1	hg19	c.232C>T	CCDS12805.1	0	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329160	0.60743	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89415	-2.51;-2.51	4.51	4.51	0.55191	4.51	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46442	D	0.000293	D	0.91778	0.7399	L	0.61218	1.895	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;P;D;P	0.65987	0.892;0.892;0.94;0.892	D	0.84525	0.0630	10	0.56958	D	0.05	.	10.1981	0.43067	0.0:0.0:0.8015:0.1985	.	78;77;78;78	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	78	ENSP00000415136:R78C;ENSP00000301421:R78C	ENSP00000301421:R78C	R	-	1	0	0	KLK15	56022195	56022195	0.000000	0.05858	0.999000	0.59377	0.951000	0.60555	0.118000	0.15605	2.519000	0.84933	0.561000	0.74099	CGC	0.108028		TCGA-2J-AAB9-01A-11D-A40W-08	0.632	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	0	0	1		2	2	2	0		0	0	106		106	102	1	2.020000	-6.712205	1	0.100000	NM_017509			8	9		479	471	0		1			0	0	106	0		0.988842	0	0	0	0	0	0	8	479
ATP8B2	57198	broad.mit.edu	37	1	154306722	154306722	+	Silent	SNP	C	C	T	rs201913757		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:154306722C>T	ENST00000368489.3	+	10	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000341822.2_Silent_p.F262F|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	262					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGGTGCTTCGGGCTGGTCA	0.542																																						ENST00000368489.3	1.000000	0.640000	1.000000	0.770000	0.920000	0.897092	0.920000	1.000000																									IL6R/ATP8B2(2)	0				51						c.(826-828)ttC>ttT		ATPase, aminophospholipid transporter, class I, type 8B, member 2							141.0	144.0	143.0					1																	154306722		2203	4300	6503	SO:0001819	synonymous_variant	57198	0	0					g.chr1:154306722C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.828C>T	chr1.hg19:g.154306722C>T		0					ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000341822.2_Silent_p.F262F|ATP8B2_ENST00000426445.1_3'UTR	p.F276F	NM_020452.3	NP_065185.1	1	2	3	1.999988	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	10	828	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	1	1	hg19	c.828C>T	CCDS1066.1	1																																																																																								0.106256		TCGA-2J-AAB9-01A-11D-A40W-08	0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	1	0	1		2	2	2	0		0	0	181		181	179	1	2.020000	-4.293961	1	0.100000	NM_020452			36	36		773	763	0		1	0		0	0	181	0		1.000000	6.185315e-03	0	0	0	3	0	36	773
USP24	23358	broad.mit.edu	37	1	55562215	55562215	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:55562215T>G	ENST00000294383.6	-	50	6016	c.6017A>C	c.(6016-6018)tAt>tCt	p.Y2006S	USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2006	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAAGCATTCATACTCCAGGGT	0.323																																						ENST00000294383.6	1.000000	0.280000	0.860000	0.430000	0.620000	0.645975	0.620000	1.000000																										0				60						c.(6016-6018)tAt>tCt		ubiquitin specific peptidase 24							101.0	91.0	94.0					1																	55562215		1808	4073	5881	SO:0001583	missense	23358	0	0					g.chr1:55562215T>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6017A>C	chr1.hg19:g.55562215T>G	ENSP00000294383:p.Tyr2006Ser	0					USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	p.Y2006S	NM_015306.2	NP_056121.2	0	0	0	1.936615	Q9UPU5	UBP24_HUMAN		50	6016	-			Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	1	1	hg19	c.6017A>C	CCDS44154.2	0	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861857	0.17178	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04454	3.62;3.62	6.06	4.87	0.63330	6.06	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.02230	0.0069	N	0.05124	-0.11	0.58432	D	0.999995	B	0.27013	0.166	B	0.21151	0.033	T	0.37526	-0.9702	10	0.02654	T	1	.	12.2795	0.54755	0.127:0.0:0.0:0.873	.	1846	B7WPF4	.	S	2006;1846	ENSP00000294383:Y2006S;ENSP00000385700:Y1846S	ENSP00000294383:Y2006S	Y	-	2	0	0	USP24	55334803	55334803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.868000	0.69605	2.324000	0.78689	0.533000	0.62120	TAT	0.065421		TCGA-2J-AAB9-01A-11D-A40W-08	0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	1		2	2	2	0		0	0	32		32	32	1	2.020000	-9.711997	1	0.100000				7	7		209	204	0		1	0		0	0	32	0		0.979458	2.002875e-02	0	0	0	6	0	7	209
PAQR6	79957	broad.mit.edu	37	1	156215369	156215369	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:156215369C>T	ENST00000292291.5	-	5	627	c.469G>A	c.(469-471)Gca>Aca	p.A157T	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.A51T|PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T|PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	157						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GAGTTGAGTGCGGCGGCAGGC	0.687																																					GBM(16;219 398 12385 32425 38531)	ENST00000292291.5	1.000000	0.170000	0.820000	0.290000	0.470000	0.535104	0.470000	0.410000																										0				5						c.(469-471)Gca>Aca		progestin and adipoQ receptor family member VI							31.0	35.0	34.0					1																	156215369		2201	4296	6497	SO:0001583	missense	79957	0	0					g.chr1:156215369C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.469G>A	chr1.hg19:g.156215369C>T	ENSP00000292291:p.Ala157Thr	0					PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.A51T|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T	p.A157T	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	1	2	3	1.999988	Q6TCH4	PAQR6_HUMAN		5	627	-	Hepatocellular(266;0.158)		B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	0	1	hg19	c.469G>A	CCDS1136.1	0	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630223	0.46944	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	4.2	3.26	0.37387	4.2	3.26	0.37387	.	.	.	.	.	T	0.21801	0.0525	L	0.61036	1.89	0.30241	N	0.795024	P;P;P	0.42584	0.784;0.744;0.784	B;B;B	0.41332	0.121;0.354;0.121	T	0.02942	-1.1091	9	0.33141	T	0.24	.	11.2653	0.49106	0.0:0.9047:0.0:0.0953	.	154;51;157	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	T	157;51;51;51;133;154	ENSP00000292291:A157T;ENSP00000353961:A51T;ENSP00000338330:A51T;ENSP00000349474:A51T;ENSP00000357253:A133T;ENSP00000443167:A154T	ENSP00000292291:A157T	A	-	1	0	0	PAQR6	154481993	154481993	0.456000	0.25744	0.999000	0.59377	0.785000	0.44390	1.863000	0.39459	2.146000	0.66826	0.462000	0.41574	GCA	0.106256		TCGA-2J-AAB9-01A-11D-A40W-08	0.687	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	0	0	1		2	2	2	0		0	0	43		43	41	1	2.020000	-2.807899	1	0.100000	NM_024897			5	5		237	235	0		1	0		0	0	43	0		0.936819	7.025761e-04	0	0	0	2	0	5	237
ASXL1	171023	broad.mit.edu	37	20	31023733	31023733	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:31023733G>A	ENST00000375687.4	+	13	3642	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1073					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTGCGGTCCGCCAAAAGATC	0.572			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4	1.000000	0.210000	0.930000	0.310000	0.460000	0.534748	0.460000	0.400000				Rec	yes			Rec	yes		20	20q11.1	20q11.1	171023	F, N, Mis	additional sex combs like 1				L	L			MDS, CMML		0				722						c.(3217-3219)cGc>cAc		additional sex combs like transcriptional regulator 1							126.0	105.0	112.0					20																	31023733		2203	4300	6503	SO:0001583	missense	171023	0	0					g.chr20:31023733G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3218G>A	chr20.hg19:g.31023733G>A	ENSP00000364839:p.Arg1073His	0					ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	p.R1073H	NM_015338.5	NP_056153	1	2	3	2.015589	Q8IXJ9	ASXL1_HUMAN		13	3642	+			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	0	1	hg19	c.3218G>A	CCDS13201.1	0	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530985	0.45073	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.32515	1.45;1.45	4.17	3.22	0.36961	4.17	3.22	0.36961	.	0.398033	0.27696	N	0.018224	T	0.14356	0.0347	N	0.14661	0.345	0.27406	N	0.954705	P;P	0.46327	0.733;0.876	B;B	0.28638	0.092;0.082	T	0.11203	-1.0597	10	0.66056	D	0.02	-8.1008	13.3344	0.60509	0.0:0.8381:0.1619:0.0	.	1068;1073	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	H	1073;1073;1073;994;1068	ENSP00000364839:R1073H;ENSP00000305119:R1068H	ENSP00000305119:R1068H	R	+	2	0	0	ASXL1	30487394	30487394	0.043000	0.20138	0.202000	0.23494	0.973000	0.67179	1.798000	0.38814	1.347000	0.45714	-0.270000	0.10280	CGC	0.109352		TCGA-2J-AAB9-01A-11D-A40W-08	0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	0	0	1		2	2	2	0		0	0	81		81	80	1	2.020000	-2.130350	0	0.100000	NM_015338			9	11		432	422	0		1	0		0	0	81	0		0.993826	2.056837e-01	0	0	0	37	0	9	432
CSE1L	1434	broad.mit.edu	37	20	47704596	47704596	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:47704596C>T	ENST00000262982.2	+	17	1897	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	592					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCCCTACATCCCTACTCTCAT	0.358																																						ENST00000262982.2	1.000000	0.790000	1.000000	0.990000	0.990000	0.983564	0.990000	1.000000																										0				35						c.(1774-1776)Cct>Tct		CSE1 chromosome segregation 1-like (yeast)							98.0	94.0	96.0					20																	47704596		2203	4300	6503	SO:0001583	missense	1434	0	0					g.chr20:47704596C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1774C>T	chr20.hg19:g.47704596C>T	ENSP00000262982:p.Pro592Ser	0					CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S|CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S	p.P592S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	1	2	3	2.015589	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)	17	1897	+			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	1	1	hg19	c.1774C>T	CCDS13412.1	1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061197	0.36373	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66280	-0.2;-0.2;-0.2	5.57	4.62	0.57501	5.57	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.047464	0.85682	D	0.000000	T	0.53997	0.1831	L	0.41632	1.29	0.80722	D	1	P;P;B;B;P	0.41345	0.57;0.746;0.017;0.032;0.746	B;B;B;B;B	0.41988	0.255;0.372;0.105;0.064;0.372	T	0.50541	-0.8816	10	0.08599	T	0.76	-9.7713	16.5517	0.84474	0.0:0.8694:0.1306:0.0	.	281;375;536;536;592	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	S	190;592;375;536	ENSP00000262982:P592S;ENSP00000446477:P375S;ENSP00000379495:P536S	ENSP00000262982:P592S	P	+	1	0	0	CSE1L	47138003	47138003	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.689000	0.68234	1.336000	0.45506	-0.172000	0.13284	CCT	0.109352		TCGA-2J-AAB9-01A-11D-A40W-08	0.358	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	0	0	1		15	4	2	1		1	1	69		69	69	1	2.020000	-2.642480	1	0.100000	NM_001316			18	18		273	270	1		1	1		1	0	69	0		0.750202	2.113186e-01	0	9	0	27	0	18	273
MGAT3	4248	broad.mit.edu	37	22	39884148	39884148	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:39884148C>T	ENST00000341184.6	+	2	1011	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	266					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGTACATCCGCCACAAGGT	0.637																																						ENST00000341184.6	1.000000	0.150000	0.570000	0.230000	0.350000	0.424407	0.350000	0.300000																										0				24						c.(796-798)Cgc>Tgc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							55.0	54.0	54.0					22																	39884148		2202	4300	6502	SO:0001583	missense	4248	0	0					g.chr22:39884148C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.796C>T	chr22.hg19:g.39884148C>T	ENSP00000345270:p.Arg266Cys	0						p.R266C	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	1	2	3	2.000803	Q09327	MGAT3_HUMAN		2	1011	+	Melanoma(58;0.04)		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	0	1	hg19	c.796C>T	CCDS13994.2	0	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388329	0.82902	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.065075	0.64402	D	0.000012	T	0.65873	0.2733	L	0.43152	1.355	0.58432	D	0.999995	D	0.76494	0.999	P	0.60609	0.877	T	0.68070	-0.5506	9	0.72032	D	0.01	.	14.1179	0.65167	0.1502:0.8498:0.0:0.0	.	266	Q09327	MGAT3_HUMAN	C	266	.	ENSP00000345270:R266C	R	+	1	0	0	MGAT3	38214094	38214094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.306000	0.59117	2.571000	0.86741	0.561000	0.74099	CGC	0.106256		TCGA-2J-AAB9-01A-11D-A40W-08	0.637	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	0	0	1		2	2	2	0		0	0	83		83	83	1	2.020000	-2.491321	0	0.100000	NM_002409			7	7		440	427	0		1	0		0	0	83	0		0.978641	0	0	0	0	1	0	7	440
PHF21B	112885	broad.mit.edu	37	22	45312324	45312324	+	Missense_Mutation	SNP	C	C	T	rs374291941		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:45312324C>T	ENST00000313237.5	-	4	550	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	134							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGGGCTCGGCGAGGGCCTGG	0.726																																						ENST00000313237.5	1.000000	0.750000	1.000000	0.990000	0.990000	0.982075	0.990000	1.000000																										0				25						c.(400-402)Gcc>Acc		PHD finger protein 21B		C	THR/ALA,THR/ALA,THR/ALA	0,4378		0,0,2189	16.0	21.0	19.0		400,364,400	0.2	0.2	22		19	2,8542		0,2,4270	no	missense,missense,missense	PHF21B	NM_138415.4,NM_001242450.1,NM_001135862.2	58,58,58	0,2,6459	TT,TC,CC		0.0234,0.0,0.0155	benign,benign,benign	134/532,122/478,134/490	45312324	2,12920	2189	4272	6461	SO:0001583	missense	112885	5	120466	35				g.chr22:45312324C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.400G>A	chr22.hg19:g.45312324C>T	ENSP00000324403:p.Ala134Thr	0					PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T	p.A134T	NM_138415.4	NP_612424.1	1	2	3	2.000803	Q96EK2	PF21B_HUMAN		4	550	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	0	1	hg19	c.400G>A	CCDS14061.1	1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475266	0.12521	0.0	2.34E-4	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;T;T;T;T	0.82167	-1.58;-1.49;-1.49;1.51;0.84	4.68	0.208	0.15221	4.68	0.208	0.15221	.	0.598227	0.16002	N	0.234261	T	0.66607	0.2806	L	0.29908	0.895	0.20074	N	0.999932	B;B;B;B	0.12013	0.003;0.004;0.002;0.005	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.46830	-0.9163	10	0.11182	T	0.66	-4.4072	6.0924	0.20001	0.0:0.5743:0.1259:0.2999	.	122;134;122;134	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	T	134;134;122;122;122	ENSP00000324403:A134T;ENSP00000379410:A134T;ENSP00000385105:A122T;ENSP00000388619:A122T;ENSP00000401294:A122T	ENSP00000324403:A134T	A	-	1	0	0	PHF21B	43690988	43690988	0.001000	0.12720	0.237000	0.24090	0.423000	0.31445	-0.245000	0.08890	-0.031000	0.13781	-0.136000	0.14681	GCC	0.106256		TCGA-2J-AAB9-01A-11D-A40W-08	0.726	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	1	0	1		2	2	2	0		0	0	23		23	23	1	2.020000	-14.480290	1	0.100000	NM_138415			10	10		131	125	0		1			0	0	23	0		0.996524	0	0	0	0	0	0	10	131
EPB41L5	57669	broad.mit.edu	37	2	120776837	120776837	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:120776837G>A	ENST00000263713.5	+	2	391	c.177G>A	c.(175-177)ttG>ttA	p.L59L	EPB41L5_ENST00000443124.1_Silent_p.L59L|EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	59	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GTGTGGACTTGCCAGTAAGTA	0.443																																						ENST00000263713.5	1.000000	0.990000	1.000000	0.990000	0.990000	0.999847	0.990000	1.000000																										0				26						c.(175-177)ttG>ttA		erythrocyte membrane protein band 4.1 like 5							209.0	204.0	205.0					2																	120776837		2203	4300	6503	SO:0001819	synonymous_variant	57669	0	0					g.chr2:120776837G>A	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.177G>A	chr2.hg19:g.120776837G>A		0					EPB41L5_ENST00000443124.1_Silent_p.L59L|EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000331393.4_Silent_p.L59L	p.L59L	NM_020909.3	NP_065960.2	1	2	3	2.041853	Q9HCM4	E41L5_HUMAN		2	391	+			Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	1	1	hg19	c.177G>A	CCDS2130.1	1																																																																																								0.115044		TCGA-2J-AAB9-01A-11D-A40W-08	0.443	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	1	0	1		2	2	2	0		0	0	125		125	125	1	2.020000	-10.771600	1	0.100000	NM_020909			52	52		676	671	0		1	1		0	0	125	0		1.000000	2.156136e-01	0	4	0	8	0	52	676
PARD3B	117583	broad.mit.edu	37	2	205983664	205983664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:205983664C>T	ENST00000406610.2	+	7	907	c.700C>T	c.(700-702)Cga>Tga	p.R234*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	234	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTCTTCATCCGAGGCATTGA	0.338																																						ENST00000406610.2	1.000000	0.190000	1.000000	0.310000	0.490000	0.576634	0.490000	0.410000																										0				65						c.(700-702)Cga>Tga		par-3 family cell polarity regulator beta							81.0	77.0	78.0					2																	205983664		1835	4085	5920	SO:0001587	stop_gained	117583	0	0					g.chr2:205983664C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.700C>T	chr2.hg19:g.205983664C>T	ENSP00000385848:p.Arg234*	0					PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*	p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	1	2	3	2.037688	Q8TEW8	PAR3L_HUMAN		7	907	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	ENST00000406610.2	0	1	hg19	c.700C>T		0	.	.	.	.	.	.	.	.	.	.	C	35	5.441097	0.96187	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.64	4.75	0.60458	5.64	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.9455	0.79789	0.1361:0.8639:0.0:0.0	.	.	.	.	X	234	.	ENSP00000340280:R234X	R	+	1	2	2	PARD3B	205691909	205691909	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.696000	0.54757	1.361000	0.45981	-0.188000	0.12872	CGA	0.114173		TCGA-2J-AAB9-01A-11D-A40W-08	0.338	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	0	0	1		2	2	2	0		0	0	47		47	47	1	2.020000	-2.644345	1	0.100000	NM_057177			6	6		290	288	0		1	0		0	0	47	0		0.964661	0	0	0	0	1	0	6	290
FARSB	10056	broad.mit.edu	37	2	223489170	223489170	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:223489170G>A	ENST00000281828.6	-	12	1254	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	FARSB_ENST00000536361.1_Silent_p.L232L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	331	B5. {ECO:0000255|PROSITE- ProRule:PRU00816}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCCTGGTCAGAAGTTTGGCA	0.338																																						ENST00000281828.6	1.000000	0.650000	1.000000	0.890000	0.990000	0.958661	0.990000	1.000000																										0				24						c.(991-993)Ctg>Ttg		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						73.0	71.0	71.0					2																	223489170		2203	4300	6503	SO:0001819	synonymous_variant	10056	0	0					g.chr2:223489170G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.991C>T	chr2.hg19:g.223489170G>A		0					FARSB_ENST00000536361.1_Silent_p.L232L	p.L331L	NM_005687.3	NP_005678.3	1	2	3	2.037688	Q9NSD9	SYFB_HUMAN		12	1254	-		Renal(207;0.0183)	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	1	1	hg19	c.991C>T	CCDS2454.1	1																																																																																								0.114173		TCGA-2J-AAB9-01A-11D-A40W-08	0.338	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	1	0	1		2	2	2	0		0	0	54		54	54	1	2.020000	-15.097390	1	0.100000	NM_005687			12	12		204	203	0		1	1		0	0	54	0		0.999173	5.728947e-01	0	7	0	26	0	12	204
MYLK	4638	broad.mit.edu	37	3	123345771	123345771	+	Missense_Mutation	SNP	G	G	A	rs374662467		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:123345771G>A	ENST00000475616.1	-	28	5131	c.5132C>T	c.(5131-5133)aCg>aTg	p.T1711M	MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK_ENST00000360772.3_Missense_Mutation_p.T1660M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M			Q15746	MYLK_HUMAN	myosin light chain kinase	1711	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			CT -> LA (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AAGGCACTGCGTGCAGTCCAG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21548	0.001		0.0	False		,,,				2504	0.0					ENST00000475616.1	1.000000	0.990000	1.000000	0.990000	0.990000	0.999602	0.990000	1.000000																										0				113						c.(5131-5133)aCg>aTg		myosin light chain kinase							104.0	86.0	92.0					3																	123345771		2203	4300	6503	SO:0001583	missense	4638	1	121412	39				g.chr3:123345771G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5132C>T	chr3.hg19:g.123345771G>A	ENSP00000418335:p.Thr1711Met	0					MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK_ENST00000360772.3_Missense_Mutation_p.T1660M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK_ENST00000418370.2_5'Flank|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M	p.T1711M			0	1	1	1.995938	Q15746	MYLK_HUMAN		28	5131	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.5132C>T	CCDS46896.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096308	0.76870	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66099	1.04;-0.19;1.04;-0.19;-0.19;-0.19	5.22	5.22	0.72569	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71160	0.3307	L	0.31752	0.955	0.42283	D	0.992105	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.978;0.978;0.978;0.978;0.991	T	0.73764	-0.3880	9	0.62326	D	0.03	.	18.9654	0.92694	0.0:0.0:1.0:0.0	.	1711;1591;1660;1642;1711	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	M	1660;1711;1660;1642;511;1711	ENSP00000354004:T1660M;ENSP00000353452:T1711M;ENSP00000352088:T1660M;ENSP00000320622:T1642M;ENSP00000346846:T511M;ENSP00000418335:T1711M	ENSP00000320622:T1642M	T	-	2	0	0	MYLK	124828461	124828461	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.036000	0.64164	2.732000	0.93576	0.591000	0.81541	ACG	0.093656		TCGA-2J-AAB9-01A-11D-A40W-08	0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1		2	2	2	0		0	0	37		37	37	1	2.020000	-9.308555	1	0.100000	NM_053025			19	19		166	164	1		1	0		0	0	37	0		0.999992	8.246527e-01	0	0	0	30	0	19	166
GRIP2	80852	broad.mit.edu	37	3	14552768	14552768	+	RNA	SNP	C	C	T	rs566897826		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:14552768C>T	ENST00000273083.3	-	0	1902							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTTGTCCAGGCGGATATTGTC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19876	0.0		0.0	False		,,,				2504	0.001					ENST00000273083.3	1.000000	0.750000	1.000000	0.900000	0.990000	0.963068	0.990000	1.000000																										0				25								glutamate receptor interacting protein 2							80.0	83.0	82.0					3																	14552768		2073	4209	6282			80852	10	121072	38				g.chr3:14552768C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		chr3.hg19:g.14552768C>T		0									0	1	1	1.919377	Q9C0E4	GRIP2_HUMAN		0	1902	-			Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	1	1	hg19			1																																																																																								0.058577		TCGA-2J-AAB9-01A-11D-A40W-08	0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	1		2	2	2	0		0	0	36		36	34	1	2.020000	-7.802773	1	0.100000	NM_001080423			16	16		159	156	0		1			0	0	36	0		0.999939	0	0	0	0	0	0	16	159
MSL2	55167	broad.mit.edu	37	3	135913815	135913815	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:135913815G>A	ENST00000309993.2	-	1	873	c.141C>T	c.(139-141)tgC>tgT	p.C47C	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	47	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GCGTCTCACCGCAAACACAGC	0.507																																						ENST00000309993.2	0.360000	0.080000	0.280000	0.130000	0.190000	0.208829	0.190000	0.180000																										0				18						c.(139-141)tgC>tgT		male-specific lethal 2 homolog (Drosophila)							156.0	164.0	161.0					3																	135913815		2203	4300	6503	SO:0001630	splice_region_variant	55167	1	121412	33				g.chr3:135913815G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.142+1C>T	chr3.hg19:g.135913815G>A		0					MSL2_ENST00000434835.2_5'Flank	p.C47C	NM_018133.3	NP_060603.2	0	1	1	1.995938	Q9HCI7	MSL2_HUMAN		1	873	-			B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Splice_Site	SNP	ENST00000309993.2	0	1	hg19	c.141C>T	CCDS33861.1	0																																																																																								0.093656		TCGA-2J-AAB9-01A-11D-A40W-08	0.507	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	0	0	1		2	2	2	0		0	0	150		150	148	1	2.020000	-1.879099	0	0.100000	NM_018133	Silent		7	7		742	738	0		1	0		0	0	150	0		0.980280	9.026759e-03	0	0	0	13	0	7	742
MED12L	116931	broad.mit.edu	37	3	151107890	151107890	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:151107890G>A	ENST00000474524.1	+	36	5508	c.5470G>A	c.(5470-5472)Ggc>Agc	p.G1824S	MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1824						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)			CCAGCAGCCCGGCTTTTTCCT	0.502																																						ENST00000474524.1	1.000000	0.650000	1.000000	0.780000	0.920000	0.902447	0.920000	1.000000																										0				128						c.(5470-5472)Ggc>Agc		mediator complex subunit 12-like							148.0	161.0	156.0					3																	151107890		2203	4300	6503	SO:0001583	missense	116931	0	0					g.chr3:151107890G>A	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.5470G>A	chr3.hg19:g.151107890G>A	ENSP00000417235:p.Gly1824Ser	0					MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	p.G1824S	NM_053002.4	NP_443728.3	0	1	1	1.995938	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	36	5508	+			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	1	1	hg19	c.5470G>A	CCDS33876.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727184	0.48833	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59906	0.37;0.23	5.75	-0.308	0.12773	5.75	-0.308	0.12773	Mediator complex, subunit Med12, catenin-binding (1);	0.320200	0.34110	N	0.004251	T	0.40886	0.1135	L	0.35723	1.085	0.23449	N	0.997655	B;B	0.32409	0.37;0.033	B;B	0.27380	0.079;0.038	T	0.22382	-1.0218	10	0.52906	T	0.07	-5.806	9.6232	0.39734	0.4167:0.0:0.5833:0.0	.	1684;1824	F8WAE6;Q86YW9	.;MD12L_HUMAN	S	1824;1684	ENSP00000417235:G1824S;ENSP00000273432:G1684S	ENSP00000273432:G1684S	G	+	1	0	0	MED12L	152590580	152590580	0.860000	0.29831	0.190000	0.23270	0.991000	0.79684	0.622000	0.24433	-0.386000	0.07821	0.655000	0.94253	GGC	0.093656		TCGA-2J-AAB9-01A-11D-A40W-08	0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1		2	2	2	0		0	0	133		133	123	1	2.020000	-4.357162	1	0.100000	NM_053002			34	33		694	672	0		1			0	0	133	0		1.000000	0	0	0	0	0	0	34	694
ABCF3	55324	broad.mit.edu	37	3	183904017	183904017	+	Silent	SNP	C	C	T	rs202156124		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:183904017C>T	ENST00000429586.2	+	1	207	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	ABCF3_ENST00000292808.5_Silent_p.L8L|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	8					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCCGAAATCCTGCGGAGCGA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14308	0.0		0.001	False		,,,				2504	0.0					ENST00000429586.2	1.000000	0.580000	1.000000	0.760000	0.970000	0.907662	0.970000	1.000000																										0				39						c.(22-24)Ctg>Ttg		ATP-binding cassette, sub-family F (GCN20), member 3							67.0	65.0	65.0					3																	183904017		2203	4300	6503	SO:0001819	synonymous_variant	55324	2	121410	34				g.chr3:183904017C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.22C>T	chr3.hg19:g.183904017C>T		0					ABCF3_ENST00000292808.5_Silent_p.L8L|EIF2B5_ENST00000444495.1_Intron	p.L8L	NM_018358.2	NP_060828.2	0	1	1	1.995938	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	1	207	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	1	1	hg19	c.22C>T	CCDS3254.1	1																																																																																								0.093656		TCGA-2J-AAB9-01A-11D-A40W-08	0.652	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	1	0	1		2	2	2	0		0	0	55		55	55	1	2.020000	-2.921758	1	0.100000	NM_018358			16	17		309	304	0		1	1		0	0	55	0		0.999932	2.409718e-01	0	3	0	15	0	16	309
FETUB	26998	broad.mit.edu	37	3	186370361	186370361	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:186370361C>T	ENST00000265029.3	+	7	1191	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	364					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R364C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGAAAAAGCACGCACTGCTGA	0.562																																						ENST00000265029.3	0.750000	0.180000	0.580000	0.280000	0.410000	0.438764	0.410000	0.390000																										1	Substitution - Missense(1)	p.R364C(1)	large_intestine(1)	20						c.(1090-1092)Cgc>Tgc		fetuin B							51.0	55.0	54.0					3																	186370361		2203	4300	6503	SO:0001583	missense	26998	8	121412	40				g.chr3:186370361C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1090C>T	chr3.hg19:g.186370361C>T	ENSP00000265029:p.Arg364Cys	0					FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.R299C|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C	p.R364C	NM_014375.2	NP_055190.2	0	1	1	1.995938	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	7	1191	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	0	1	hg19	c.1090C>T	CCDS3279.1	0	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694262	0.48202	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	4.27	2.33	0.28932	4.27	2.33	0.28932	.	0.527286	0.17286	N	0.179826	T	0.70979	0.3286	M	0.69823	2.125	0.09310	N	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66602	0.92;0.945;0.91	T	0.58707	-0.7589	10	0.87932	D	0	-7.428	4.7449	0.13033	0.2128:0.6758:0.0:0.1115	.	327;299;364	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	C	364;216;364;299;327	ENSP00000404288:R364C;ENSP00000443704:R216C;ENSP00000265029:R364C;ENSP00000371569:R299C;ENSP00000371571:R327C	ENSP00000265029:R364C	R	+	1	0	0	FETUB	187853055	187853055	0.000000	0.05858	0.170000	0.22879	0.001000	0.01503	0.050000	0.14120	1.169000	0.42739	-0.140000	0.14226	CGC	0.093656		TCGA-2J-AAB9-01A-11D-A40W-08	0.562	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	0	0	1		2	2	2	0		0	0	53		53	48	1	2.020000	-3.303856	1	0.100000	NM_014375			7	6		343	339	0		1			0	0	53	0		0.979855	0	0	0	0	0	0	7	343
CCDC50	152137	broad.mit.edu	37	3	191098488	191098488	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:191098488G>A	ENST00000392455.3	+	7	1175	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	193						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TACCCAGGTGGACATGAGAGC	0.348																																						ENST00000392455.3	1.000000	0.430000	1.000000	0.660000	0.950000	0.866096	0.950000	1.000000																										0				23						c.(577-579)Gac>Aac		coiled-coil domain containing 50							86.0	93.0	91.0					3																	191098488		2203	4300	6503	SO:0001583	missense	152137	0	0					g.chr3:191098488G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.577G>A	chr3.hg19:g.191098488G>A	ENSP00000376249:p.Asp193Asn	0					CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	p.D193N	NM_174908.3	NP_777568.1	0	1	1	1.995938	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	7	1175	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	1	1	hg19	c.577G>A	CCDS33913.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634726	0.87660	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.55413	0.88;0.52	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.109300	0.64402	D	0.000008	T	0.72930	0.3522	M	0.79258	2.445	0.38906	D	0.957439	D;D	0.89917	0.999;1.0	D;D	0.87578	0.951;0.998	T	0.77768	-0.2464	10	0.87932	D	0	.	14.8753	0.70491	0.0:0.0:1.0:0.0	.	193;369	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	N	193;369	ENSP00000376249:D193N;ENSP00000376250:D369N	ENSP00000376249:D193N	D	+	1	0	0	CCDC50	192581182	192581182	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.382000	0.66213	2.576000	0.86940	0.591000	0.81541	GAC	0.093656		TCGA-2J-AAB9-01A-11D-A40W-08	0.348	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	1	0	1		2	2	2	0		0	0	36		36	36	1	2.020000	-10.124270	1	0.100000	NM_174908			7	7		139	135	0		1	1		0	0	36	0		0.979474	9.024162e-01	0	14	0	71	0	7	139
C1QTNF7	114905	broad.mit.edu	37	4	15444115	15444115	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:15444115G>A	ENST00000444304.2	+	3	888	c.562G>A	c.(562-564)Gct>Act	p.A188T	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.A195T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	188	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GTTCATCTGTGCTTTCCCAGG	0.438																																						ENST00000444304.2	1.000000	0.790000	1.000000	0.910000	0.990000	0.971265	0.990000	1.000000																										0				16						c.(562-564)Gct>Act		C1q and tumor necrosis factor related protein 7							152.0	166.0	161.0					4																	15444115		2203	4300	6503	SO:0001583	missense	114905	0	0					g.chr4:15444115G>A	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.562G>A	chr4.hg19:g.15444115G>A	ENSP00000388914:p.Ala188Thr	0					C1QTNF7_ENST00000295297.4_Missense_Mutation_p.A195T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T	p.A188T			0	0	0	1.955828	Q9BXJ2	C1QT7_HUMAN		3	888	+			B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	1	1	hg19	c.562G>A	CCDS3414.1	1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656712	0.67586	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.74842	-0.88;-0.88;-0.88	5.8	5.8	0.92144	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.052703	0.85682	D	0.000000	T	0.72669	0.3489	N	0.21617	0.685	0.80722	D	1	P	0.51240	0.943	P	0.51516	0.672	T	0.69665	-0.5084	9	.	.	.	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	188	Q9BXJ2	C1QT7_HUMAN	T	195;188;188	ENSP00000295297:A195T;ENSP00000410722:A188T;ENSP00000388914:A188T	.	A	+	1	0	0	C1QTNF7	15053213	15053213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.748000	0.94277	0.655000	0.94253	GCT	0.075026		TCGA-2J-AAB9-01A-11D-A40W-08	0.438	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2	1	0	1		2	2	2	0		0	0	194		194	191	1	2.020000	-7.395627	1	0.100000				49	48		845	831	0		1	0		0	0	194	0		1.000000	0	0	0	0	1	0	49	845
WDR36	134430	broad.mit.edu	37	5	110459563	110459563	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:110459563A>G	ENST00000513710.2	+	20	2381	c.2377A>G	c.(2377-2379)Aca>Gca	p.T793A	WDR36_ENST00000506538.2_Missense_Mutation_p.T793A			Q8NI36	WDR36_HUMAN	WD repeat domain 36	793					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTCATTCCAACAATTCCTGG	0.353																																						ENST00000513710.2	1.000000	0.640000	1.000000	0.820000	0.990000	0.937443	0.990000	1.000000																										0				45						c.(2377-2379)Aca>Gca		WD repeat domain 36							120.0	122.0	122.0					5																	110459563		2202	4300	6502	SO:0001583	missense	134430	1	121410	36				g.chr5:110459563A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2377A>G	chr5.hg19:g.110459563A>G	ENSP00000424628:p.Thr793Ala	0					WDR36_ENST00000506538.2_Missense_Mutation_p.T793A	p.T793A			0	0	0	1.975219	Q8NI36	WDR36_HUMAN		20	2381	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	1	1	hg19	c.2377A>G	CCDS4102.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419359	0.83559	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.80824	-1.42;-1.42	5.65	5.65	0.86999	5.65	5.65	0.86999	Small-subunit processome, Utp21 (1);	0.000000	0.85682	D	0.000000	D	0.89529	0.6741	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.90801	0.4694	10	0.87932	D	0	-21.8617	16.1611	0.81712	1.0:0.0:0.0:0.0	.	793	Q8NI36	WDR36_HUMAN	A	793	ENSP00000423067:T793A;ENSP00000424628:T793A	ENSP00000423067:T793A	T	+	1	0	0	WDR36	110487462	110487462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.272000	0.75746	0.460000	0.39030	ACA	0.083503		TCGA-2J-AAB9-01A-11D-A40W-08	0.353	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	1	0	1		2	2	2	0		0	0	93		93	91	1	2.020000	-19.799980	1	0.100000	NM_139281			18	18		318	318	0		1	0		0	0	93	0		0.999984	1.458305e-01	0	1	0	11	0	18	318
EPB41L4A	64097	broad.mit.edu	37	5	111616005	111616005	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:111616005C>T	ENST00000261486.5	-	3	496	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	74	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGTTTTTGCAGGATCCAGC	0.338																																						ENST00000261486.5	0.340000	0.070000	0.260000	0.120000	0.180000	0.195387	0.180000	0.170000																										0				34						c.(220-222)Gca>Aca		erythrocyte membrane protein band 4.1 like 4A							193.0	180.0	184.0					5																	111616005		1843	4090	5933	SO:0001583	missense	64097	0	0					g.chr5:111616005C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.220G>A	chr5.hg19:g.111616005C>T	ENSP00000261486:p.Ala74Thr	0						p.A74T	NM_022140.3	NP_071423	0	0	0	1.975219	Q9HCS5	E41LA_HUMAN		3	496	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	0	1	hg19	c.220G>A	CCDS43350.1	0	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008081	0.19199	.	.	ENSG00000129595	ENST00000261486	T	0.76709	-1.04	5.95	4.08	0.47627	5.95	4.08	0.47627	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.284025	0.35262	N	0.003333	T	0.55337	0.1914	N	0.11000	0.08	0.29488	N	0.855849	B	0.18461	0.028	B	0.17722	0.019	T	0.47209	-0.9135	10	0.27082	T	0.32	.	6.3895	0.21579	0.149:0.6989:0.0:0.1521	.	74	Q9HCS5	E41LA_HUMAN	T	74	ENSP00000261486:A74T	ENSP00000261486:A74T	A	-	1	0	0	EPB41L4A	111643904	111643904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.000000	0.29770	1.524000	0.49035	0.655000	0.94253	GCA	0.083503		TCGA-2J-AAB9-01A-11D-A40W-08	0.338	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	0	0	1		15	2	2	1		1	1	200		200	196	1	2.020000	-1.817398	0	0.100000				7	7		784	780	0		0	0		1	0	200	0		0.063656	6.729738e-04	0	0	0	4	0	7	784
PCDHA3	56145	broad.mit.edu	37	5	140183013	140183013	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:140183013C>T	ENST00000522353.2	+	1	2231	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	744	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCAGCGCGGTGGGGAGC	0.637																																						ENST00000522353.2	1.000000	0.590000	1.000000	0.730000	0.900000	0.878971	0.900000	1.000000																										0				95						c.(2230-2232)gCg>gTg		protocadherin alpha 3							78.0	85.0	83.0					5																	140183013		2203	4300	6503	SO:0001583	missense	56145	0	0					g.chr5:140183013C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2231C>T	chr5.hg19:g.140183013C>T	ENSP00000429808:p.Ala744Val	0					PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A744V	NM_018906.2	NP_061729.1	0	0	0	1.975219	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2231	+			O75286	Missense_Mutation	SNP	ENST00000522353.2	1	1	hg19	c.2231C>T	CCDS54915.1	1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999339	0.74818	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.76709	-1.04;-1.04	4.16	3.22	0.36961	4.16	3.22	0.36961	.	0.177603	0.26187	U	0.025825	D	0.85974	0.5822	M	0.93550	3.43	0.21020	N	0.999808	D;P	0.62365	0.991;0.714	P;B	0.56216	0.794;0.285	T	0.77048	-0.2732	10	0.34782	T	0.22	.	7.9252	0.29870	0.2451:0.6621:0.0:0.0928	.	744;744	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	744	ENSP00000429808:A744V;ENSP00000434086:A744V	ENSP00000429808:A744V	A	+	2	0	0	PCDHA3	140163197	140163197	0.005000	0.15991	1.000000	0.80357	0.975000	0.68041	0.359000	0.20233	2.039000	0.60335	0.467000	0.42956	GCG	0.083503		TCGA-2J-AAB9-01A-11D-A40W-08	0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	1	0	1		2	2	2	0		0	0	104		104	102	1	2.020000	-4.890256	1	0.100000	NM_018906			23	23		476	464	0		1	0		0	0	104	0		0.999999	2.385667e-03	0	0	0	2	0	23	476
TXLNB	167838	broad.mit.edu	37	6	139563774	139563774	+	Silent	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:139563774G>A	ENST00000358430.3	-	10	2176	c.1944C>T	c.(1942-1944)tgC>tgT	p.C648C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	648						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TACTGGGCTCGCATGCAGGCA	0.652																																						ENST00000358430.3	1.000000	0.390000	0.870000	0.520000	0.680000	0.697189	0.680000	1.000000																										0				37						c.(1942-1944)tgC>tgT		taxilin beta							62.0	67.0	65.0					6																	139563774		2203	4300	6503	SO:0001819	synonymous_variant	167838	0	0					g.chr6:139563774G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1944C>T	chr6.hg19:g.139563774G>A		1					RP1-225E12.3_ENST00000585874.1_RNA	p.C648C	NM_153235.3	NP_694967.3	1	9	10	2.842403	Q8N3L3	TXLNB_HUMAN		10	2176	-			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	1	1	hg19	c.1944C>T	CCDS34545.1	0																																																																																								0.357143		TCGA-2J-AAB9-01A-11D-A40W-08	0.652	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	0	0	1		22	2	2	1		1	1	99		99	93	1	2.020000	-2.696289	1	0.100000	NM_153235			16	16		658	640	0		0			1	0	99	0		0.180870	0	0	0	0	0	0	16	658
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597																																						ENST00000356530.3	0.350000	0.080000	0.270000	0.120000	0.180000	0.201434	0.180000	0.180000																										0				4						c.(217-219)cGc>cAc		histone cluster 1, H2be							119.0	116.0	117.0					6																	26184241		2203	4300	6503	SO:0001583	missense	8344	0	0					g.chr6:26184241G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.218G>A	chr6.hg19:g.26184241G>A	ENSP00000348924:p.Arg73His	0						p.R73H	NM_003523.2	NP_003514.2	0	1	1	1.959608	P62807	H2B1C_HUMAN		1	284	+			P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	0	1	hg19	c.218G>A	CCDS4588.1	0	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	0	HIST1H2BE	26292220	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC	0.081633		TCGA-2J-AAB9-01A-11D-A40W-08	0.597	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	0	0	1		2	2	2	0		0	0	128		128	127	1	2.020000	-1.790174	0	0.100000	NM_003523			7	7		758	735	0		1	0		0	0	128	0		0.978422	0	0	0	0	1	0	7	758
SYNJ2	8871	broad.mit.edu	37	6	158484842	158484842	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:158484842C>T	ENST00000355585.4	+	9	1222	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	383	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGCACTTTGCGGATGAACTG	0.502																																						ENST00000355585.4	0.440000	0.090000	0.330000	0.150000	0.220000	0.245516	0.220000	0.210000																										0				46						c.(1147-1149)Cgg>Tgg		synaptojanin 2							166.0	158.0	161.0					6																	158484842		2203	4300	6503	SO:0001583	missense	8871	3	121412	40				g.chr6:158484842C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1147C>T	chr6.hg19:g.158484842C>T	ENSP00000347792:p.Arg383Trp	0					SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W	p.R383W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	0	1	1	1.921593	O15056	SYNJ2_HUMAN		9	1222	+			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	0	1	hg19	c.1147C>T	CCDS5254.1	0	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188294	0.78789	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.98	4.98	0.66077	4.98	4.98	0.66077	Synaptojanin, N-terminal (1);	0.000000	0.56097	D	0.000035	T	0.68805	0.3041	H	0.99668	4.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.999	D	0.85064	0.0936	10	0.87932	D	0	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	311;383;383;383	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	W	383;383;383;311	ENSP00000356089:R383W;ENSP00000356088:R383W;ENSP00000347792:R383W;ENSP00000388371:R311W	ENSP00000347792:R383W	R	+	1	2	2	SYNJ2	158404830	158404830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.324000	0.52022	2.327000	0.79052	0.456000	0.33151	CGG	0.064935		TCGA-2J-AAB9-01A-11D-A40W-08	0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	0	0	1		2	2	2	0		0	0	113		113	111	1	2.020000	-1.967216	0	0.100000				6	7		526	516	0		1	0		0	0	113	0		0.963261	1.153527e-02	0	0	0	12	0	6	526
TRIP6	7205	broad.mit.edu	37	7	100466383	100466383	+	Silent	SNP	G	G	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100466383G>T	ENST00000200457.4	+	4	990	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	210					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGTCTGGGGGCCTGGCTATA	0.701																																						ENST00000200457.4	1.000000	0.750000	1.000000	0.990000	0.990000	0.983687	0.990000	1.000000																										0				14						c.(628-630)ggG>ggT		thyroid hormone receptor interactor 6							9.0	12.0	11.0					7																	100466383		1846	4081	5927	SO:0001819	synonymous_variant	7205	1	120162	29				g.chr7:100466383G>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.630G>T	chr7.hg19:g.100466383G>T		0						p.G210G	NM_003302.2	NP_003293.2	1	2	3	2.025660	Q15654	TRIP6_HUMAN		4	990	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	1	1	hg19	c.630G>T	CCDS5708.1	1																																																																																								0.111550		TCGA-2J-AAB9-01A-11D-A40W-08	0.701	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	1	0	1		2	2	2	0		0	0	30		30	28	1	2.020000	-13.072860	1	0.100000	NM_003302			8	8		98	97	1		1	1		0	0	30	0		0.989896	9.805972e-01	0	26	0	63	0	8	98
ABCB1	5243	broad.mit.edu	37	7	87190672	87190672	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:87190672A>G	ENST00000265724.3	-	9	1151	c.734T>C	c.(733-735)tTa>tCa	p.L245S	ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	245	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGCATACGCTAAGAGTTCTTT	0.318																																						ENST00000265724.3	1.000000	0.560000	1.000000	0.800000	0.990000	0.931651	0.990000	1.000000																										0				111						c.(733-735)tTa>tCa		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)						60.0	60.0	60.0					7																	87190672		2202	4300	6502	SO:0001583	missense	5243	0	0					g.chr7:87190672A>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.734T>C	chr7.hg19:g.87190672A>G	ENSP00000265724:p.Leu245Ser	0					ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	p.L245S	NM_000927.4	NP_000918.2	1	2	3	2.025660	P08183	MDR1_HUMAN		9	1151	-	Esophageal squamous(14;0.00164)		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	1	1	hg19	c.734T>C	CCDS5608.1	1	.	.	.	.	.	.	.	.	.	.	A	1.804	-0.476462	0.04414	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88896	-2.44;-2.44	5.74	-1.39	0.08997	5.74	-1.39	0.08997	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.288110	0.05571	N	0.571119	T	0.68879	0.3049	N	0.02368	-0.58	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.0;0.009	T	0.60265	-0.7297	10	0.09338	T	0.73	0.2998	4.5323	0.12011	0.2258:0.0:0.2567:0.5174	.	181;245	B5AK60;P08183	.;MDR1_HUMAN	S	26;245;181	ENSP00000265724:L245S;ENSP00000444095:L181S	ENSP00000265724:L245S	L	-	2	0	0	ABCB1	87028608	87028608	0.000000	0.05858	0.034000	0.17996	0.760000	0.43138	0.871000	0.28023	-0.139000	0.11414	-0.336000	0.08194	TTA	0.111550		TCGA-2J-AAB9-01A-11D-A40W-08	0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1		2	2	2	0		0	0	41		41	39	1	2.020000	-13.362400	1	0.100000	NM_000927			10	10		185	183	0		1	0		0	0	41	0		0.996953	1.858242e-02	0	0	0	4	0	10	185
SSPO	23145	broad.mit.edu	37	7	149477126	149477126	+	RNA	SNP	C	C	T	rs376652882	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:149477126C>T	ENST00000378016.2	+	0	1303							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAAGAGGGGCGGCAGCAGGC	0.637													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18259	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2	1.000000	0.540000	1.000000	0.900000	0.990000	0.951540	0.990000	1.000000																										0												SCO-spondin		T		4,4092		0,4,2044	30.0	32.0	31.0		1305	2.4	0.0	7		31	0,8354		0,0,4177	no	coding-notMod3	SSPO	NM_198455.2		0,4,6221	TT,TC,CC		0.0,0.0977,0.0321			149477126	4,12446	2048	4177	6225			23145	13	120664	39				g.chr7:149477126C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149477126C>T		0									1	2	3	2.040487	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	1303	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	0	1	hg19			1																																																																																								0.115044		TCGA-2J-AAB9-01A-11D-A40W-08	0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	13		13	13	1	2.020000	-9.539402	1	0.100000				5	5		74	73	0		1			0	0	13	0		0.937555	0	0	0	0	0	0	5	74
KCNS2	3788	broad.mit.edu	37	8	99440470	99440470	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:99440470G>A	ENST00000287042.4	+	2	613	c.263G>A	c.(262-264)gGc>gAc	p.G88D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	88					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G88D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TATCACACCGGCAAGCTTCAC	0.542																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4	0.520000	0.110000	0.400000	0.180000	0.270000	0.295399	0.270000	0.250000																										1	Substitution - Missense(1)	p.G88D(1)	lung(1)	31						c.(262-264)gGc>gAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							135.0	109.0	118.0					8																	99440470		2203	4300	6503	SO:0001583	missense	3788	0	0					g.chr8:99440470G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.263G>A	chr8.hg19:g.99440470G>A	ENSP00000287042:p.Gly88Asp	0					KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	p.G88D	NM_020697.2	NP_065748.1	0	1	1	1.996969	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)	2	613	+	Breast(36;2.4e-06)		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	0	1	hg19	c.263G>A	CCDS6279.1	0	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376631	0.82682	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.55930	0.49;0.49	5.41	5.41	0.78517	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.055844	0.64402	D	0.000001	T	0.80864	0.4705	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85918	0.1444	10	0.87932	D	0	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	88	Q9ULS6	KCNS2_HUMAN	D	88	ENSP00000287042:G88D;ENSP00000430712:G88D	ENSP00000287042:G88D	G	+	2	0	0	KCNS2	99509646	99509646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GGC	0.094112		TCGA-2J-AAB9-01A-11D-A40W-08	0.542	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	0	0	1		2	2	2	0		0	0	92		92	89	1	2.020000	-2.133737	0	0.100000	NM_020697			6	6		453	448	0		1			0	0	92	0		0.963996	0	0	0	0	0	0	6	453
VPS13B	157680	broad.mit.edu	37	8	100729436	100729436	+	Silent	SNP	C	C	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:100729436C>T	ENST00000358544.2	+	37	6678	c.6567C>T	c.(6565-6567)aaC>aaT	p.N2189N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.N2164N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2189					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGTATAAACGATTTTCTCC	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2	1.000000	0.770000	1.000000	0.990000	0.990000	0.982189	0.990000	1.000000																										0				193						c.(6565-6567)aaC>aaT		vacuolar protein sorting 13 homolog B (yeast)							58.0	60.0	59.0					8																	100729436		2203	4300	6503	SO:0001819	synonymous_variant	157680	2	121404	25				g.chr8:100729436C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6567C>T	chr8.hg19:g.100729436C>T		0					VPS13B_ENST00000357162.2_Silent_p.N2164N|VPS13B_ENST00000395996.1_3'UTR	p.N2189N	NM_017890.4	NP_060360.3	0	1	1	1.996969	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)	37	6678	+	Breast(36;3.73e-07)		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	1	1	hg19	c.6567C>T	CCDS6280.1	1																																																																																								0.094112		TCGA-2J-AAB9-01A-11D-A40W-08	0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1		2	2	2	0		0	0	45		45	42	1	2.020000	-6.173016	1	0.100000	NM_184042			15	15		209	208	0		1	1		0	0	45	0		0.999885	1.506866e-02	0	2	0	1	0	15	209
DMD	1756	broad.mit.edu	37	X	31525402	31525402	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:31525402T>A	ENST00000357033.4	-	56	8592	c.8386A>T	c.(8386-8388)Att>Ttt	p.I2796F	DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F|DMD_ENST00000474231.1_Missense_Mutation_p.I336F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F|DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000445312.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2796					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTAATGTTGAGAGAC	0.408																																						ENST00000357033.4	1.000000	0.690000	1.000000	0.890000	0.990000	0.959545	0.990000	1.000000																										0				77						c.(8386-8388)Att>Ttt		dystrophin							153.0	128.0	136.0					X																	31525402		2201	4300	6501	SO:0001583	missense	1756	0	0					g.chrX:31525402T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8386A>T	chrX.hg19:g.31525402T>A	ENSP00000354923:p.Ile2796Phe						DMD_ENST00000474231.1_Missense_Mutation_p.I336F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F	p.I2796F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	0	1	1		P11532	DMD_HUMAN		56	8592	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	1	1	hg19	c.8386A>T	CCDS14233.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.85|19.85	3.903073|3.903073	0.72754|0.72754	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.75|5.75	5.75|5.75	0.90469|0.90469	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.37304	.|U	.|0.002147	T|T	0.69287|0.69287	0.3094|0.3094	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.994;0.994;0.993;0.994;0.994;0.989;0.996;0.996;0.997;0.993;1.0	.|P;D;D;D;D;D;D;D;D;P;D	.|0.76575	.|0.791;0.917;0.912;0.917;0.917;0.949;0.978;0.978;0.917;0.865;0.988	T|T	0.72491|0.72491	-0.4277|-0.4277	5|10	.|0.54805	.|T	.|0.06	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2788;2796;2792;1455;1452;336;336;336;336;336;2673	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	L|F	524|2788;1455;1452;492;2792;2796;336;336;2796;2673;336;336;336	.|ENSP00000350765:I492F;ENSP00000367948:I2792F;ENSP00000354923:I2796F;ENSP00000352894:I336F;ENSP00000340057:I336F;ENSP00000367979:I336F;ENSP00000444119:I336F;ENSP00000417123:I336F	.|ENSP00000340057:I336F	H|I	-|-	2|1	0|0	0|0	DMD|DMD	31435323|31435323	31435323|31435323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.220000|5.220000	0.65267|0.65267	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	CAT|ATT	0.100000		TCGA-2J-AAB9-01A-11D-A40W-08	0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1		2	2	2	0		0	0	85		85	81	1	2.020000	-19.727000	1	0.100000	NM_004006			17	17		283	278	0		1			0	0	85	0		0.999964	0	0	0	0	0	0	17	283
KDM6A	7403	broad.mit.edu	37	X	44928823	44928823	+	Splice_Site	SNP	G	G	T			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:44928823G>T	ENST00000377967.4	+	17	1964		c.e17-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTCTTTTTAGGGGCTTCACA	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4	1.000000	0.490000	1.000000	0.720000	0.990000	0.898247	0.990000	1.000000				Rec	yes			Rec	yes		X	Xp11.2	Xp11.2	7403	D, N, F, S	"""lysine (K)-specific demethylase 6A, UTX"""				"""E, L"""	E, L			renal, oesophageal SCC, MM		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	170						c.e17-1		lysine (K)-specific demethylase 6A							26.0	26.0	26.0					X																	44928823		2200	4295	6495	SO:0001630	splice_region_variant	7403	0	0					g.chrX:44928823G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1924-1G>T	chrX.hg19:g.44928823G>T							KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site		NM_021140.2	NP_066963.2	0	1	1		O15550	KDM6A_HUMAN		17	1964	+			Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	1	1	hg19		CCDS14265.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360767	0.61403	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.08	5.08	0.68730	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9308	0.88996	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	KDM6A	44813767	44813767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.114000	0.94329	2.255000	0.74692	0.600000	0.82982	.	0.100000		TCGA-2J-AAB9-01A-11D-A40W-08	0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	1	0	1		2	2	6	0		0	0	38		38	37	1	2.020000	-2.934003	1	0.100000	NM_021140	Intron		8	8		149	148	0		1		1	0	1	38	731		0.989685	0	9.998065e-01	0	46	0	641	8	149
L1CAM	3897	broad.mit.edu	37	X	153130847	153130847	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612																																						ENST00000370060.1	0.390000	0.080000	0.300000	0.130000	0.200000	0.220406	0.200000	0.190000																										1	Substitution - Missense(1)	p.R886W(1)	lung(1)	81						c.(2656-2658)Cgg>Tgg		L1 cell adhesion molecule							141.0	114.0	123.0					X																	153130847		2203	4300	6503	SO:0001583	missense	3897	5	121410	41				g.chrX:153130847G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2656C>T	chrX.hg19:g.153130847G>A	ENSP00000359077:p.Arg886Trp						L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W	p.R886W	NM_001278116.1	NP_001265045.1	0	1	1		P32004	L1CAM_HUMAN		21	2845	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	0	1	hg19	c.2656C>T	CCDS14733.1	0	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	2	L1CAM	152784041	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG	0.100000		TCGA-2J-AAB9-01A-11D-A40W-08	0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	0	0	1		2	2	2	0		0	0	116		116	111	1	2.020000	-1.565663	0	0.100000	NM_024003			6	6		618	602	0		1	0	0	0	0	116	488		0.962188	4.239339e-04	9.331763e-01	0	0	3	499	6	618
