#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
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Frame_Shift_Del	DEL	C	C	-	rs121913384		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:21971096delC	ENST00000304494.5	-	2	532	c.262delG	c.(262-264)gagfs	p.E88fs	CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.998930	0.990000	1.000000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																								1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(262-264)gagfs		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001589	frameshift_variant	1029	0	0					g.chr9:21971096delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262delG	chr9.hg19:g.21971096delC	ENSP00000307101:p.Glu88fs	1	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs	p.E88fs	NM_000077.4	NP_000068.1	0	2	2	1.716754	P42771	CD2A1_HUMAN		2	532	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	1	0	hg19	c.262delG	CCDS6510.1	1																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	1		13	2	2	0	0	0	1	42	0	42	40	1	3.280000	-3.465120	1	0.240000	NM_000077		0	28	29	0	128	117	0	0	1	1	1	0	0	42	175	0	0.993169	1	1	162	41	272	148	28	128
GRHPR	9380	broad.mit.edu	37	9	37425978	37425978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:37425978delG	ENST00000318158.6	+	3	359	c.274delG	c.(274-276)gaafs	p.E92fs	GRHPR_ENST00000607784.1_Frame_Shift_Del_p.E92fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	92					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGCTTTGGATGAAATCAAGAA	0.483																																						ENST00000318158.6			0	0																														0				12						c.(274-276)gaafs		glyoxylate reductase/hydroxypyruvate reductase							114.0	99.0	104.0					9																	37425978		2203	4300	6503	SO:0001589	frameshift_variant	9380	0	0					g.chr9:37425978delG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.274delG	chr9.hg19:g.37425978delG	ENSP00000313432:p.Glu92fs						GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Frame_Shift_Del_p.E92fs	p.E92fs	NM_012203.1	NP_036335.1					Q9UBQ7	GRHPR_HUMAN		3	359	+			Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Del	DEL	ENST00000318158.6	0	1	hg19	c.274delG	CCDS6609.1																																																																																											TCGA-YB-A89D-01A-12D-A36O-08	0.483	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	1	0	1		2	2		0	0	0	0	62	0	62	60	1	3.280000	-3.146461	1	0.240000	NM_012203		0	19	16	0	348	343	0	0	1	1		0	0	62	0	0	0.999989	9.998543e-01		2	0	264	0	19	348
TACC2	10579	broad.mit.edu	37	10	123976332	123976332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:123976332C>A	ENST00000369005.1	+	11	7875	c.7535C>A	c.(7534-7536)tCa>tAa	p.S2512*	TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2512					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAATTCAGTTCACCCACTGAG	0.562																																						ENST00000369005.1	0.400000	0.120000	3.200000e-01	1.700000e-01	0.230000	0.252176	0.230000	0.240000																										0				83						c.(7534-7536)tCa>tAa		transforming, acidic coiled-coil containing protein 2							133.0	112.0	119.0					10																	123976332		2203	4300	6503	SO:0001587	stop_gained	10579	0	0					g.chr10:123976332C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7535C>A	chr10.hg19:g.123976332C>A	ENSP00000358001:p.Ser2512*	0					TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*	p.S2512*	NM_206862.2	NP_996744.2	1	2	3	1.987911	O95359	TACC2_HUMAN		11	7875	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Nonsense_Mutation	SNP	ENST00000369005.1	0	1	hg19	c.7535C>A	CCDS7626.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.660008	0.98903	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.30356	N	0.009802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0877	19.7186	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	2512;658;2516;2467;2512;658;2516;2502;216;212;590;602;602;590;607;247;92	.	ENSP00000260733:S590X	S	+	2	0	0	TACC2	123966322	123966322	1.000000	0.71417	0.273000	0.24645	0.801000	0.45260	4.972000	0.63756	2.659000	0.90383	0.655000	0.94253	TCA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	1	2	2	2	2	0	0	0	0	93	93	93	93	1	3.280000	-3.393814	1	0.240000			0	11	11	0	429	425	0		1	0		0	0	93	0	0	0.998291	3.133931e-01	0	0	0	42	0	11	429
PFKP	5214	broad.mit.edu	37	10	3149495	3149495	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:3149495C>A	ENST00000381125.4	+	8	940	c.864C>A	c.(862-864)atC>atA	p.I288I	PFKP_ENST00000381075.2_Silent_p.I280I	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	288	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGAGAAAATCAAAGAGGTGA	0.458																																						ENST00000381125.4	0.400000	0.110000	3.200000e-01	1.600000e-01	0.230000	0.247906	0.230000	0.240000																										0				31						c.(862-864)atC>atA		phosphofructokinase, platelet							64.0	64.0	64.0					10																	3149495		2199	4300	6499	SO:0001819	synonymous_variant	5214	0	0					g.chr10:3149495C>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.864C>A	chr10.hg19:g.3149495C>A		0					PFKP_ENST00000381075.2_Silent_p.I280I	p.I288I	NM_002627.4	NP_002618.1	1	2	3	1.954405	Q01813	PFKAP_HUMAN		8	940	+			B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	0	1	hg19	c.864C>A	CCDS7059.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.458	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	0	0	1	2	2	2	2	0	0	0	0	79	79	79	77	1	3.280000	-9.609288	1	0.240000	NM_002627		0	10	10	0	400	398	0		1	0		0	0	79	0	0	0.996886	9.699477e-01	0	1	0	241	0	10	400
ARHGAP12	94134	broad.mit.edu	37	10	32101656	32101656	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:32101656G>T	ENST00000344936.2	-	15	2164	c.1930C>A	c.(1930-1932)Cgt>Agt	p.R644S	ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R614S|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R592S|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R639S|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R592S	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	644					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCTTTTTCACGAACAGCTTGC	0.313																																						ENST00000344936.2	0.520000	0.220000	4.400000e-01	2.800000e-01	0.350000	0.366954	0.350000	0.360000																										0				31						c.(1930-1932)Cgt>Agt		Rho GTPase activating protein 12							115.0	119.0	117.0					10																	32101656		2202	4300	6502	SO:0001583	missense	94134	1	121408	33				g.chr10:32101656G>T	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1930C>A	chr10.hg19:g.32101656G>T	ENSP00000345808:p.Arg644Ser	0					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R639S|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R592S|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R614S|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R592S	p.R644S	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	1	2	3	1.954405	Q8IWW6	RHG12_HUMAN		15	2164	-		Prostate(175;0.0199)	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	1	0	hg19	c.1930C>A	CCDS7170.1	0	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569314	0.86439	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.08458	3.15;3.09;3.13;3.12;3.15	5.74	4.79	0.61399	5.74	4.79	0.61399	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	M	0.73217	2.22	0.80722	D	1	P;D;D;D;D;D	0.60160	0.906;0.978;0.987;0.978;0.978;0.987	P;P;P;P;P;P	0.61201	0.518;0.77;0.885;0.77;0.77;0.885	T	0.00217	-1.1909	10	0.54805	T	0.06	.	15.5743	0.76362	0.0:0.0:0.8616:0.1384	.	597;614;614;639;644;592	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	S	592;614;644;639;592	ENSP00000310984:R592S;ENSP00000364399:R614S;ENSP00000345808:R644S;ENSP00000379448:R639S;ENSP00000364394:R592S	ENSP00000310984:R592S	R	-	1	0	0	ARHGAP12	32141662	32141662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.342000	0.59341	2.703000	0.92315	0.655000	0.94253	CGT	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.313	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1	1	0	1	2	2	2	2	0	0	0	0	75	75	75	75	1	3.280000	-2.874571	1	0.240000			0	20	20	0	510	503	0		1	0		0	0	75	0	0	0.999995	5.002353e-01	0	0	0	43	0	20	510
MKI67	4288	broad.mit.edu	37	10	129904176	129904176	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:129904176G>T	ENST00000368654.3	-	13	6303	c.5928C>A	c.(5926-5928)atC>atA	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATACTTCTGTGATTTTGTCAT	0.473																																						ENST00000368654.3	0.210000	0.070000	1.700000e-01	9.000000e-02	0.130000	0.138552	0.130000	0.120000																										0				159						c.(5926-5928)atC>atA		marker of proliferation Ki-67							193.0	198.0	196.0					10																	129904176		2203	4300	6503	SO:0001819	synonymous_variant	4288	0	0					g.chr10:129904176G>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5928C>A	chr10.hg19:g.129904176G>T		0					MKI67_ENST00000368653.3_Silent_p.I1616I	p.I1976I	NM_002417.4	NP_002408.3	1	2	3	1.958413	P46013	KI67_HUMAN		13	6303	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	Q5VWH2	Silent	SNP	ENST00000368654.3	0	1	hg19	c.5928C>A	CCDS7659.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	1	2	2	2	2	0	0	0	0	325	325	325	325	1	3.280000	-2.297757	0	0.240000	NM_002417		0	16	16	0	1125	1108	0		1	0		0	0	325	0	0	0.999921	1.381052e-02	0	0	0	12	0	16	1125
SPTY2D1	144108	broad.mit.edu	37	11	18636809	18636809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:18636809C>A	ENST00000336349.5	-	3	1247	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	338	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCTTTGTGCTCAACAGCAGAT	0.512																																						ENST00000336349.5	0.300000	0.110000	2.500000e-01	1.400000e-01	0.190000	0.202863	0.190000	0.190000																										0				30						c.(1012-1014)Gag>Tag		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							117.0	130.0	126.0					11																	18636809		2199	4293	6492	SO:0001587	stop_gained	144108	0	0					g.chr11:18636809C>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1012G>T	chr11.hg19:g.18636809C>A	ENSP00000337991:p.Glu338*	0					SPTY2D1_ENST00000543776.1_5'Flank	p.E338*	NM_194285.2	NP_919261.2	1	2	3	1.963000	Q68D10	SPT2_HUMAN		3	1247	-			Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	ENST00000336349.5	0	1	hg19	c.1012G>T	CCDS31441.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.326405	0.95708	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.272640	0.36815	N	0.002396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-18.4727	18.3021	0.90167	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000337991:E338X	E	-	1	0	0	SPTY2D1	18593385	18593385	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.734000	0.47368	2.762000	0.94881	0.563000	0.77884	GAG	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.512	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	0	0	1	2	2	2	2	0	0	0	0	200	200	200	200	1	3.280000	-2.156964	0	0.240000	NM_194285		0	17	15	0	807	801	0		1	0		0	0	200	0	0	0.999961	9.079752e-02	0	0	0	23	0	17	807
ANO3	63982	broad.mit.edu	37	11	26556101	26556101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:26556101C>A	ENST00000256737.3	+	9	1820	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGAATATCAAAAGTGGGT	0.318																																						ENST00000256737.3	0.320000	0.090000	2.500000e-01	1.300000e-01	0.180000	0.197004	0.180000	0.180000																										0				68						c.(967-969)tCa>tAa		anoctamin 3							78.0	78.0	78.0					11																	26556101		2203	4299	6502	SO:0001587	stop_gained	63982	0	0					g.chr11:26556101C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.968C>A	chr11.hg19:g.26556101C>A	ENSP00000256737:p.Ser323*	0					ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*	p.S323*	NM_031418.2	NP_113606.2	1	2	3	1.963000	Q9BYT9	ANO3_HUMAN		9	1820	+			B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	0	1	hg19	c.968C>A	CCDS31447.1	0	.	.	.	.	.	.	.	.	.	.	C	39	7.882011	0.98542	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.390504	0.26959	N	0.021623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.9596	0.89081	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;323;225;177	.	ENSP00000256737:S323X	S	+	2	0	0	ANO3	26512677	26512677	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.640000	0.61368	2.349000	0.79799	0.460000	0.39030	TCA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	0	0	1	2	2	2	2	0	0	0	0	82	82	82	82	1	3.280000	-2.794974	1	0.240000	NM_031418		0	10	10	0	507	503	0		1			0	0	82	0	0	0.996811	0	0	0	0	0	0	10	507
CTSC	1075	broad.mit.edu	37	11	88029368	88029368	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:88029368T>C	ENST00000227266.5	-	6	936	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	274					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGTTGGTTAGTATACGGA	0.448																																						ENST00000227266.5	1.000000	0.700000	1	8.200000e-01	0.940000	0.922797	0.940000	1.000000																										0				22						c.(820-822)ctA>ctG		cathepsin C							142.0	137.0	138.0					11																	88029368		2201	4299	6500	SO:0001819	synonymous_variant	1075	0	0					g.chr11:88029368T>C	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.822A>G	chr11.hg19:g.88029368T>C		0						p.L274L	NM_001814.4	NP_001805	1	2	3	1.963000	P53634	CATC_HUMAN		6	936	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	1	1	hg19	c.822A>G	CCDS8282.1	1																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.448	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	1	0	1	2	2	2	2	0	0	0	0	108	108	108	106	1	3.280000	-20.000000	1	0.240000	NM_001814		0	47	47	0	417	406	1		1	1		0	0	108	0	0	1.000000	1	0	33	0	360	0	47	417
PGR	5241	broad.mit.edu	37	11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	762	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CATCCTAGACCAAACACCATT	0.348																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5	0.160000	0.030000	1.300000e-01	5.000000e-02	0.080000	0.096135	0.080000	0.090000																										0				36						c.(2284-2286)Ggt>Tgt		progesterone receptor	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)						119.0	117.0	118.0					11																	100922228		2203	4300	6503	SO:0001583	missense	5241	0	0					g.chr11:100922228C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2284G>T	chr11.hg19:g.100922228C>A	ENSP00000325120:p.Gly762Cys	0					PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	p.G762C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	1	2	3	1.963000	P06401	PRGR_HUMAN		5	3737	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	0	1	hg19	c.2284G>T	CCDS8310.1	0	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616469	0.66672	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96619	-4.07;-4.07;-4.07	5.24	5.24	0.73138	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.119765	0.56097	D	0.000031	D	0.98052	0.9358	M	0.77406	2.37	0.27257	N	0.95872	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.969	D	0.94318	0.7551	10	0.66056	D	0.02	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	660;762;143	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	762;168;660;660	ENSP00000325120:G762C;ENSP00000436561:G168C;ENSP00000263463:G660C	ENSP00000263463:G660C	G	-	1	0	0	PGR	100427438	100427438	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.049000	0.57397	2.435000	0.82474	0.650000	0.86243	GGT	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	0	0	1	2	2	2	2	0	0	0	0	180	180	180	174	1	3.280000	-2.286708	0	0.240000			0	8	9	0	862	854	0		1	0		0	0	180	0	0	0.989027	1.182257e-04	0	0	0	2	0	8	862
UNG	7374	broad.mit.edu	37	12	109547720	109547720	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:109547720C>A	ENST00000242576.2	+	7	994	c.888C>A	c.(886-888)acC>acA	p.T296T	UNG_ENST00000336865.2_Silent_p.T287T|RP11-968O1.5_ENST00000541704.2_RNA	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTTCAAAGACCAATGAGCTGC	0.478								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													ENST00000242576.2	0.280000	0.080000	2.300000e-01	1.200000e-01	0.160000	0.178873	0.160000	0.160000																										0				9						c.(886-888)acC>acA	Base excision repair (BER), DNA glycosylases	uracil-DNA glycosylase							97.0	95.0	96.0					12																	109547720		2203	4300	6503	SO:0001819	synonymous_variant	7374	1	121412	32	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	g.chr12:109547720C>A	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.888C>A	chr12.hg19:g.109547720C>A		1					RP11-968O1.5_ENST00000541704.2_RNA|UNG_ENST00000336865.2_Silent_p.T287T	p.T296T	NM_080911.2	NP_550433.1	1	2	3	1.987213				7	994	+				Silent	SNP	ENST00000242576.2	0	1	hg19	c.888C>A	CCDS9124.1	0	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423234	0.25639	.	.	ENSG00000076248	ENST00000542183	.	.	.	5.82	4.02	0.46733	5.82	4.02	0.46733	.	.	.	.	.	T	0.60340	0.2261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61252	-0.7100	5	0.87932	D	0	-14.9663	4.4685	0.11701	0.2511:0.5308:0.0:0.2181	.	.	.	.	Q	50	.	ENSP00000438623:P50Q	P	+	2	0	0	UNG	108032103	108032103	0.609000	0.26975	1.000000	0.80357	0.961000	0.63080	-0.176000	0.09811	0.831000	0.34780	-0.219000	0.12488	CCA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.478	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	0	0	1	2	2	2	2	0	0	0	0	148	148	148	145	1	3.280000	-2.877963	1	0.240000	NM_080911		0	11	11	0	611	597	0		1	0		0	0	148	0	0	0.998112	2.225271e-01	0	0	0	46	0	11	611
GIT2	9815	broad.mit.edu	37	12	110421488	110421488	+	Silent	SNP	C	C	A	rs140917075		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:110421488C>A	ENST00000355312.3	-	5	416	c.417G>T	c.(415-417)tcG>tcT	p.S139S	GIT2_ENST00000457474.2_Silent_p.S139S|GIT2_ENST00000338373.5_Silent_p.S139S|GIT2_ENST00000360185.4_Silent_p.S139S|GIT2_ENST00000356259.4_Silent_p.S139S|GIT2_ENST00000551209.1_Silent_p.S139S|GIT2_ENST00000361006.5_Silent_p.S139S|GIT2_ENST00000547815.1_Silent_p.S139S|GIT2_ENST00000354574.4_Silent_p.S139S|GIT2_ENST00000320063.9_Silent_p.S139S|GIT2_ENST00000343646.5_Silent_p.S139S|TCHP_ENST00000550780.1_3'UTR|GIT2_ENST00000553118.1_Silent_p.S139S	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	139					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTCTCACGCTCGAATGGAGTT	0.393																																						ENST00000355312.3	0.720000	0.300000	6.100000e-01	3.800000e-01	0.490000	0.504324	0.490000	0.480000																										0				27						c.(415-417)tcG>tcT		G protein-coupled receptor kinase interacting ArfGAP 2							81.0	76.0	77.0					12																	110421488		2203	4300	6503	SO:0001819	synonymous_variant	9815	0	0					g.chr12:110421488C>A	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.417G>T	chr12.hg19:g.110421488C>A		1					GIT2_ENST00000551209.1_Silent_p.S139S|TCHP_ENST00000550780.1_3'UTR|GIT2_ENST00000356259.4_Silent_p.S139S|GIT2_ENST00000338373.5_Silent_p.S139S|GIT2_ENST00000360185.4_Silent_p.S139S|GIT2_ENST00000343646.5_Silent_p.S139S|GIT2_ENST00000354574.4_Silent_p.S139S|GIT2_ENST00000553118.1_Silent_p.S139S|GIT2_ENST00000547815.1_Silent_p.S139S|GIT2_ENST00000320063.9_Silent_p.S139S|GIT2_ENST00000361006.5_Silent_p.S139S|GIT2_ENST00000457474.2_Silent_p.S139S	p.S139S	NM_057169.3	NP_476510.1	1	2	3	1.987213	Q14161	GIT2_HUMAN		5	416	-			Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	1	0	hg19	c.417G>T	CCDS9138.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.393	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	1	0	1	2	2	2	2	0	0	0	0	78	78	78	78	1	3.280000	-2.745491	1	0.240000	NM_057169		0	19	18	0	347	344	0		1	0		0	0	78	0	0	0.999991	4.983643e-01	0	0	0	31	0	19	347
CAPZA3	93661	broad.mit.edu	37	12	18891447	18891447	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:18891447G>T	ENST00000317658.3	+	1	403	c.245G>T	c.(244-246)cGa>cTa	p.R82L	PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	82					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGCGACTACCGATTTTTTGAC	0.418																																						ENST00000317658.3	0.520000	0.180000	4.300000e-01	2.500000e-01	0.330000	0.345567	0.330000	0.330000																										0				19						c.(244-246)cGa>cTa		capping protein (actin filament) muscle Z-line, alpha 3							95.0	88.0	91.0					12																	18891447		2203	4300	6503	SO:0001583	missense	93661	0	0					g.chr12:18891447G>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.245G>T	chr12.hg19:g.18891447G>T	ENSP00000326238:p.Arg82Leu	1					PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	p.R82L	NM_033328.2	NP_201585.1	1	2	3	1.987213	Q96KX2	CAZA3_HUMAN		1	403	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	1	0	hg19	c.245G>T	CCDS8681.1	0	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413973	0.42817	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	4.39	0.52855	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000001	T	0.77725	0.4173	M	0.76727	2.345	0.49051	D	0.999749	D	0.89917	1.0	D	0.85130	0.997	T	0.80856	-0.1195	9	0.87932	D	0	-6.8684	13.8066	0.63236	0.0:0.0:1.0:0.0	.	82	Q96KX2	CAZA3_HUMAN	L	82	.	ENSP00000326238:R82L	R	+	2	0	0	CAPZA3	18782714	18782714	0.886000	0.30341	0.885000	0.34714	0.263000	0.26337	5.868000	0.69605	2.278000	0.76064	0.462000	0.41574	CGA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.418	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	1	0	1	2	2	2	2	0	0	0	0	96	96	96	95	1	3.280000	-2.898136	1	0.240000	NM_033328		0	14	12	0	387	378	0		1			0	0	96	0	0	0.999714	0	0	0	0	0	0	14	387
KRAS	3845	broad.mit.edu	37	12	25398284	25398285	+	Missense_Mutation	DNP	CC	CC	TG	rs121913530|rs121913529		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			C	T|G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398284_25398285CC>TG	ENST00000256078.4	-	2	97_98	c.34_35GG>CA	c.(34-36)GGt>CAt	p.G12H	KRAS_ENST00000311936.3_Missense_Mutation_p.G12H|KRAS_ENST00000557334.1_Missense_Mutation_p.G12H|KRAS_ENST00000556131.1_Missense_Mutation_p.G12H	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.G12C(3001)|p.G12A(1407)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(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)			GCCTACGCCACCAGCTCCAACT	0.347	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)|G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|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)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	0.290000|1.000000	0.050000|0.990000	2.200000e-01|1	9.000000e-02|9.900000e-01	0.140000|0.990000	0.160471|0.999999	0.140000|0.990000	0.150000|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)|G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	20892	Substitution - Missense(20889)|Insertion - In frame(2)|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)|p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(11786)|pancreas(3650)|lung(3132)|ovary(556)|biliary_tract(494)|endometrium(373)|haematopoietic_and_lymphoid_tissue(212)|stomach(145)|thyroid(97)|prostate(70)|small_intestine(56)|upper_aerodigestive_tract(47)|urinary_tract(47)|soft_tissue(42)|cervix(41)|skin(35)|liver(22)|breast(20)|testis(16)|oesophagus(11)|central_nervous_system(8)|peritoneum(6)|kidney(5)|eye(4)|NS(4)|autonomic_ganglia(3)|gastrointestinal_tract_(site_indeterminate)(3)|thymus(3)|penis(1)|adrenal_gland(1)|salivary_gland(1)|bone(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)gGt>gAt|c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog																																				SO:0001583	missense	3845	2|0	121404|0	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|g.chr12:25398285C>G	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.34_35delinsTG	chr12.hg19:g.25398284_25398285delinsTG	ENSP00000256078:p.Gly12His	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12D|p.G12R	NM_033360.2	NP_203524.1	1	2	3	1.987213	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|97	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0|1	1	hg19	c.35G>A|c.34G>C	CCDS8703.1	0|1																									5.68	5.68	0.88126																																												0			25289551|25289552														0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.347	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0|1	0	1	2|210	2|17	2|3	2	0	0|1	0|1	0|1	85	85	85	83	1	3.280000	-3.335946|-20.000000	1	0.240000	NM_033360		175|2046	6|70	6|70	7854|5983	397|331	393|327	0|1	1	1	0|1	1	0|1	0	85	308|305	1	0.964156|1.000000	7.864706e-02|8.313397e-01	8.764639e-01|1	0|14	3|43	26|11	248|209	6	331
STK38L	23012	broad.mit.edu	37	12	27461299	27461299	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:27461299C>A	ENST00000389032.3	+	4	383	c.214C>A	c.(214-216)Cgc>Agc	p.R72S	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACAACACGCTCGCAAAGAAAC	0.368																																						ENST00000389032.3	0.620000	0.320000	5.400000e-01	3.800000e-01	0.450000	0.468540	0.450000	0.450000																										0				12						c.(214-216)Cgc>Agc		serine/threonine kinase 38 like							90.0	93.0	92.0					12																	27461299		2203	4300	6503	SO:0001583	missense	23012	0	0					g.chr12:27461299C>A	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.214C>A	chr12.hg19:g.27461299C>A	ENSP00000373684:p.Arg72Ser	1					STK38L_ENST00000539577.1_Intron	p.R72S	NM_015000.3	NP_055815.1	1	2	3	1.987213				4	383	+	Colorectal(261;0.0847)			Missense_Mutation	SNP	ENST00000389032.3	1	0	hg19	c.214C>A	CCDS31761.1	0	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405421	0.62288	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T	0.49720	0.99;0.77;0.99;0.99;0.99	4.54	4.54	0.55810	4.54	4.54	0.55810	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.56199	1.76	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.46331	-0.9199	10	0.51188	T	0.08	.	17.29	0.87153	0.0:1.0:0.0:0.0	.	72	Q9Y2H1	ST38L_HUMAN	S	72	ENSP00000437856:R72S;ENSP00000373684:R72S;ENSP00000443838:R72S;ENSP00000442253:R72S;ENSP00000440279:R72S	ENSP00000373684:R72S	R	+	1	0	0	STK38L	27352566	27352566	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.515000	0.60489	2.257000	0.74773	0.460000	0.39030	CGC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.368	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	1	0	1	2	2	2	2	0	0	0	0	132	132	132	130	1	3.280000	-2.489183	0	0.240000	NM_015000		0	35	35	0	678	665	0		1	0		0	0	132	0	0	1.000000	8.695156e-01	0	0	0	72	0	35	678
RPAP3	79657	broad.mit.edu	37	12	48095372	48095372	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:48095372G>T	ENST00000005386.3	-	3	284	c.169C>A	c.(169-171)Cga>Aga	p.R57R	RPAP3_ENST00000432584.3_5'UTR|RPAP3_ENST00000380650.4_Silent_p.R57R	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	57										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TTCCCATTTCGAATAGGAGGT	0.308																																						ENST00000005386.3	0.530000	0.170000	4.300000e-01	2.400000e-01	0.320000	0.341656	0.320000	0.330000																										0				16						c.(169-171)Cga>Aga		RNA polymerase II associated protein 3							77.0	73.0	74.0					12																	48095372		2202	4299	6501	SO:0001819	synonymous_variant	79657	0	0					g.chr12:48095372G>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.169C>A	chr12.hg19:g.48095372G>T		1					RPAP3_ENST00000380650.4_Silent_p.R57R|RPAP3_ENST00000432584.3_5'UTR	p.R57R	NM_024604.2	NP_078880.2	1	2	3	1.987213	Q9H6T3	RPAP3_HUMAN		3	284	-	Lung SC(27;0.192)		B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	1	0	hg19	c.169C>A	CCDS8753.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.308	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	1	0	1	2	2	2	2	0	0	0	0	42	42	42	40	1	3.280000	-3.502636	1	0.240000	NM_024604		0	12	12	0	339	331	0		1	0		0	0	42	0	0	0.999044	1.818985e-01	0	0	0	21	0	12	339
RAP1B	5908	broad.mit.edu	37	12	69050210	69050210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:69050210C>A	ENST00000250559.9	+	6	680	c.449C>A	c.(448-450)tCa>tAa	p.S150*	RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	150					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCTGCAAAATCAAAAATAAAT	0.338																																						ENST00000250559.9	0.420000	0.150000	3.500000e-01	2.000000e-01	0.270000	0.283833	0.270000	0.270000																										0				12						c.(448-450)tCa>tAa		RAP1B, member of RAS oncogene family							126.0	132.0	130.0					12																	69050210		2202	4299	6501	SO:0001587	stop_gained	5908	0	0					g.chr12:69050210C>A		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.449C>A	chr12.hg19:g.69050210C>A	ENSP00000250559:p.Ser150*	1					RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*	p.S150*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	1	2	3	1.987213	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	6	680	+	Breast(13;1.24e-05)		B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Nonsense_Mutation	SNP	ENST00000250559.9	0	1	hg19	c.449C>A	CCDS8984.1	0	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817521	0.90790	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000541216	.	.	.	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.136637	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	.	.	.	X	150;150;150;150;150;108;99;84;84;131;84;108;103;150	.	.	S	+	2	0	0	RAP1B	67336477	67336477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	2.802000	0.96397	0.561000	0.74099	TCA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.338	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	0	0	1	2	2	2	2	0	0	0	0	119	119	119	140	1	3.280000	-2.940284	1	0.240000	NM_001010942		0	15	15	0	507	499	0		1	0		0	0	119	0	0	0.999859	8.537126e-01	0	0	0	119	0	15	507
CPSF6	11052	broad.mit.edu	37	12	69646912	69646912	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:69646912C>A	ENST00000435070.2	+	3	462	c.352C>A	c.(352-354)Cgg>Agg	p.R118R	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.R118R|CPSF6_ENST00000266679.8_Silent_p.R118R|CPSF6_ENST00000550987.1_3'UTR	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	118	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTTTGAAAATCGGGCAAATGG	0.323																																						ENST00000435070.2	0.690000	0.250000	5.700000e-01	3.300000e-01	0.440000	0.460319	0.440000	0.430000																										0				16						c.(352-354)Cgg>Agg		cleavage and polyadenylation specific factor 6, 68kDa							58.0	62.0	61.0					12																	69646912		2202	4298	6500	SO:0001819	synonymous_variant	11052	0	0					g.chr12:69646912C>A	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.352C>A	chr12.hg19:g.69646912C>A		1					CPSF6_ENST00000456847.3_Silent_p.R118R|CPSF6_ENST00000266679.8_Silent_p.R118R|CPSF6_ENST00000550987.1_3'UTR|CPSF6_ENST00000551516.1_Intron	p.R118R	NM_007007.2	NP_008938.2	1	2	3	1.987213	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)	3	462	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	ENST00000435070.2	1	0	hg19	c.352C>A	CCDS8988.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.323	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	1	0	1	2	2	2	2	0	0	0	0	60	60	60	60	1	3.280000	-4.415923	1	0.240000	NM_007007		0	14	14	0	286	287	0		1	0		0	0	60	0	0	0.999778	6.597680e-01	0	0	0	47	0	14	286
CCDC63	160762	broad.mit.edu	37	12	111336859	111336859	+	Silent	SNP	C	C	T	rs115748204	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:111336859C>T	ENST00000308208.5	+	10	1514	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_ENST00000545036.1_Silent_p.D384D|CCDC63_ENST00000552694.1_Silent_p.D345D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													C|||	12	0.00239617	0.0008	0.0	5008	,	,		19408	0.0		0.0	False		,,,				2504	0.0112					ENST00000308208.5	1.000000	0.770000	1	9.200000e-01	0.990000	0.971610	0.990000	1.000000																										0				39						c.(1270-1272)gaC>gaT		coiled-coil domain containing 63		C		1,4405	2.1+/-5.4	0,1,2202	100.0	89.0	93.0		1272	-4.7	0.8	12	dbSNP_132	93	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		424/564	111336859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	160762	61	121412	46				g.chr12:111336859C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1272C>T	chr12.hg19:g.111336859C>T		1					CCDC63_ENST00000545036.1_Silent_p.D384D|CCDC63_ENST00000552694.1_Silent_p.D345D	p.D424D	NM_152591.1	NP_689804.1	1	2	3	1.987213	Q8NA47	CCD63_HUMAN		10	1514	+			B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	1	1	hg19	c.1272C>T	CCDS9151.1	1																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.498	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	1	0	1	2	2	2	2	0	0	0	0	49	49	49	49	1	3.280000	-20.000000	1	0.240000	NM_152591		0	31	30	0	233	230	1		1			0	0	49	0	0	1.000000	0	0	0	0	0	0	31	233
FRY	10129	broad.mit.edu	37	13	32747655	32747655	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:32747655G>T	ENST00000380250.3	+	19	2799	c.2303G>T	c.(2302-2304)cGa>cTa	p.R768L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	768						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGGAAATTCGAGCGTTGTTT	0.413																																						ENST00000380250.3	0.560000	0.240000	4.800000e-01	3.100000e-01	0.380000	0.400396	0.380000	0.400000																										0				132						c.(2302-2304)cGa>cTa		furry homolog (Drosophila)							150.0	147.0	148.0					13																	32747655		1901	4115	6016	SO:0001583	missense	10129	0	0					g.chr13:32747655G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2303G>T	chr13.hg19:g.32747655G>T	ENSP00000369600:p.Arg768Leu	1						p.R768L	NM_023037.2	NP_075463.2	2	2	4	2.158430	Q5TBA9	FRY_HUMAN		19	2799	+		Lung SC(185;0.0271)	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	1	0	hg19	c.2303G>T	CCDS41875.1	0	.	.	.	.	.	.	.	.	.	.	G	27.1	4.795934	0.90453	.	.	ENSG00000073910	ENST00000380250	T	0.27720	1.65	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.59579	-0.7428	10	0.62326	D	0.03	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	768	Q5TBA9	FRY_HUMAN	L	768	ENSP00000369600:R768L	ENSP00000369600:R768L	R	+	2	0	0	FRY	31645655	31645655	1.000000	0.71417	0.999000	0.59377	0.651000	0.38670	9.402000	0.97298	2.708000	0.92522	0.650000	0.86243	CGA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1	2	2	2	2	0	0	0	0	113	113	113	112	1	3.280000	-3.030118	1	0.240000	NM_023037		0	22	20	0	568	562	0		1	0		0	0	113	0	0	0.999999	3.719397e-02	0	0	0	8	0	22	568
SUCLA2	8803	broad.mit.edu	37	13	48570988	48570988	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:48570988G>T	ENST00000378654.3	-	2	317	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	87	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTAATTTTTTGGCAATTGCAT	0.368																																						ENST00000378654.3	0.280000	0.060000	2.200000e-01	1.000000e-01	0.150000	0.168680	0.150000	0.160000																										0				15						c.(259-261)gcC>gcA		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						126.0	121.0	123.0					13																	48570988		2203	4300	6503	SO:0001819	synonymous_variant	8803	0	0					g.chr13:48570988G>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.261C>A	chr13.hg19:g.48570988G>T		1					SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.A29A	p.A87A	NM_003850.2	NP_003841.1	2	2	4	2.158430	Q9P2R7	SUCB1_HUMAN		2	317	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Silent	SNP	ENST00000378654.3	0	1	hg19	c.261C>A	CCDS9406.1	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.368	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1	0	0	1	2	2	2	2	0	0	0	0	104	104	104	103	1	3.280000	-3.022994	1	0.240000			0	9	9	0	600	596	0		1	0		0	0	104	0	0	0.994097	2.051197e-01	0	0	0	51	0	9	600
DDHD1	80821	broad.mit.edu	37	14	53518604	53518604	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:53518604G>T	ENST00000323669.5	-	12	2478	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	827	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCGGAAAAAGAAGTTGTGGG	0.343																																						ENST00000323669.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999989	0.990000	1.000000																										0				25						c.(2479-2481)Ctt>Att		DDHD domain containing 1							80.0	70.0	73.0					14																	53518604		1566	3579	5145	SO:0001583	missense	80821	1	119994	24				g.chr14:53518604G>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2479C>A	chr14.hg19:g.53518604G>T	ENSP00000327104:p.Leu827Ile	1					DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron	p.L827I	NM_001160148.1	NP_001153620.1	2	2	4	2.116095	Q8NEL9	DDHD1_HUMAN		12	2478	-	Breast(41;0.037)		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	1	1	hg19	c.2479C>A	CCDS53895.1	1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135008	0.56828	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	5.19	0.71726	6.07	5.19	0.71726	DDHD (2);	0.301493	0.30969	N	0.008510	T	0.36413	0.0966	N	0.08118	0	0.80722	D	1	P	0.38048	0.616	B	0.42738	0.396	T	0.28138	-1.0053	9	0.31617	T	0.26	-10.4012	11.0964	0.48147	0.084:0.0:0.916:0.0	.	827	Q8NEL9	DDHD1_HUMAN	I	827;698	.	ENSP00000327104:L827I	L	-	1	0	0	DDHD1	52588354	52588354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.931000	0.48932	1.582000	0.49881	0.655000	0.94253	CTT	0.378679		TCGA-YB-A89D-01A-12D-A36O-08	0.343	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	1	2	2	2	2	0	0	0	0	19	19	19	19	1	3.280000	-20.000000	1	0.240000			0	18	17	0	58	57	1		1	0		0	0	19	0	0	0.999991	6.697109e-01	0	1	0	8	0	18	58
LTBP2	4053	broad.mit.edu	37	14	75052666	75052666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:75052666C>A	ENST00000261978.4	-	3	1107	c.721G>T	c.(721-723)Gag>Tag	p.E241*	LTBP2_ENST00000556690.1_Nonsense_Mutation_p.E241*|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	241	Heparin-binding.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGAACGCTCGGCCCAGCGT	0.672																																						ENST00000261978.4	1.000000	0.490000	1	6.900000e-01	0.960000	0.880017	0.960000	1.000000																										0				58						c.(721-723)Gag>Tag		latent transforming growth factor beta binding protein 2							34.0	35.0	35.0					14																	75052666		2201	4299	6500	SO:0001587	stop_gained	4053	0	0					g.chr14:75052666C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.721G>T	chr14.hg19:g.75052666C>A	ENSP00000261978:p.Glu241*	1					LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Nonsense_Mutation_p.E241*	p.E241*	NM_000428.2	NP_000419.1	2	2	4	2.116095	Q14767	LTBP2_HUMAN		3	1107	-			Q99907|Q9NS51	Nonsense_Mutation	SNP	ENST00000261978.4	0	0	hg19	c.721G>T	CCDS9831.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.538623	0.97646	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	.	.	.	5.41	2.53	0.30540	5.41	2.53	0.30540	.	0.196421	0.25750	N	0.028553	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.074	0.48021	0.1337:0.4776:0.3887:0.0	.	.	.	.	X	241	.	ENSP00000261978:E241X	E	-	1	0	0	LTBP2	74122419	74122419	0.000000	0.05858	0.008000	0.14137	0.056000	0.15407	0.464000	0.21988	0.237000	0.21200	-0.302000	0.09304	GAG	0.378679		TCGA-YB-A89D-01A-12D-A36O-08	0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	1	0	1	2	2	2	2	0	0	0	0	18	18	18	18	1	3.280000	-15.538530	1	0.240000	NM_000428		0	10	9	0	102	100	1		1	0		0	0	18	0	0	0.996910	9.995907e-01	0	0	0	155	0	10	102
BTBD7	55727	broad.mit.edu	37	14	93761126	93761126	+	Silent	SNP	G	G	T	rs146080654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:93761126G>T	ENST00000334746.5	-	3	547	c.240C>A	c.(238-240)gcC>gcA	p.A80A	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000555525.1_Silent_p.A80A|BTBD7_ENST00000298896.3_Silent_p.A80A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	80					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGCATGATCGGCAGACCTAT	0.448																																						ENST00000334746.5	1.000000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.197215	0.140000	0.150000																										0				35						c.(238-240)gcC>gcA		BTB (POZ) domain containing 7							138.0	141.0	140.0					14																	93761126		2203	4300	6503	SO:0001819	synonymous_variant	55727	0	0					g.chr14:93761126G>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.240C>A	chr14.hg19:g.93761126G>T		1					BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Silent_p.A80A|BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000393170.2_5'Flank	p.A80A	NM_001002860.2	NP_001002860.2	2	2	4	2.116702	Q9P203	BTBD7_HUMAN		3	547	-		all_cancers(154;0.08)	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	0	1	hg19	c.240C>A	CCDS32146.1	0																																																																																								0.378679		TCGA-YB-A89D-01A-12D-A36O-08	0.448	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	0	0	1	2	2	2	2	0	0	0	0	243	243	243	243	1	3.280000	-1.827653	0	0.240000	NM_001002860		0	14	10	0	1003	988	0		1	0		0	0	243	0	0	0.999713	2.295539e-04	0	0	0	2	0	14	1003
ATP10A	57194	broad.mit.edu	37	15	25928570	25928570	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25928570C>G	ENST00000356865.6	-	17	3466	c.3355G>C	c.(3355-3357)Gac>Cac	p.D1119H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1119					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACCACTGGTCAATCATGGTA	0.502																																						ENST00000356865.6	1.000000	0.100000	5.200000e-01	1.700000e-01	0.280000	0.374983	0.280000	0.250000																										0				103						c.(3355-3357)Gac>Cac		ATPase, class V, type 10A							83.0	81.0	81.0					15																	25928570		2203	4300	6503	SO:0001583	missense	57194	0	0					g.chr15:25928570C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3355G>C	chr15.hg19:g.25928570C>G	ENSP00000349325:p.Asp1119His	0						p.D1119H	NM_024490.3	NP_077816.1	2	2	4	2.075635	O60312	AT10A_HUMAN		17	3466	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	0	1	hg19	c.3355G>C	CCDS32178.1	0	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693762	0.88735	.	.	ENSG00000206190	ENST00000356865	T	0.42131	0.98	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83740	0.0203	10	0.87932	D	0	-36.8332	17.8828	0.88845	0.0:1.0:0.0:0.0	.	1119	O60312	AT10A_HUMAN	H	1119	ENSP00000349325:D1119H	ENSP00000349325:D1119H	D	-	1	0	0	ATP10A	23479663	23479663	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.511000	0.81718	2.205000	0.71048	0.655000	0.94253	GAC	0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	0	0	0	2	2	2	2	0	0	0	0	27	27	27	25	1	3.280000	-6.952168	1	0.240000	NM_024490		0	5	2	0	202	201	0		1	0		0	0	27	0	0	0.935072	9.840360e-02	0	0	0	18	0	5	202
ARHGAP11A	9824	broad.mit.edu	37	15	32928050	32928050	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:32928050C>A	ENST00000361627.3	+	11	2139	c.1417C>A	c.(1417-1419)Cga>Aga	p.R473R	ARHGAP11A_ENST00000565905.1_Silent_p.R284R|ARHGAP11A_ENST00000563864.1_Silent_p.R445R|ARHGAP11A_ENST00000567348.1_Silent_p.R473R|ARHGAP11A_ENST00000543522.1_Silent_p.R284R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	473					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R473*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTAAAAAATCGAATTGAATC	0.313																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3	1.000000	0.360000	8.100000e-01	4.600000e-01	0.580000	0.631092	0.580000	0.560000																										1	Substitution - Nonsense(1)	p.R473*(1)	large_intestine(1)	31						c.(1417-1419)Cga>Aga		Rho GTPase activating protein 11A							68.0	67.0	67.0					15																	32928050		2201	4298	6499	SO:0001819	synonymous_variant	9824	0	0					g.chr15:32928050C>A	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1417C>A	chr15.hg19:g.32928050C>A		0					ARHGAP11A_ENST00000567348.1_Silent_p.R473R|ARHGAP11A_ENST00000543522.1_Silent_p.R284R|ARHGAP11A_ENST00000565905.1_Silent_p.R284R|ARHGAP11A_ENST00000563864.1_Silent_p.R445R	p.R473R	NM_014783.3	NP_055598.1	2	2	4	2.075635	Q6P4F7	RHGBA_HUMAN		11	2139	+		all_lung(180;1.3e-11)	B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	1	0	hg19	c.1417C>A	CCDS10028.1	0																																																																																								0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.313	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	1	0	0	2	2	2	2	0	0	0	0	55	55	55	55	1	3.280000	-5.485584	1	0.240000	NM_014783		0	20	20	0	340	337	0		1	0		0	0	55	0	0	0.999995	9.429507e-02	0	0	0	9	0	20	340
HEXA	3073	broad.mit.edu	37	15	72643552	72643552	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72643552C>A	ENST00000268097.5	-	6	1097	c.594G>T	c.(592-594)ttG>ttT	p.L198F	HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	198					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGAACACGTTCAATTTATTGT	0.473																																						ENST00000268097.5	0.510000	0.120000	3.800000e-01	1.900000e-01	0.270000	0.292441	0.270000	0.260000																										0				24						c.(592-594)ttG>ttT		hexosaminidase A (alpha polypeptide)							161.0	136.0	144.0					15																	72643552		2199	4297	6496	SO:0001583	missense	3073	0	0					g.chr15:72643552C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.594G>T	chr15.hg19:g.72643552C>A	ENSP00000268097:p.Leu198Phe	1					HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA	p.L198F	NM_000520.4	NP_000511.2	2	2	4	2.131181	P06865	HEXA_HUMAN		6	1097	-			B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	0	1	hg19	c.594G>T	CCDS10243.1	0	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755942	0.49362	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96913	-4.17;-4.17;-4.17	5.78	3.88	0.44766	5.78	3.88	0.44766	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.228413	0.45361	N	0.000368	D	0.86752	0.6008	N	0.04669	-0.19	0.38384	D	0.945222	B;B;B;B;B	0.15719	0.014;0.001;0.014;0.006;0.002	B;B;B;B;B	0.22152	0.038;0.019;0.038;0.023;0.018	T	0.77789	-0.2456	10	0.07482	T	0.82	-10.1601	5.9301	0.19134	0.0715:0.2888:0.5184:0.1213	.	25;209;25;78;198	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	F	198;6;25	ENSP00000268097:L198F;ENSP00000398026:L6F;ENSP00000416187:L25F	ENSP00000268097:L198F	L	-	3	2	2	HEXA	70430606	70430606	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	0.207000	0.17395	0.750000	0.32877	0.655000	0.94253	TTG	0.384715		TCGA-YB-A89D-01A-12D-A36O-08	0.473	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	0	0	1	2	2	2	2	0	0	0	0	64	64	64	63	1	3.280000	-3.754876	1	0.240000	NM_000520		0	9	9	0	348	344	0		1	0		0	0	64	0	0	0.994065	9.376395e-01	0	0	0	189	0	9	348
ORAI3	93129	broad.mit.edu	37	16	30960680	30960680	+	Missense_Mutation	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30960680T>G	ENST00000318663.4	+	1	294	c.70T>G	c.(70-72)Tcg>Gcg	p.S24A	ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	24					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCCTGCAGGCTCGGCCACGTA	0.736																																						ENST00000318663.4	1.000000	0.990000	1	9.900000e-01	0.990000	0.999501	0.990000	1.000000																										0				6						c.(70-72)Tcg>Gcg		ORAI calcium release-activated calcium modulator 3							5.0	7.0	6.0					16																	30960680		1997	4021	6018	SO:0001583	missense	93129	0	0					g.chr16:30960680T>G	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.70T>G	chr16.hg19:g.30960680T>G	ENSP00000322249:p.Ser24Ala	1					ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A|ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|AC135048.13_ENST00000566056.1_RNA	p.S24A	NM_152288.2	NP_689501.1	2	2	4	2.140938	Q9BRQ5	ORAI3_HUMAN		1	294	+			Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	0	1	hg19	c.70T>G	CCDS10697.1	1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385910	0.42308	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.30981	1.51	5.34	4.22	0.49857	5.34	4.22	0.49857	.	0.000000	0.43416	D	0.000562	T	0.15609	0.0376	N	0.19112	0.55	0.29807	N	0.831965	B	0.16603	0.018	B	0.16722	0.016	T	0.24404	-1.0161	10	0.10902	T	0.67	-5.3366	5.6272	0.17488	0.1518:0.0818:0.0:0.7664	.	24	Q9BRQ5	ORAI3_HUMAN	A	24	ENSP00000322249:S24A	ENSP00000322249:S24A	S	+	1	0	0	ORAI3	30868181	30868181	0.003000	0.15002	0.999000	0.59377	0.858000	0.48976	0.638000	0.24674	0.816000	0.34421	0.402000	0.26972	TCG	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.736	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	0	0	1	2	2	2	2	0	0	0	0	9	9	9	8	1	3.280000	-19.813890	1	0.240000	NM_152288		0	7	6	0	18	18	0		1	1		0	0	9	0	0	0.983788	9.776433e-01	0	8	0	14	0	7	18
ABCC12	94160	broad.mit.edu	37	16	48149365	48149365	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:48149365G>T	ENST00000311303.3	-	13	2295	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L	ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S626*|ABCC12_ENST00000448542.1_Silent_p.L650L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	650	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTTCCCCTGAGCGTCTTCT	0.607																																						ENST00000311303.3	0.300000	0.090000	2.400000e-01	1.300000e-01	0.170000	0.188784	0.170000	0.170000																										0				90						c.(1948-1950)ctC>ctA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							193.0	177.0	182.0					16																	48149365		2201	4300	6501	SO:0001819	synonymous_variant	94160	0	0					g.chr16:48149365G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1950C>A	chr16.hg19:g.48149365G>T		1					ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S626*	p.L650L	NM_033226.2	NP_150229.2	2	2	4	2.140938	Q96J65	MRP9_HUMAN		13	2295	-		all_cancers(37;0.0474)|all_lung(18;0.047)	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	0	1	hg19	c.1950C>A	CCDS10730.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.711257	0.96821	.	.	ENSG00000140798	ENST00000416054	.	.	.	5.24	0.714	0.18180	5.24	0.714	0.18180	.	.	.	.	.	.	.	.	.	.	.	0.47123	A	0.999322	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.794	0.03057	0.2309:0.2487:0.3932:0.1272	.	.	.	.	X	626	.	ENSP00000413046:S626X	S	-	2	0	0	ABCC12	46706866	46706866	0.000000	0.05858	0.903000	0.35520	0.535000	0.34838	-0.463000	0.06696	0.286000	0.22352	0.467000	0.42956	TCA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.607	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	0	1	2	2	2	2	0	0	0	0	149	149	149	147	1	3.280000	-2.437183	0	0.240000	NM_033226		0	12	11	0	696	689	0		1			0	0	149	0	0	0.999057	0	0	0	0	0	0	12	696
DRC7	84229	broad.mit.edu	37	16	57765164	57765164	+	Missense_Mutation	SNP	C	C	A	rs147283561		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:57765164C>A	ENST00000360716.3	+	19	2840	c.2619C>A	c.(2617-2619)ttC>ttA	p.F873L	CCDC135_ENST00000336825.8_Missense_Mutation_p.F808L|CCDC135_ENST00000394337.4_Missense_Mutation_p.F873L			Q8IY82	CC135_HUMAN		873					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGAAAATATTCGCTTGATGTC	0.567																																						ENST00000360716.3	0.670000	0.200000	5.400000e-01	2.900000e-01	0.400000	0.418509	0.400000	0.390000																										0				30						c.(2617-2619)ttC>ttA									46.0	55.0	52.0					16																	57765164		2197	4300	6497	SO:0001583	missense	0	0	0					g.chr16:57765164C>A																												ENST00000360716.3:c.2619C>A	chr16.hg19:g.57765164C>A	ENSP00000353942:p.Phe873Leu	1					CCDC135_ENST00000336825.8_Missense_Mutation_p.F808L|CCDC135_ENST00000394337.4_Missense_Mutation_p.F873L	p.F873L			2	2	4	2.150367	Q8IY82	CC135_HUMAN		19	2840	+			A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	1	0	hg19	c.2619C>A	CCDS10787.1	0	.	.	.	.	.	.	.	.	.	.	c	12.41	1.930949	0.34096	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.09723	3.1;2.95;3.1	5.06	-0.957	0.10350	5.06	-0.957	0.10350	.	0.227351	0.36665	N	0.002467	T	0.08626	0.0214	L	0.41236	1.265	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.20577	0.03;0.03	T	0.21793	-1.0235	10	0.87932	D	0	-3.8298	8.998	0.36063	0.0:0.5145:0.0:0.4855	.	808;873	Q8IY82-2;Q8IY82	.;CC135_HUMAN	L	873;808;873	ENSP00000377869:F873L;ENSP00000338938:F808L;ENSP00000353942:F873L	ENSP00000338938:F808L	F	+	3	2	2	CCDC135	56322665	56322665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.195000	0.03043	-0.511000	0.06514	-0.503000	0.04515	TTC	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2	1	0	1	2	2	2	2	0	0	0	0	43	43	43	42	1	3.280000	-11.236540	1	0.240000			0	10	10	0	258	254	0		1	0		0	0	43	0	0	0.996797	0	0	0	0	1	0	10	258
NAE1	8883	broad.mit.edu	37	16	66842917	66842917	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:66842917C>A	ENST00000290810.3	-	16	1309	c.1212G>T	c.(1210-1212)ttG>ttT	p.L404F	NAE1_ENST00000379463.2_Missense_Mutation_p.L398F|NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	404					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TAATTGTATCCAAACCATATT	0.308																																						ENST00000290810.3	0.280000	0.060000	2.200000e-01	1.000000e-01	0.150000	0.163568	0.150000	0.160000																										0				18						c.(1210-1212)ttG>ttT		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						88.0	83.0	84.0					16																	66842917		2200	4300	6500	SO:0001583	missense	8883	0	0					g.chr16:66842917C>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1212G>T	chr16.hg19:g.66842917C>A	ENSP00000290810:p.Leu404Phe	1					NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000379463.2_Missense_Mutation_p.L398F	p.L404F			2	2	4	2.150367	Q13564	ULA1_HUMAN		16	1309	-		Ovarian(137;0.0563)	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	0	1	hg19	c.1212G>T	CCDS10820.1	0	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753914	0.31046	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.14	3.2	0.36748	5.14	3.2	0.36748	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.074073	0.56097	D	0.000034	T	0.31482	0.0798	N	0.25647	0.755	0.48975	D	0.999734	B;B;B	0.25609	0.002;0.065;0.13	B;B;B	0.23716	0.004;0.041;0.048	T	0.13791	-1.0496	10	0.51188	T	0.08	-11.51	7.5134	0.27587	0.0:0.7108:0.0:0.2892	.	407;404;398	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	F	407;404;398;315	ENSP00000351990:L407F;ENSP00000290810:L404F;ENSP00000368776:L398F;ENSP00000377637:L315F	ENSP00000290810:L404F	L	-	3	2	2	NAE1	65400418	65400418	0.997000	0.39634	0.983000	0.44433	0.906000	0.53458	0.839000	0.27586	1.167000	0.42706	0.650000	0.86243	TTG	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	0	0	1	2	2	2	2	0	0	0	0	60	60	60	59	1	3.280000	-3.143328	1	0.240000	NM_003905		0	8	8	0	557	552	0		1	0		0	0	60	0	0	0.989062	5.752158e-01	0	0	0	128	0	8	557
NFATC3	4775	broad.mit.edu	37	16	68208395	68208395	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:68208395C>A	ENST00000346183.3	+	6	1917	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	NFATC3_ENST00000349223.5_Silent_p.I631I|NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	631					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AATCCAAAATCATTTTTCTTG	0.318																																						ENST00000346183.3	0.300000	0.090000	2.400000e-01	1.400000e-01	0.180000	0.195760	0.180000	0.200000																										0				44						c.(1891-1893)atC>atA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							122.0	130.0	127.0					16																	68208395		2198	4300	6498	SO:0001819	synonymous_variant	4775	0	0					g.chr16:68208395C>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1893C>A	chr16.hg19:g.68208395C>A		1					NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000349223.5_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I	p.I631I	NM_173165.2	NP_775188.1	2	2	4	2.150367	Q12968	NFAC3_HUMAN		6	1917	+		Ovarian(137;0.0563)	O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	0	1	hg19	c.1893C>A	CCDS10860.1	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.318	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	0	0	1	2	2	2	2	0	0	0	0	160	160	160	156	1	3.280000	-2.567233	1	0.240000	NM_004555		0	15	15	0	826	815	0		1	0		0	0	160	0	0	0.999855	9.785164e-03	0	0	0	8	0	15	826
MLKL	197259	broad.mit.edu	37	16	74719433	74719433	+	Missense_Mutation	SNP	G	G	T	rs568554020		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:74719433G>T	ENST00000308807.7	-	5	1234	c.771C>A	c.(769-771)ttC>ttA	p.F257L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGGGAGATTCGAATTTCTTCA	0.398																																						ENST00000308807.7	0.690000	0.280000	5.800000e-01	3.600000e-01	0.460000	0.478177	0.460000	0.450000																										0				19						c.(769-771)ttC>ttA		mixed lineage kinase domain-like							141.0	124.0	130.0					16																	74719433		2198	4300	6498	SO:0001583	missense	197259	1	121410	40				g.chr16:74719433G>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.771C>A	chr16.hg19:g.74719433G>T	ENSP00000308351:p.Phe257Leu	1					MLKL_ENST00000306247.7_Intron	p.F257L	NM_152649.2	NP_689862.1	2	2	4	2.150367				5	1234	-				Missense_Mutation	SNP	ENST00000308807.7	1	0	hg19	c.771C>A	CCDS32487.1	0	.	.	.	.	.	.	.	.	.	.	G	7.777	0.708709	0.15239	.	.	ENSG00000168404	ENST00000308807	D	0.90676	-2.71	4.58	0.971	0.19698	4.58	0.971	0.19698	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053881	0.85682	D	0.000000	D	0.82360	0.5020	N	0.16307	0.4	0.31299	N	0.688554	P	0.35456	0.502	P	0.45577	0.486	T	0.75436	-0.3318	10	0.09843	T	0.71	-14.296	6.3918	0.21591	0.6871:0.0:0.3129:0.0	.	257	Q8NB16	MLKL_HUMAN	L	257	ENSP00000308351:F257L	ENSP00000308351:F257L	F	-	3	2	2	MLKL	73276934	73276934	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	1.637000	0.37155	0.287000	0.22375	-0.355000	0.07637	TTC	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.398	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	1	0	1	2	2	2	2	0	0	0	0	78	78	78	76	1	3.280000	-4.604542	1	0.240000	NM_152649		0	18	18	0	389	385	0		1	0		0	0	78	0	0	0.999981	6.089327e-01	0	0	0	45	0	18	389
CNTNAP1	8506	broad.mit.edu	37	17	40837398	40837398	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:40837398C>A	ENST00000264638.4	+	5	892	c.675C>A	c.(673-675)ctC>ctA	p.L225L	CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	225	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACGTGACGCTCGAGCTGGAGG	0.662																																						ENST00000264638.4	1.000000	0.390000	9.000000e-01	5.200000e-01	0.690000	0.708502	0.690000	1.000000																										0				49						c.(673-675)ctC>ctA		contactin associated protein 1							61.0	54.0	57.0					17																	40837398		2203	4300	6503	SO:0001819	synonymous_variant	8506	0	0					g.chr17:40837398C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.675C>A	chr17.hg19:g.40837398C>A		1					CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	p.L225L	NM_003632.2	NP_003623.1	2	2	4	2.138905	P78357	CNTP1_HUMAN		5	892	+		Breast(137;0.000143)		Silent	SNP	ENST00000264638.4	1	0	hg19	c.675C>A	CCDS11436.1	0																																																																																								0.385908		TCGA-YB-A89D-01A-12D-A36O-08	0.662	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	1	0	0	2	2	2	2	0	0	0	0	49	49	49	46	1	3.280000	-16.812820	1	0.240000	NM_003632		0	13	13	0	185	181	0		1	0		0	0	49	0	0	0.999529	1.291590e-01	0	1	0	8	0	13	185
TRIM25	7706	broad.mit.edu	37	17	54972919	54972919	+	Silent	SNP	C	C	A	rs145816750	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:54972919C>A	ENST00000316881.4	-	7	1276	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	TRIM25_ENST00000537230.1_Silent_p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	409	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTAACTGTTCCGGGGCTCCAA	0.517																																						ENST00000316881.4	1.000000	0.070000	2.200000e-01	1.000000e-01	0.150000	0.223489	0.150000	0.140000																										0				21						c.(1225-1227)ccG>ccT		tripartite motif containing 25							129.0	131.0	130.0					17																	54972919		2203	4300	6503	SO:0001819	synonymous_variant	7706	0	0					g.chr17:54972919C>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1227G>T	chr17.hg19:g.54972919C>A		1					TRIM25_ENST00000537230.1_Silent_p.P409P	p.P409P	NM_005082.4	NP_005073.2	0	3	3	1.889409	Q14258	TRI25_HUMAN		7	1276	-	Breast(9;6.15e-08)			Silent	SNP	ENST00000316881.4	0	1	hg19	c.1227G>T	CCDS11591.1	0																																																																																								0.314079		TCGA-YB-A89D-01A-12D-A36O-08	0.517	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	0	0	1	2	2	2	2	0	0	0	0	142	142	142	141	1	3.280000	-1.937952	0	0.240000	NM_005082		0	11	11	0	699	688	0		1	0		0	0	142	0	0	0.998194	2.719812e-02	0	0	0	15	0	11	699
NACA2	342538	broad.mit.edu	37	17	59668349	59668349	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:59668349C>A	ENST00000521764.1	-	1	214	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGCTTTACCGACTGGTTCT	0.483																																						ENST00000521764.1	1.000000	0.070000	2.100000e-01	1.000000e-01	0.140000	0.219665	0.140000	0.140000																										0				12						c.(193-195)Ggt>Tgt		nascent polypeptide-associated complex alpha subunit 2							188.0	171.0	177.0					17																	59668349		2203	4300	6503	SO:0001583	missense	342538	0	0					g.chr17:59668349C>A	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.193G>T	chr17.hg19:g.59668349C>A	ENSP00000427802:p.Gly65Cys	1						p.G65C	NM_199290.3	NP_954984.1	0	3	3	1.889409	Q9H009	NACA2_HUMAN		1	214	-	all_epithelial(1;3.12e-14)		Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	0	1	hg19	c.193G>T	CCDS11630.1	0	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508495	0.44660	.	.	ENSG00000253506	ENST00000521764	T	0.45276	0.9	0.753	-0.473	0.12112	0.753	-0.473	0.12112	.	0.000000	0.85682	U	0.000000	T	0.16896	0.0406	N	0.08118	0	0.21220	N	0.999753	B	0.24317	0.101	B	0.24269	0.052	T	0.19321	-1.0309	9	.	.	.	.	5.1442	0.14975	0.0:0.4225:0.0:0.5775	.	65	Q9H009	NACA2_HUMAN	C	65	ENSP00000427802:G65C	.	G	-	1	0	0	NACA2	57023131	57023131	1.000000	0.71417	0.972000	0.41901	0.763000	0.43281	2.566000	0.45948	-0.880000	0.03997	-0.684000	0.03749	GGT	0.314079		TCGA-YB-A89D-01A-12D-A36O-08	0.483	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	0	0	1	2	2	2	2	0	0	0	0	219	219	219	214	1	3.280000	-1.801669	0	0.240000	NM_199290		0	13	16	0	839	823	0		1			0	0	219	0	0	0.999480	0	0	0	0	0	0	13	839
SMAD7	4092	broad.mit.edu	37	18	46448072	46448072	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:46448072G>T	ENST00000262158.2	-	4	1237	c.951C>A	c.(949-951)atC>atA	p.I317I	SMAD7_ENST00000589634.1_Silent_p.I316I|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Silent_p.I102I	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	317	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGCCGCAGCCGATTTTGCTCC	0.557																																						ENST00000262158.2	0.750000	0.240000	6.000000e-01	3.400000e-01	0.450000	0.477882	0.450000	0.440000																										0				10						c.(949-951)atC>atA		SMAD family member 7							74.0	54.0	61.0					18																	46448072		2203	4300	6503	SO:0001819	synonymous_variant	4092	6	121412	36				g.chr18:46448072G>T	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.951C>A	chr18.hg19:g.46448072G>T		1					SMAD7_ENST00000591805.1_Silent_p.I102I|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.I316I	p.I317I	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	0	2	2	1.733478	O15105	SMAD7_HUMAN		4	1237	-	Colorectal(1;0.0518)		B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	1	0	hg19	c.951C>A	CCDS11936.1	0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.557	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	1	0	0	2	2	2	2	0	0	0	0	48	48	48	47	1	3.280000	-13.918180	1	0.240000	NM_005904		0	11	11	0	193	188	0		1	0		0	0	48	0	0	0.998245	9.291597e-01	0	0	0	83	0	11	193
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179.0	149.0	159.0					18																	48591918		2203	4300	6503	SO:0001583	missense	4089	0	0					g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	chr18.hg19:g.48591918C>T	ENSP00000341551:p.Arg361Cys	1					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	0	2	2	1.733478	Q13485	SMAD4_HUMAN		9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Missense_Mutation	SNP	ENST00000342988.3	1	1	hg19	c.1081C>T	CCDS11950.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	0	SMAD4	46845916	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	2	2	2	2	0	0	0	0	97	97	97	96	1	3.280000	-4.091014	1	0.240000	NM_005359		0	82	78	0	287	284	1		1	1	1	0	0	97	801	0	1.000000	9.999875e-01	1	15	122	46	376	82	287
ARHGAP35	2909	broad.mit.edu	37	19	47424922	47424922	+	Missense_Mutation	SNP	G	G	T	rs371941437		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:47424922G>T	ENST00000404338.3	+	1	2990	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R997Q(1)									AGCCTGTTTCGAGAAGACACA	0.478																																						ENST00000404338.3	0.440000	0.100000	3.200000e-01	1.600000e-01	0.230000	0.250976	0.230000	0.230000																										1	Substitution - Missense(1)	p.R997Q(1)	large_intestine(1)							c.(2989-2991)cGa>cTa		Rho GTPase activating protein 35							64.0	63.0	63.0					19																	47424922		1937	4149	6086	SO:0001583	missense	2909	0	0					g.chr19:47424922G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2990G>T	chr19.hg19:g.47424922G>T	ENSP00000385720:p.Arg997Leu	1						p.R997L	NM_004491.4	NP_004482.4	2	2	4	2.130821	Q9NRY4	RHG35_HUMAN		1	2990	+			A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	0	1	hg19	c.2990G>T	CCDS46127.1	0	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889137	0.52014	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08370	3.1	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.061993	0.64402	D	0.000005	T	0.11239	0.0274	L	0.43152	1.355	0.43678	D	0.996117	P	0.41624	0.757	P	0.47299	0.543	T	0.17531	-1.0366	10	0.11794	T	0.64	-7.3842	12.1257	0.53915	0.0796:0.0:0.9204:0.0	.	997	Q9NRY4-2	.	L	997	ENSP00000385720:R997L	ENSP00000324820:R997L	R	+	2	0	0	ARHGAP35	52116762	52116762	0.993000	0.37304	0.999000	0.59377	0.995000	0.86356	7.298000	0.78815	2.726000	0.93360	0.655000	0.94253	CGA	0.384715		TCGA-YB-A89D-01A-12D-A36O-08	0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	0	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	3.280000	-3.262300	1	0.240000	NM_004491		0	9	9	0	410	405	0		1	0		0	0	59	0	0	0.993945	9.096148e-02	0	0	0	21	0	9	410
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A	rs201136508		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000439035.2	1.000000	0.100000	3.000000e-01	1.500000e-01	0.210000	0.253852	0.210000	0.200000																										0				17						c.(376-378)Cga>Aga		zinc finger protein 557							82.0	81.0	82.0					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230	0	0					g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	chr19.hg19:g.7082034C>A		1					ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R	p.R126R			2	2	4	2.120974	Q8N988	ZN557_HUMAN		7	616	+			Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	0	1	hg19	c.376C>A	CCDS45945.1	0																																																																																								0.381107		TCGA-YB-A89D-01A-12D-A36O-08	0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	0	0	1	2	2	2	2	0	0	0	0	78	78	78	76	1	3.280000	-3.037117	1	0.240000	NM_024341		0	10	9	0	488	479	0		1	0		0	0	78	0	0	0.996607	5.002193e-03	0	0	0	5	0	10	488
OR7G3	390883	broad.mit.edu	37	19	9237378	9237378	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:9237378C>A	ENST00000305444.2	-	1	248	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTGGATGTTCACCAGCATCT	0.502																																						ENST00000305444.2	1.000000	0.080000	2.500000e-01	1.200000e-01	0.170000	0.216064	0.170000	0.160000																										0				15						c.(247-249)gtG>gtT		olfactory receptor, family 7, subfamily G, member 3							151.0	125.0	134.0					19																	9237378		2203	4300	6503	SO:0001819	synonymous_variant	390883	0	0					g.chr19:9237378C>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.249G>T	chr19.hg19:g.9237378C>A		1						p.V83V	NM_001001958.1	NP_001001958.1	2	2	4	2.120974	Q8NG95	OR7G3_HUMAN		1	248	-			Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	0	1	hg19	c.249G>T	CCDS32899.1	0																																																																																								0.381107		TCGA-YB-A89D-01A-12D-A36O-08	0.502	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1	0	0	1	2	2	2	2	0	0	0	0	136	136	136	136	1	3.280000	-2.671318	1	0.240000			0	12	12	0	703	694	0		1			0	0	136	0	0	0.999057	0	0	0	0	0	0	12	703
ZNF497	162968	broad.mit.edu	37	19	58867557	58867557	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58867557C>T	ENST00000311044.3	-	3	1633	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GAGGTTGCAACGGTGGCTGAA	0.697																																						ENST00000311044.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.999979	0.990000	1.000000																										0				7						c.(1444-1446)cGt>cAt		zinc finger protein 497							17.0	18.0	18.0					19																	58867557		2185	4263	6448	SO:0001583	missense	162968	1	120612	25				g.chr19:58867557C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1445G>A	chr19.hg19:g.58867557C>T	ENSP00000311183:p.Arg482His	1					CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.R482H	NM_198458.2	NP_940860.2	2	2	4	2.134925	Q6ZNH5	ZN497_HUMAN		3	1633	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	1	1	hg19	c.1445G>A	CCDS12977.1	1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405179	0.42613	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.36157	1.27;1.27	1.01	-0.157	0.13387	1.01	-0.157	0.13387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	L	0.38531	1.155	0.09310	N	1	D	0.65815	0.995	P	0.52031	0.688	T	0.13361	-1.0512	9	0.36615	T	0.2	.	2.4784	0.04581	0.0:0.4377:0.3307:0.2316	.	482	Q6ZNH5	ZN497_HUMAN	H	482	ENSP00000311183:R482H;ENSP00000402815:R482H	ENSP00000311183:R482H	R	-	2	0	0	ZNF497	63559369	63559369	0.000000	0.05858	0.268000	0.24571	0.241000	0.25554	-1.396000	0.02513	-0.011000	0.14247	0.195000	0.17529	CGT	0.385908		TCGA-YB-A89D-01A-12D-A36O-08	0.697	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	1	0	1	2	2	2	2	0	0	0	0	28	28	28	26	1	3.280000	-3.619874	1	0.240000	NM_198458		0	24	23	0	98	95	1		1	1		0	0	28	0	0	1.000000	1.856671e-01	0	2	0	2	0	24	98
CSDE1	7812	broad.mit.edu	37	1	115282502	115282502	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115282502C>A	ENST00000358528.4	-	3	436	c.10G>T	c.(10-12)Gat>Tat	p.D4Y	CSDE1_ENST00000438362.2_Missense_Mutation_p.D50Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	4					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTTGGATCAAAGCTCATC	0.343																																						ENST00000358528.4	0.170000	0.050000	1.400000e-01	7.000000e-02	0.100000	0.113012	0.100000	0.120000																										0				51						c.(10-12)Gat>Tat		cold shock domain containing E1, RNA-binding							225.0	233.0	230.0					1																	115282502		2203	4300	6503	SO:0001583	missense	7812	0	0					g.chr1:115282502C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.10G>T	chr1.hg19:g.115282502C>A	ENSP00000351329:p.Asp4Tyr	1					CSDE1_ENST00000438362.2_Missense_Mutation_p.D50Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y	p.D4Y	NM_001007553.2	NP_001007554.1	1	2	3	1.992567	O75534	CSDE1_HUMAN		3	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	0	1	hg19	c.10G>T	CCDS30812.1	0	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695537	0.68386	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878;ENST00000525970	.	.	.	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.71167	-0.4672	9	0.87932	D	0	-4.3184	20.4324	0.99085	0.0:1.0:0.0:0.0	.	50;4;50	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Y	4;50;4;4;50;4;4;4;4	.	ENSP00000261443:D4Y	D	-	1	0	0	CSDE1	115084025	115084025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	GAT	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.343	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	0	0	1	2	2	2	2	0	0	0	0	342	342	342	340	1	3.280000	-2.841673	1	0.240000	NM_007158		0	16	16	0	1384	1366	0		1	0		0	0	342	0	0	0.999922	8.314225e-01	0	0	0	283	0	16	1384
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2	0.500000	0.100000	3.800000e-01	1.700000e-01	0.260000	0.282652	0.260000	0.240000																										0				13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48.0	48.0	48.0					1																	115829233		2203	4300	6503	SO:0001583	missense	4803	2	121410	35				g.chr1:115829233G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.184C>T	chr1.hg19:g.115829233G>A	ENSP00000358525:p.Arg62Cys	1					RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	1	2	3	1.992567	P01138	NGF_HUMAN		3	352	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	0	1	hg19	c.184C>T	CCDS882.1	0	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	0	NGF	115630756	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	0	0	1	2	2	2	2	0	0	0	0	62	62	62	62	1	3.280000	-7.548142	1	0.240000	NM_002506		0	6	5	0	221	217	0		1	0		0	0	62	0	0	0.963611	1.436973e-02	0	0	0	6	0	6	221
SPAG17	200162	broad.mit.edu	37	1	118598506	118598506	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118598506G>T	ENST00000336338.5	-	19	2637	c.2572C>A	c.(2572-2574)Caa>Aaa	p.Q858K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	858						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATCCAATCTTGAATAGATTTT	0.323																																						ENST00000336338.5	0.220000	0.060000	1.800000e-01	9.000000e-02	0.130000	0.141224	0.130000	0.120000																										0				123						c.(2572-2574)Caa>Aaa		sperm associated antigen 17							99.0	103.0	101.0					1																	118598506		2203	4300	6503	SO:0001583	missense	200162	0	0					g.chr1:118598506G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2572C>A	chr1.hg19:g.118598506G>T	ENSP00000337804:p.Gln858Lys	1						p.Q858K	NM_206996.2	NP_996879.1	1	2	3	1.992567	Q6Q759	SPG17_HUMAN		19	2637	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	0	1	hg19	c.2572C>A	CCDS899.1	0	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803426	0.31869	.	.	ENSG00000155761	ENST00000336338	T	0.29655	1.56	5.35	3.41	0.39046	5.35	3.41	0.39046	.	0.697933	0.14968	N	0.287983	T	0.16171	0.0389	L	0.47716	1.5	0.21878	N	0.999499	P	0.40180	0.705	B	0.41510	0.359	T	0.03993	-1.0986	10	0.45353	T	0.12	.	13.3002	0.60321	0.0:0.4907:0.5093:0.0	.	858	Q6Q759	SPG17_HUMAN	K	858	ENSP00000337804:Q858K	ENSP00000337804:Q858K	Q	-	1	0	0	SPAG17	118400029	118400029	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	1.567000	0.36407	0.770000	0.33336	0.585000	0.79938	CAA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.323	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	0	0	1	2	2	2	2	0	0	0	0	170	170	170	168	1	3.280000	-2.842500	1	0.240000	NM_206996		0	12	13	0	843	831	0		1			0	0	170	0	0	0.999041	0	0	0	0	0	0	12	843
SPAG17	200162	broad.mit.edu	37	1	118616493	118616493	+	Missense_Mutation	SNP	G	G	T	rs146282295		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118616493G>T	ENST00000336338.5	-	17	2434	c.2369C>A	c.(2368-2370)cCg>cAg	p.P790Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	790						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGTACTTTCGGTTTAAAATG	0.428																																						ENST00000336338.5	0.260000	0.070000	2.000000e-01	1.000000e-01	0.140000	0.158155	0.140000	0.150000																										0				123						c.(2368-2370)cCg>cAg		sperm associated antigen 17							164.0	156.0	159.0					1																	118616493		2203	4300	6503	SO:0001583	missense	200162	0	0					g.chr1:118616493G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2369C>A	chr1.hg19:g.118616493G>T	ENSP00000337804:p.Pro790Gln	1						p.P790Q	NM_206996.2	NP_996879.1	1	2	3	1.992567	Q6Q759	SPG17_HUMAN		17	2434	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	0	1	hg19	c.2369C>A	CCDS899.1	0	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828388	0.71143	.	.	ENSG00000155761	ENST00000336338	T	0.28454	1.61	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.100758	0.64402	D	0.000001	T	0.50871	0.1641	M	0.71581	2.175	0.37958	D	0.932887	D	0.89917	1.0	D	0.91635	0.999	T	0.54275	-0.8318	10	0.72032	D	0.01	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	790	Q6Q759	SPG17_HUMAN	Q	790	ENSP00000337804:P790Q	ENSP00000337804:P790Q	P	-	2	0	0	SPAG17	118418016	118418016	1.000000	0.71417	0.954000	0.39281	0.901000	0.52897	5.245000	0.65405	2.669000	0.90835	0.650000	0.86243	CCG	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	0	0	1	2	2	2	2	0	0	0	0	164	164	164	163	1	3.280000	-2.060858	0	0.240000	NM_206996		0	10	10	0	635	627	0		1			0	0	164	0	0	0.996711	0	0	0	0	0	0	10	635
S100A10	6281	broad.mit.edu	37	1	151958650	151958650	+	Missense_Mutation	SNP	G	G	T	rs377184690		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:151958650G>T	ENST00000368811.3	-	2	716	c.57C>A	c.(55-57)ttC>ttA	p.F19L	S100A10_ENST00000368809.1_Missense_Mutation_p.F19L|S100A10_ENST00000478574.1_5'UTR	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	19					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TATCCCCAGCGAATTTGTGAA	0.403																																						ENST00000368811.3	0.500000	0.260000	4.400000e-01	3.100000e-01	0.370000	0.380085	0.370000	0.360000																										0				6						c.(55-57)ttC>ttA		S100 calcium binding protein A10							194.0	184.0	187.0					1																	151958650		2203	4300	6503	SO:0001583	missense	6281	0	0					g.chr1:151958650G>T	BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.57C>A	chr1.hg19:g.151958650G>T	ENSP00000357801:p.Phe19Leu	1					S100A10_ENST00000368809.1_Missense_Mutation_p.F19L|S100A10_ENST00000478574.1_5'UTR	p.F19L	NM_002966.2	NP_002957.1	1	2	3	1.984441	P60903	S10AA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)	2	716	-	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		A8K4V8|P08206|Q5T1C5	Missense_Mutation	SNP	ENST00000368811.3	1	0	hg19	c.57C>A	CCDS1008.1	0	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768048	0.69878	.	.	ENSG00000197747	ENST00000368811;ENST00000368809	T;T	0.09723	2.95;2.95	6.16	4.99	0.66335	6.16	4.99	0.66335	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.054288	0.85682	D	0.000000	T	0.08891	0.0220	.	.	.	0.37602	D	0.92058	P	0.42556	0.783	P	0.47786	0.557	T	0.03423	-1.1038	9	0.87932	D	0	.	7.8152	0.29254	0.8401:0.0:0.1599:0.0	.	19	P60903	S10AA_HUMAN	L	19	ENSP00000357801:F19L;ENSP00000357799:F19L	ENSP00000357799:F19L	F	-	3	2	2	S100A10	150225274	150225274	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	1.787000	0.38704	1.142000	0.42291	-0.300000	0.09419	TTC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.403	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	1	0	1	2	2	2	2	0	0	0	0	178	178	178	173	1	3.280000	-3.486754	1	0.240000	NM_002966		0	37	37	0	892	883	0		1	0		0	0	178	0	0	1.000000	1	0	1	0	3634	0	37	892
EDEM3	80267	broad.mit.edu	37	1	184675862	184675862	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:184675862G>T	ENST00000318130.8	-	18	2384	c.2118C>A	c.(2116-2118)atC>atA	p.I706I	EDEM3_ENST00000367512.3_Silent_p.I663I|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	706	PA.				cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I663I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTATCAGTGCGATTTTTCCCA	0.433																																						ENST00000318130.8	0.680000	0.250000	5.600000e-01	3.400000e-01	0.440000	0.457889	0.440000	0.430000																										1	Substitution - coding silent(1)	p.I663I(1)	large_intestine(1)	30						c.(2116-2118)atC>atA		ER degradation enhancer, mannosidase alpha-like 3							171.0	122.0	139.0					1																	184675862		2203	4300	6503	SO:0001819	synonymous_variant	80267	0	0					g.chr1:184675862G>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2118C>A	chr1.hg19:g.184675862G>T		1					EDEM3_ENST00000367512.3_Silent_p.I663I|EDEM3_ENST00000466392.1_5'UTR	p.I706I	NM_025191.3	NP_079467.3	1	2	3	1.992118	Q9BZQ6	EDEM3_HUMAN		18	2384	-			B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	1	0	hg19	c.2118C>A	CCDS1363.2	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.433	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	1	0	0	2	2	2	2	0	0	0	0	56	56	56	55	1	3.280000	-16.143300	1	0.240000	NM_025191		0	15	14	0	307	305	0		1	0		0	0	56	0	0	0.999872	6.906616e-01	0	0	0	50	0	15	307
HMCN1	83872	broad.mit.edu	37	1	185833685	185833685	+	Silent	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185833685T>G	ENST00000271588.4	+	3	652	c.423T>G	c.(421-423)gtT>gtG	p.V141V	HMCN1_ENST00000367492.2_Silent_p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	141	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTATGTTTTCACTGATG	0.438																																						ENST00000271588.4	0.320000	0.050000	2.400000e-01	9.000000e-02	0.150000	0.172765	0.150000	0.150000																										0				308						c.(421-423)gtT>gtG		hemicentin 1							122.0	115.0	117.0					1																	185833685		2203	4300	6503	SO:0001819	synonymous_variant	83872	0	0					g.chr1:185833685T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.423T>G	chr1.hg19:g.185833685T>G		1					HMCN1_ENST00000367492.2_Silent_p.V141V	p.V141V	NM_031935.2	NP_114141.2	1	2	3	1.992118	Q96RW7	HMCN1_HUMAN		3	652	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	0	1	hg19	c.423T>G	CCDS30956.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	1	2	2	2	2	0	0	0	0	64	64	64	64	1	3.280000	-5.863957	1	0.240000	NM_031935		0	5	5	0	315	312	0		1	0		0	0	64	0	0	0.936463	2.343998e-03	0	0	0	4	0	5	315
HMCN1	83872	broad.mit.edu	37	1	185931765	185931765	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.N648N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413																																						ENST00000271588.4	0.220000	0.070000	1.800000e-01	1.000000e-01	0.130000	0.144540	0.130000	0.140000																										0				308						c.(1942-1944)aaC>aaT		hemicentin 1							207.0	190.0	196.0					1																	185931765		2203	4300	6503	SO:0001819	synonymous_variant	83872	5	121412	41				g.chr1:185931765C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	chr1.hg19:g.185931765C>T		1					HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	p.N648N	NM_031935.2	NP_114141.2	1	2	3	1.992118	Q96RW7	HMCN1_HUMAN		12	2173	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	0	1	hg19	c.1944C>T	CCDS30956.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	1	2	2	2	2	0	0	0	0	201	201	201	199	1	3.280000	-2.642559	1	0.240000	NM_031935		0	15	17	0	1014	1001	0		1	0		0	0	201	0	0	0.999857	2.449838e-03	0	0	0	5	0	15	1014
EPB41	2035	broad.mit.edu	37	1	29359683	29359683	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:29359683C>A	ENST00000343067.4	+	9	1418	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000373800.3_Missense_Mutation_p.R222S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S|EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	431	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAGAATTAACCGCTTCCCTTG	0.408																																						ENST00000343067.4	0.270000	0.050000	2.100000e-01	9.000000e-02	0.140000	0.157478	0.140000	0.150000																										0				14						c.(1291-1293)Cgc>Agc		erythrocyte membrane protein band 4.1							115.0	112.0	113.0					1																	29359683		2203	4300	6503	SO:0001583	missense	2035	0	0					g.chr1:29359683C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1291C>A	chr1.hg19:g.29359683C>A	ENSP00000345259:p.Arg431Ser	1					EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S|EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000373800.3_Missense_Mutation_p.R222S	p.R431S	NM_001166005.1	NP_001159477.1	1	2	3	1.992567	P11171	41_HUMAN		9	1418	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	0	1	hg19	c.1291C>A	CCDS53288.1	0	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991544	0.93106	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.97	5.97	0.96955	5.97	5.97	0.96955	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	L	0.39566	1.225	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.859;0.997;0.999;0.991;0.996;1.0;0.986;0.998;1.0	D;P;D;D;P;P;D;P;D;D	0.91635	0.99;0.765;0.932;0.984;0.83;0.888;0.999;0.895;0.984;0.999	D	0.89328	0.3645	10	0.87932	D	0	.	14.2724	0.66159	0.1486:0.8514:0.0:0.0	.	325;431;431;431;431;431;448;396;222;222	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	S	448;431;431;431;325;431;222;222;396;431;431	ENSP00000345259:R431S;ENSP00000348397:R431S;ENSP00000381839:R431S;ENSP00000317597:R222S;ENSP00000362906:R222S;ENSP00000290100:R396S;ENSP00000362904:R431S;ENSP00000362903:R431S	ENSP00000345259:R431S	R	+	1	0	0	EPB41	29232270	29232270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.696000	0.61774	2.834000	0.97654	0.650000	0.86243	CGC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.408	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	0	0	1	2	2	2	2	0	0	0	0	96	96	96	96	1	3.280000	-2.874733	1	0.240000	NM_203342		0	7	7	0	463	459	0		1	0		0	0	96	0	0	0.980167	1.851319e-02	0	0	0	12	0	7	463
WDR78	79819	broad.mit.edu	37	1	67337143	67337143	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:67337143C>A	ENST00000371026.3	-	6	905	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	284					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATATAGGTCATTGCCTAAT	0.318																																						ENST00000371026.3	1.000000	0.690000	9.500000e-01	7.600000e-01	0.850000	0.861967	0.850000	1.000000																										0				32						c.(850-852)Gac>Tac		WD repeat domain 78							159.0	157.0	158.0					1																	67337143		2202	4297	6499	SO:0001583	missense	79819	0	0					g.chr1:67337143C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.850G>T	chr1.hg19:g.67337143C>A	ENSP00000360065:p.Asp284Tyr	1					WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y	p.D284Y	NM_024763.4	NP_079039.4	1	2	3	1.992567	Q5VTH9	WDR78_HUMAN		6	905	-			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	1	1	hg19	c.850G>T	CCDS635.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.507082|2.507082	0.44558|0.44558	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022|ENST00000469450	T;T;T;T;T|.	0.79554|.	-0.23;-1.28;-0.66;1.57;0.19|.	5.86|5.86	5.86|5.86	0.93980|0.93980	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.047040|.	0.85682|.	D|.	0.000000|.	T|.	0.79417|.	0.4442|.	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.994;0.994|.	T|.	0.79349|.	-0.1840|.	10|.	0.87932|.	D|.	0|.	-28.0743|-28.0743	18.9441|18.9441	0.92615|0.92615	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	30;284;284;284|.	Q5VTH9-3;Q5TAD8;A0AVI9;Q5VTH9|.	.;.;.;WDR78_HUMAN|.	Y|L	284;30;50;284;284|17	ENSP00000360065:D284Y;ENSP00000393182:D30Y;ENSP00000433682:D50Y;ENSP00000360062:D284Y;ENSP00000360061:D284Y|.	ENSP00000360061:D284Y|.	D|X	-|-	1|2	0|2	0|2	WDR78|WDR78	67109731|67109731	67109731|67109731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.063000|0.063000	0.16089|0.16089	4.342000|4.342000	0.59341|0.59341	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	GAC|TGA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	1	0	1	2	2	2	2	0	0	0	0	146	146	146	145	1	3.280000	-19.987740	1	0.240000	NM_024763		0	83	83	0	819	811	0		1	0		0	0	146	0	0	1.000000	8.708060e-03	0	0	0	2	0	83	819
KCNK2	3776	broad.mit.edu	37	1	215408472	215408472	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:215408472T>C	ENST00000444842.2	+	7	1415	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	422	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ATTGCTGTGATTGAGAACATC	0.438																																						ENST00000444842.2	0.230000	0.040000	1.800000e-01	8.000000e-02	0.120000	0.133781	0.120000	0.120000																										0				30						c.(1264-1266)aTt>aCt		potassium channel, subfamily K, member 2	Dofetilide(DB00204)|Dronedarone(DB04855)						142.0	138.0	140.0					1																	215408472		2203	4299	6502	SO:0001583	missense	3776	0	0					g.chr1:215408472T>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1265T>C	chr1.hg19:g.215408472T>C	ENSP00000394033:p.Ile422Thr	0					KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T|KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T	p.I422T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	1	2	3	1.982112	O95069	KCNK2_HUMAN		7	1415	+			A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	0	1	hg19	c.1265T>C	CCDS41467.1	0	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167433	0.57476	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.76;1.73	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.385177	0.29565	N	0.011799	T	0.21347	0.0514	L	0.27053	0.805	0.58432	D	0.999999	P;P;P	0.40731	0.728;0.608;0.728	B;B;B	0.37888	0.26;0.133;0.26	T	0.03157	-1.1066	10	0.87932	D	0	.	15.8309	0.78749	0.0:0.0:0.0:1.0	.	407;422;418	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	418;407;422	ENSP00000375765:I418T;ENSP00000375764:I407T;ENSP00000394033:I422T	ENSP00000375764:I407T	I	+	2	0	0	KCNK2	213475095	213475095	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.502000	0.81614	2.149000	0.67028	0.402000	0.26972	ATT	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.438	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	0	0	1	2	2	2	2	0	0	0	0	104	104	104	103	1	3.280000	-6.290299	1	0.240000	NM_014217		0	7	7	0	547	542	0		1	0		0	0	104	0	0	0.980084	2.234889e-03	0	0	0	5	0	7	547
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:23433311G>C	ENST00000377009.3	-	1	171	c.138C>G	c.(136-138)gaC>gaG	p.D46E	CST11_ENST00000377007.3_Missense_Mutation_p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3	0.250000	0.060000	2.000000e-01	9.000000e-02	0.140000	0.151828	0.140000	0.130000																										0				14						c.(136-138)gaC>gaG		cystatin 11							211.0	184.0	193.0					20																	23433311		2203	4300	6503	SO:0001583	missense	140880	1	121412	34				g.chr20:23433311G>C	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>G	chr20.hg19:g.23433311G>C	ENSP00000366208:p.Asp46Glu	1					CST11_ENST00000377007.3_Missense_Mutation_p.D46E	p.D46E	NM_130794.1	NP_570612.1	2	2	4	2.163192	Q9H112	CST11_HUMAN		1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	0	1	hg19	c.138C>G	CCDS13155.1	0	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315401	0.01331	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.20881	2.04;2.04	3.86	-7.72	0.01250	3.86	-7.72	0.01250	Proteinase inhibitor I25, cystatin (2);	1.801240	0.02192	N	0.061416	T	0.07188	0.0182	N	0.12182	0.205	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.18871	0.023;0.022	T	0.32903	-0.9889	10	0.02654	T	1	-0.6315	0.5297	0.00626	0.3409:0.2761:0.1774:0.2056	.	46;46	Q9H112-2;Q9H112	.;CST11_HUMAN	E	46	ENSP00000366208:D46E;ENSP00000366206:D46E	ENSP00000366206:D46E	D	-	3	2	2	CST11	23381311	23381311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.747000	0.04823	-1.825000	0.01207	-0.142000	0.14014	GAC	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	0	0	1	2	2	2	2	0	0	0	0	155	155	155	152	1	3.280000	-2.717826	1	0.240000	NM_130794		0	10	10	0	735	730	0		1			0	0	155	0	0	0.996794	0	0	0	0	0	0	10	735
CTCFL	140690	broad.mit.edu	37	20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56094287G>A	ENST00000608263.1	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	301					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453																																						ENST00000608263.1	0.260000	0.040000	2.000000e-01	8.000000e-02	0.130000	0.143390	0.130000	0.120000																										0				58						c.(901-903)Cgg>Tgg		CCCTC-binding factor (zinc finger protein)-like							95.0	95.0	95.0					20																	56094287		2203	4300	6503	SO:0001583	missense	140690	2	121412	33				g.chr20:56094287G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.901C>T	chr20.hg19:g.56094287G>A	ENSP00000476783:p.Arg301Trp	1					CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W	p.R301W	NM_001269041.1	NP_001255970.1	2	2	4	2.163192	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)	3	1562	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	0	1	hg19	c.901C>T	CCDS13459.1	0	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238725	0.39598	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.25	0.582	0.17412	5.25	0.582	0.17412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001079	T	0.25531	0.0621	M	0.69523	2.12	0.38434	D	0.946527	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.10847	-1.0612	10	0.72032	D	0.01	-42.7671	14.3281	0.66534	0.0:0.0:0.3805:0.6195	.	301;301;301;301;301;301;301;301	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	W	301;301;301;301;301;39;301;301;301;96;301	ENSP00000415579:R301W;ENSP00000243914:R301W;ENSP00000360239:R301W;ENSP00000415329:R301W;ENSP00000392034:R301W;ENSP00000437999:R39W;ENSP00000413713:R301W;ENSP00000403369:R301W;ENSP00000409344:R301W;ENSP00000439998:R96W;ENSP00000399061:R301W	ENSP00000243914:R301W	R	-	1	2	2	CTCFL	55527693	55527693	0.611000	0.26992	0.073000	0.20177	0.072000	0.16883	0.855000	0.27805	0.255000	0.21593	-0.293000	0.09583	CGG	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	0	0	1	2	2	2	2	0	0	0	0	87	87	87	87	1	3.280000	-2.774029	1	0.240000	NM_080618		0	6	6	0	495	490	0		1			0	0	87	0	0	0.964070	0	0	0	0	0	0	6	495
ZBP1	81030	broad.mit.edu	37	20	56189968	56189968	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56189968G>T	ENST00000371173.3	-	4	654	c.477C>A	c.(475-477)tcC>tcA	p.S159S	ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000340462.4_Silent_p.S136S|ZBP1_ENST00000395822.3_Silent_p.S84S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	159					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCCATGCTTTGGACTGCTCAT	0.557																																						ENST00000371173.3	0.250000	0.060000	2.000000e-01	1.000000e-01	0.140000	0.152439	0.140000	0.130000																										0				27						c.(475-477)tcC>tcA		Z-DNA binding protein 1							194.0	152.0	166.0					20																	56189968		2203	4300	6503	SO:0001819	synonymous_variant	81030	0	0					g.chr20:56189968G>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.477C>A	chr20.hg19:g.56189968G>T		1					ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000340462.4_Silent_p.S136S|ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000395822.3_Silent_p.S84S	p.S159S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	2	2	4	2.163192	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)	4	654	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	0	1	hg19	c.477C>A	CCDS13461.1	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.557	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	0	0	1	2	2	2	2	0	0	0	0	147	147	147	144	1	3.280000	-2.240626	0	0.240000	NM_030776		0	10	9	0	732	725	0		1	0		0	0	147	0	0	0.996726	6.219297e-03	0	0	0	8	0	10	732
MYO18B	84700	broad.mit.edu	37	22	26219559	26219559	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:26219559C>T	ENST00000407587.2	+	13	2778	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I	MYO18B_ENST00000335473.7_Missense_Mutation_p.T870I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	870	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T870I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACACGGCCACCTTCAAGCAC	0.577																																						ENST00000407587.2	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.T870I(1)	prostate(1)	146						c.(2608-2610)aCc>aTc		myosin XVIIIB							167.0	166.0	167.0					22																	26219559		2100	4218	6318	SO:0001583	missense	84700	0	0					g.chr22:26219559C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2609C>T	chr22.hg19:g.26219559C>T	ENSP00000386096:p.Thr870Ile	1					MYO18B_ENST00000335473.7_Missense_Mutation_p.T870I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I	p.T870I			0	2	2	1.752359	Q8IUG5	MY18B_HUMAN		13	2778	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	1	1	hg19	c.2609C>T		1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139738	0.37728	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.69040	-0.37;-0.37;-0.37	4.73	3.47	0.39725	4.73	3.47	0.39725	Myosin head, motor domain (2);	0.306844	0.29932	N	0.010821	T	0.54806	0.1881	L	0.28776	0.89	0.34621	D	0.718623	P;D;P;D	0.54207	0.708;0.965;0.946;0.957	B;P;P;P	0.52217	0.249;0.693;0.462;0.567	T	0.58864	-0.7561	10	0.13108	T	0.6	.	4.1753	0.10349	0.0:0.6771:0.0:0.3229	.	383;870;870;870	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	870	ENSP00000441229:T870I;ENSP00000334563:T870I;ENSP00000386096:T870I	ENSP00000334563:T870I	T	+	2	0	0	MYO18B	24549559	24549559	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.574000	0.60900	2.327000	0.79052	0.448000	0.29417	ACC	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	2	2	2	2	0	0	0	0	204	204	204	198	1	3.280000	-20.000000	1	0.240000	NM_032608		0	194	192	0	540	530	1		1			0	0	204	0	0	1.000000	0	0	0	0	0	0	194	540
MGAT3	4248	broad.mit.edu	37	22	39884255	39884255	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884255C>A	ENST00000341184.6	+	2	1118	c.903C>A	c.(901-903)gtC>gtA	p.V301V		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	301					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)					AGGACGGCGTCTCGCGGCTGC	0.657																																						ENST00000341184.6	1.000000	0.860000	1	9.600000e-01	0.990000	0.984482	0.990000	1.000000																										0				24						c.(901-903)gtC>gtA		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							59.0	61.0	60.0					22																	39884255		2202	4296	6498	SO:0001819	synonymous_variant	4248	0	0					g.chr22:39884255C>A	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.903C>A	chr22.hg19:g.39884255C>A		1						p.V301V	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	0	2	2	1.799677	Q09327	MGAT3_HUMAN		2	1118	+	Melanoma(58;0.04)		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	1	1	hg19	c.903C>A	CCDS13994.2	1																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	1	0	1	2	2	2	2	0	0	0	0	163	163	163	162	1	3.280000	-20.000000	1	0.240000	NM_002409		0	78	77	0	527	519	1		1	1		0	0	163	0	0	1.000000	9.732522e-01	0	24	0	16	0	78	527
MGAT3	4248	broad.mit.edu	37	22	39884489	39884489	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884489C>T	ENST00000341184.6	+	2	1352	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		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	379					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)					TGGACGGCATCCGCCTGCGCC	0.647																																						ENST00000341184.6	1.000000	0.720000	1	8.400000e-01	0.960000	0.934896	0.960000	1.000000																										0				24						c.(1135-1137)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							41.0	44.0	43.0					22																	39884489		2203	4299	6502	SO:0001819	synonymous_variant	4248	0	0					g.chr22:39884489C>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.1137C>T	chr22.hg19:g.39884489C>T		1						p.I379I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	0	2	2	1.799677	Q09327	MGAT3_HUMAN		2	1352	+	Melanoma(58;0.04)		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	1	1	hg19	c.1137C>T	CCDS13994.2	1																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	1	0	1	2	2	2	2	0	0	0	0	105	105	105	103	1	3.280000	-20.000000	1	0.240000	NM_002409		0	47	45	0	357	347	1		1	1		0	0	105	0	0	1.000000	9.847040e-01	0	36	0	16	0	47	357
MGAT3	4248	broad.mit.edu	37	22	39884636	39884636	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884636C>T	ENST00000341184.6	+	2	1499	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		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	428					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)					CCGAGGGCATCTACTTCAAGC	0.652																																						ENST00000341184.6	1.000000	0.550000	1	7.000000e-01	0.880000	0.866172	0.880000	1.000000																										0				24						c.(1282-1284)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							55.0	52.0	53.0					22																	39884636		2203	4300	6503	SO:0001819	synonymous_variant	4248	0	0					g.chr22:39884636C>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.1284C>T	chr22.hg19:g.39884636C>T		1						p.I428I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	0	2	2	1.799677	Q09327	MGAT3_HUMAN		2	1499	+	Melanoma(58;0.04)		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	1	1	hg19	c.1284C>T	CCDS13994.2	1																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	1	0	1	2	2	2	2	0	0	0	0	43	43	43	42	1	3.280000	-20.000000	1	0.240000	NM_002409		0	18	18	0	151	149	1		1	1		0	0	43	0	0	0.999985	9.506031e-01	0	35	0	10	0	18	151
TNRC6B	23112	broad.mit.edu	37	22	40662002	40662002	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:40662002C>T	ENST00000454349.2	+	5	1979	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	TNRC6B_ENST00000335727.9_Missense_Mutation_p.R590C|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	590	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TAACTCTGGCCGTCGGTCGTA	0.527																																						ENST00000454349.2	1.000000	0.710000	1	7.900000e-01	0.890000	0.893756	0.890000	1.000000																										0				1						c.(1768-1770)Cgt>Tgt		trinucleotide repeat containing 6B							108.0	113.0	111.0					22																	40662002		2001	4172	6173	SO:0001583	missense	23112	0	0					g.chr22:40662002C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1768C>T	chr22.hg19:g.40662002C>T	ENSP00000401946:p.Arg590Cys	1					TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R590C|TNRC6B_ENST00000301923.9_Intron	p.R590C	NM_001162501.1	NP_001155973.1	0	2	2	1.799677	Q9UPQ9	TNR6B_HUMAN		5	1979	+			B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	1	1	hg19	c.1768C>T	CCDS54533.1	1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539333	0.45176	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.14022	2.56;2.54	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.106556	0.64402	D	0.000003	T	0.23965	0.0580	N	0.22421	0.69	0.50467	D	0.999871	D;D;D	0.89917	1.0;0.998;0.996	D;B;P	0.76575	0.988;0.446;0.649	T	0.01276	-1.1398	10	0.56958	D	0.05	-4.2093	14.3069	0.66391	0.1485:0.8515:0.0:0.0	.	590;590;590	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	590	ENSP00000401946:R590C;ENSP00000338371:R590C	ENSP00000338371:R590C	R	+	1	0	0	TNRC6B	38991948	38991948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.492000	0.53259	2.607000	0.88179	0.555000	0.69702	CGT	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.527	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	2	15	2	2	0	0	0	1	160	160	160	160	1	3.280000	-3.142702	1	0.240000			0	74	74	0	613	600	1		1	0		0	0	160	0	0	1.000000	9.487944e-02	0	1	0	4	0	74	613
EFCAB6	64800	broad.mit.edu	37	22	44127685	44127685	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:44127685C>A	ENST00000262726.7	-	8	904	c.651G>T	c.(649-651)tcG>tcT	p.S217S	EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000356087.4_Silent_p.S111S|EFCAB6_ENST00000358439.4_Silent_p.S111S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAGTGTTTCGAAAACCTAA	0.333																																						ENST00000262726.7	0.300000	0.100000	2.400000e-01	1.300000e-01	0.180000	0.195344	0.180000	0.180000																										0				68						c.(649-651)tcG>tcT		EF-hand calcium binding domain 6							110.0	101.0	104.0					22																	44127685		2202	4299	6501	SO:0001819	synonymous_variant	64800	0	0					g.chr22:44127685C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.651G>T	chr22.hg19:g.44127685C>A		1					EFCAB6_ENST00000358439.4_Silent_p.S111S|EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000356087.4_Silent_p.S111S	p.S217S	NM_022785.3	NP_073622.2	0	2	2	1.770719	Q5THR3	EFCB6_HUMAN		8	904	-		Ovarian(80;0.0247)|all_neural(38;0.025)	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	0	1	hg19	c.651G>T	CCDS14049.1	0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.333	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	0	0	1	2	2	2	2	0	0	0	0	105	105	105	104	1	3.280000	-3.292305	1	0.240000	NM_022785		0	13	14	0	579	578	0		1	0		0	0	105	0	0	0.999538	0	0	0	0	1	0	13	579
CPT1B	1375	broad.mit.edu	37	22	51012928	51012928	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:51012928G>T	ENST00000360719.2	-	8	1016	c.879C>A	c.(877-879)atC>atA	p.I293I	CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000312108.7_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Silent_p.I293I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000434492.2_Silent_p.I90I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	293					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCACAGGCTTGATTTCTTCAC	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2	0.340000	0.120000	2.800000e-01	1.600000e-01	0.220000	0.230191	0.220000	0.220000																										0				22						c.(877-879)atC>atA		carnitine palmitoyltransferase 1B (muscle)							197.0	159.0	172.0					22																	51012928		2203	4300	6503	SO:0001819	synonymous_variant	1375	0	0					g.chr22:51012928G>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.879C>A	chr22.hg19:g.51012928G>T		1					CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I|CPT1B_ENST00000440709.1_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000405237.3_Silent_p.I293I	p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	0	2	2	1.770719	Q92523	CPT1B_HUMAN		8	1016	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	0	1	hg19	c.879C>A	CCDS14098.1	0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	0	0	1	2	2	2	2	0	0	0	0	172	172	172	169	1	3.280000	-2.214577	0	0.240000	NM_152246		0	15	14	0	559	547	0		1	0		0	0	172	0	0	0.999849	1.940588e-01	0	0	0	29	0	15	559
CNTNAP5	129684	broad.mit.edu	37	2	125284870	125284870	+	Missense_Mutation	SNP	G	G	T	rs539898795	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:125284870G>T	ENST00000431078.1	+	10	1847	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	495	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGGTGCCCCGACAATCTCAC	0.443																																						ENST00000431078.1	0.710000	0.240000	5.800000e-01	3.300000e-01	0.440000	0.464273	0.440000	0.440000																										0				176						c.(1483-1485)Gac>Tac		contactin associated protein-like 5							94.0	90.0	91.0					2																	125284870		1922	4134	6056	SO:0001583	missense	129684	0	0					g.chr2:125284870G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1483G>T	chr2.hg19:g.125284870G>T	ENSP00000399013:p.Asp495Tyr	1						p.D495Y	NM_130773.2	NP_570129.1	2	2	4	2.162740	Q8WYK1	CNTP5_HUMAN		10	1847	+			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	1	0	hg19	c.1483G>T	CCDS46401.1	0	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694209	0.68386	.	.	ENSG00000155052	ENST00000431078	T	0.80033	-1.33	5.67	5.67	0.87782	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000195	D	0.89536	0.6743	M	0.77820	2.39	0.46416	D	0.999037	D	0.64830	0.994	D	0.64687	0.928	D	0.90164	0.4230	10	0.72032	D	0.01	.	18.7756	0.91910	0.0:0.0:1.0:0.0	.	495	Q8WYK1	CNTP5_HUMAN	Y	495	ENSP00000399013:D495Y	ENSP00000399013:D495Y	D	+	1	0	0	CNTNAP5	125001340	125001340	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	3.319000	0.51983	2.685000	0.91497	0.650000	0.86243	GAC	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.443	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	3.280000	-4.145986	1	0.240000			0	13	13	0	295	289	0		1			0	0	57	0	0	0.999501	0	0	0	0	0	0	13	295
LRP1B	53353	broad.mit.edu	37	2	141747122	141747122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:141747122C>A	ENST00000389484.3	-	17	3720	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTGGATTCATCTTCATTG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	0.330000	0.110000	2.700000e-01	1.500000e-01	0.200000	0.216810	0.200000	0.200000																										0				606						c.(2749-2751)Gaa>Taa		low density lipoprotein receptor-related protein 1B							134.0	127.0	129.0					2																	141747122		2203	4300	6503	SO:0001587	stop_gained	53353	0	0					g.chr2:141747122C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2749G>T	chr2.hg19:g.141747122C>A	ENSP00000374135:p.Glu917*	1	TSP Lung(27;0.18)				Y_RNA_ENST00000365022.1_RNA	p.E917*	NM_018557.2	NP_061027.2	2	2	4	2.162740	Q9NZR2	LRP1B_HUMAN		17	3720	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	0	1	hg19	c.2749G>T	CCDS2182.1	0	.	.	.	.	.	.	.	.	.	.	C	50	16.335596	0.99861	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	X	917;855	.	ENSP00000374135:E917X	E	-	1	0	0	LRP1B	141463592	141463592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.727000	0.84838	2.840000	0.97914	0.655000	0.94253	GAA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1	2	2	2	2	0	0	0	0	153	153	153	152	1	3.280000	-2.740707	1	0.240000	NM_018557		0	15	15	0	744	736	0		1			0	0	153	0	0	0.999860	0	0	0	0	0	0	15	744
TTN	7273	broad.mit.edu	37	2	179445134	179445134	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:179445134C>A	ENST00000591111.1	-	267	62273	c.62049G>T	c.(62047-62049)gtG>gtT	p.V20683V	TTN_ENST00000460472.2_Silent_p.V13259V|TTN_ENST00000589042.1_Silent_p.V22324V|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20683					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTTGTTCACATTTTCAC	0.363																																						ENST00000591111.1	1.000000	0.130000	3.400000e-01	1.800000e-01	0.230000	0.332437	0.230000	0.220000																										0				1448						c.(62047-62049)gtG>gtT		titin							165.0	150.0	155.0					2																	179445134		1869	4096	5965	SO:0001819	synonymous_variant	7273	0	0					g.chr2:179445134C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62049G>T	chr2.hg19:g.179445134C>A		0					RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.V22324V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN_ENST00000359218.5_Silent_p.V13384V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.V20683V			2	2	4	2.076171	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	267	62273	-			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	0	1	hg19	c.62049G>T		0																																																																																								0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	2	2	2	2	0	0	0	0	143	143	143	141	1	3.280000	-2.532828	1	0.240000	NM_133378		0	18	16	0	783	774	0		1	0		0	0	143	0	0	0.999979	5.885888e-04	0	0	0	2	0	18	783
TTN	7273	broad.mit.edu	37	2	179458949	179458949	+	Missense_Mutation	SNP	C	C	A	rs377633051		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:179458949C>A	ENST00000591111.1	-	247	53472	c.53248G>T	c.(53248-53250)Gac>Tac	p.D17750Y	TTN_ENST00000460472.2_Missense_Mutation_p.D10326Y|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D19391Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10518Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16823Y|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10451Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17750	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTGAAGTCGAGGTGAAGC	0.403																																						ENST00000591111.1	1.000000	0.260000	7.200000e-01	3.600000e-01	0.490000	0.547268	0.490000	0.440000																										0				1448						c.(53248-53250)Gac>Tac		titin							61.0	58.0	59.0					2																	179458949		1885	4113	5998	SO:0001583	missense	7273	0	0					g.chr2:179458949C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53248G>T	chr2.hg19:g.179458949C>A	ENSP00000465570:p.Asp17750Tyr	0					TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16823Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10326Y|TTN_ENST00000589042.1_Missense_Mutation_p.D19391Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10518Y|TTN_ENST00000359218.5_Missense_Mutation_p.D10451Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.D17750Y			2	2	4	2.076171	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	247	53472	-			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	1	0	hg19	c.53248G>T		0	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331152	0.41297	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;0.03;0.01;-0.01	6.17	5.3	0.74995	6.17	5.3	0.74995	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80336	0.4604	M	0.73217	2.22	0.58432	D	0.999994	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.68353	0.957;0.957;0.957;0.957	T	0.82926	-0.0215	9	0.87932	D	0	.	15.336	0.74255	0.0:0.9338:0.0:0.0662	.	10326;10451;10518;17750	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	16823;10326;10518;10451;10324	ENSP00000343764:D16823Y;ENSP00000434586:D10326Y;ENSP00000340554:D10518Y;ENSP00000352154:D10451Y	ENSP00000340554:D10518Y	D	-	1	0	0	TTN	179167195	179167195	1.000000	0.71417	0.935000	0.37517	0.985000	0.73830	4.910000	0.63321	1.630000	0.50440	0.655000	0.94253	GAC	0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	2	2	2	2	0	0	0	0	70	70	70	70	1	3.280000	-14.523590	1	0.240000	NM_133378		0	13	13	0	274	267	0		1			0	0	70	0	0	0.999489	0	0	0	0	0	0	13	274
ZC3H15	55854	broad.mit.edu	37	2	187370558	187370558	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:187370558G>T	ENST00000337859.6	+	8	1183	c.956G>T	c.(955-957)gGt>gTt	p.G319V	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGGGAACAGGTGGTGATGAG	0.428																																						ENST00000337859.6	1.000000	0.430000	1	5.700000e-01	0.770000	0.776428	0.770000	1.000000																										0				15						c.(955-957)gGt>gTt		zinc finger CCCH-type containing 15							105.0	99.0	101.0					2																	187370558		2021	4174	6195	SO:0001583	missense	55854	0	0					g.chr2:187370558G>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.956G>T	chr2.hg19:g.187370558G>T	ENSP00000338788:p.Gly319Val	0					ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	p.G319V	NM_018471.2	NP_060941.2	2	2	4	2.076171	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)	8	1183	+			B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	1	1	hg19	c.956G>T	CCDS42791.1	0	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032400	0.35893	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.29917	1.55	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.478557	0.25823	N	0.028075	T	0.21022	0.0506	N	0.22421	0.69	0.50632	D	0.999884	B	0.33583	0.418	B	0.32393	0.145	T	0.04635	-1.0937	10	0.22706	T	0.39	-16.981	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	319	Q8WU90	ZC3HF_HUMAN	V	319;114;319	ENSP00000338788:G319V	ENSP00000338788:G319V	G	+	2	0	0	ZC3H15	187078803	187078803	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.103000	0.64578	2.941000	0.99782	0.655000	0.94253	GGT	0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.428	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	1	0	0	2	2	2	2	0	0	0	0	34	34	34	33	1	3.280000	-18.426220	1	0.240000	NM_018471		0	14	14	0	181	179	1		1	1		0	0	34	0	0	0.999773	9.993094e-01	0	25	0	139	0	14	181
NDUFS1	4719	broad.mit.edu	37	2	207017231	207017231	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:207017231C>A	ENST00000233190.6	-	3	331	c.65G>T	c.(64-66)cGa>cTa	p.R22L	NDUFS1_ENST00000440274.1_Missense_Mutation_p.R22L|NDUFS1_ENST00000455934.2_Missense_Mutation_p.R36L|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000449699.1_Missense_Mutation_p.R22L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	22					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCAGTTGTTCGAACTGACCA	0.388																																						ENST00000233190.6	1.000000	0.240000	6.100000e-01	3.200000e-01	0.420000	0.491640	0.420000	0.400000																										0				38						c.(64-66)cGa>cTa		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)							110.0	92.0	98.0					2																	207017231		2203	4300	6503	SO:0001583	missense	4719	0	0					g.chr2:207017231C>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.65G>T	chr2.hg19:g.207017231C>A	ENSP00000233190:p.Arg22Leu	0					NDUFS1_ENST00000455934.2_Missense_Mutation_p.R36L|NDUFS1_ENST00000449699.1_Missense_Mutation_p.R22L|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.R22L|NDUFS1_ENST00000457011.1_Intron	p.R22L	NM_005006.6	NP_004997.4	2	2	4	2.076171	P28331	NDUS1_HUMAN		3	331	-			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	1	0	hg19	c.65G>T	CCDS2366.1	0	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048404	0.75846	.	.	ENSG00000023228	ENST00000233190;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000454195	D;D;D;D;T	0.89050	-2.33;-2.46;-2.34;-2.33;-1.2	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.318441	0.28332	N	0.015736	D	0.89884	0.6844	M	0.70595	2.14	0.80722	D	1	B;B;B	0.27068	0.167;0.002;0.167	B;B;B	0.28991	0.097;0.003;0.049	D	0.86939	0.2078	10	0.59425	D	0.04	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	22;36;22	E7ENF3;B4DJA0;P28331	.;.;NDUS1_HUMAN	L	22;22;36;22;22	ENSP00000233190:R22L;ENSP00000409766:R22L;ENSP00000392709:R36L;ENSP00000399912:R22L;ENSP00000389413:R22L	ENSP00000233190:R22L	R	-	2	0	0	NDUFS1	206725476	206725476	1.000000	0.71417	0.999000	0.59377	0.839000	0.47603	6.841000	0.75374	2.793000	0.96121	0.563000	0.77884	CGA	0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.388	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	1	0	1	2	2	2	2	0	0	0	0	68	68	68	68	1	3.280000	-2.746096	1	0.240000	NM_005006		0	16	15	0	387	384	0		1	0		0	0	68	0	0	0.999931	4.010641e-01	0	0	0	33	0	16	387
DOCK10	55619	broad.mit.edu	37	2	225729339	225729339	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:225729339G>T	ENST00000258390.7	-	13	1600	c.1533C>A	c.(1531-1533)atC>atA	p.I511I	DOCK10_ENST00000409592.3_Silent_p.I505I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	511					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGACTTTTTCGATTTTGGCCA	0.363																																						ENST00000258390.7	1.000000	0.230000	6.700000e-01	3.200000e-01	0.440000	0.509260	0.440000	0.410000																										0				87						c.(1531-1533)atC>atA		dedicator of cytokinesis 10							83.0	76.0	78.0					2																	225729339		1821	4086	5907	SO:0001819	synonymous_variant	55619	0	0					g.chr2:225729339G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1533C>A	chr2.hg19:g.225729339G>T		0					DOCK10_ENST00000409592.3_Silent_p.I505I	p.I511I	NM_014689.2	NP_055504.2	2	2	4	2.076171	Q96BY6	DOC10_HUMAN		13	1600	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	1	0	hg19	c.1533C>A	CCDS46528.1	0																																																																																								0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	1	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	3.280000	-3.263699	1	0.240000			0	12	12	0	281	277	0		1	0		0	0	59	0	0	0.999095	1.870076e-02	0	0	0	5	0	12	281
GPR35	2859	broad.mit.edu	37	2	241569512	241569512	+	Missense_Mutation	SNP	G	G	A	rs368251622		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:241569512G>A	ENST00000319838.5	+	6	1085	c.143G>A	c.(142-144)cGc>cAc	p.R48H	GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	48					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TTCTGCTGCCGCATGCAGCAG	0.647																																						ENST00000319838.5	1.000000	0.100000	4.700000e-01	1.700000e-01	0.270000	0.361673	0.270000	0.220000																										0				17						c.(142-144)cGc>cAc		G protein-coupled receptor 35		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	75.0	78.0		236,236,143	2.9	0.8	2		78	0,8600		0,0,4300	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	79/341,79/341,48/310	241569512	1,13005	2203	4300	6503	SO:0001583	missense	2859	3	121406	36				g.chr2:241569512G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.143G>A	chr2.hg19:g.241569512G>A	ENSP00000322731:p.Arg48His	0					GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H	p.R48H	NM_001195381.1	NP_001182310.1	2	2	4	2.076171	Q9HC97	GPR35_HUMAN		6	1085	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	0	1	hg19	c.143G>A	CCDS2541.1	0	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219555	0.58560	2.27E-4	0.0	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	3.81	2.92	0.33932	3.81	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.567532	0.16439	U	0.214392	T	0.73225	0.3560	L	0.39514	1.22	0.34064	D	0.657654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.987;0.989;0.989	T	0.74497	-0.3646	10	0.36615	T	0.2	-28.6438	6.1563	0.20340	0.2348:0.0:0.7652:0.0	.	133;79;48	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	48;48;79;48;48	ENSP00000322731:R48H;ENSP00000385140:R48H;ENSP00000415890:R79H;ENSP00000384263:R48H;ENSP00000411788:R48H	ENSP00000322731:R48H	R	+	2	0	0	GPR35	241218185	241218185	0.000000	0.05858	0.789000	0.31954	0.616000	0.37450	-0.018000	0.12568	0.937000	0.37394	0.462000	0.41574	CGC	0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.647	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	0	0	1	2	2	2	2	0	0	0	0	67	67	67	66	1	3.280000	-3.145491	1	0.240000	NM_001195382		0	6	6	0	250	245	0		1	0		0	0	67	0	0	0.963305	8.443615e-01	0	0	0	142	0	6	250
TCF23	150921	broad.mit.edu	37	2	27373013	27373013	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:27373013C>T	ENST00000296096.5	+	2	375	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGAATGCCGCGCGGGAG	0.652																																						ENST00000296096.5	0.420000	0.070000	3.100000e-01	1.300000e-01	0.200000	0.227449	0.200000	0.200000																										0				14						c.(244-246)gCc>gTc		transcription factor 23							40.0	46.0	44.0					2																	27373013		2203	4300	6503	SO:0001583	missense	150921	0	0					g.chr2:27373013C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.245C>T	chr2.hg19:g.27373013C>T	ENSP00000296096:p.Ala82Val	1						p.A82V	NM_175769.2	NP_786951.1	2	2	4	2.171355	Q7RTU1	TCF23_HUMAN		2	375	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	0	1	hg19	c.245C>T	CCDS33163.1	0	.	.	.	.	.	.	.	.	.	.	C	33	5.221376	0.95139	.	.	ENSG00000163792	ENST00000296096	D	0.97906	-4.6	5.66	5.66	0.87406	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.054766	0.64402	D	0.000001	D	0.98150	0.9389	M	0.65975	2.015	0.53688	D	0.999972	D	0.60160	0.987	P	0.60789	0.879	D	0.98239	1.0487	10	0.48119	T	0.1	-6.4656	17.2403	0.87011	0.0:1.0:0.0:0.0	.	82	Q7RTU1	TCF23_HUMAN	V	82	ENSP00000296096:A82V	ENSP00000296096:A82V	A	+	2	0	0	TCF23	27226517	27226517	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.750000	0.68712	2.680000	0.91292	0.561000	0.74099	GCC	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	0	0	1	2	2	2	2	0	0	0	0	54	54	54	53	1	3.280000	-2.900013	1	0.240000	NM_175769		0	5	6	0	264	261	0		1	0		0	0	54	0	0	0.936888	1.675961e-03	0	0	0	3	0	5	264
CCDC88A	55704	broad.mit.edu	37	2	55570840	55570840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:55570840G>T	ENST00000436346.1	-	12	2118	c.1277C>A	c.(1276-1278)tCa>tAa	p.S426*	CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	426					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAGATGTAATGATTCATCCAT	0.318																																						ENST00000436346.1	0.400000	0.120000	3.300000e-01	1.800000e-01	0.240000	0.259040	0.240000	0.240000																										0				69						c.(1276-1278)tCa>tAa		coiled-coil domain containing 88A							132.0	127.0	129.0					2																	55570840		2203	4300	6503	SO:0001587	stop_gained	55704	0	0					g.chr2:55570840G>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1277C>A	chr2.hg19:g.55570840G>T	ENSP00000410608:p.Ser426*	1					AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*	p.S426*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	2	2	4	2.171355	Q3V6T2	GRDN_HUMAN		12	2118	-			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	0	1	hg19	c.1277C>A		0	.	.	.	.	.	.	.	.	.	.	G	40	8.219217	0.98712	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.39475	U	0.001343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3066	20.3011	0.98612	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000263630:S426X	S	-	2	0	0	CCDC88A	55424344	55424344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.804000	0.96469	0.650000	0.86243	TCA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	20	2	2	1	1	1	1	83	83	83	81	1	3.280000	-2.823380	1	0.240000	NM_017571		0	12	12	0	503	496	0		0	0		1	0	83	0	0	0.096119	3.145949e-02	0	0	0	11	0	12	503
CNRIP1	25927	broad.mit.edu	37	2	68544303	68544303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:68544303G>A	ENST00000263655.3	-	2	921	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	106										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGTGATCTGGATGGGTTGC	0.468																																						ENST00000263655.3	0.200000	0.040000	1.600000e-01	7.000000e-02	0.110000	0.119310	0.110000	0.120000																										0				9						c.(316-318)Cag>Tag		cannabinoid receptor interacting protein 1							186.0	161.0	170.0					2																	68544303		2203	4300	6503	SO:0001587	stop_gained	25927	0	0					g.chr2:68544303G>A	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.316C>T	chr2.hg19:g.68544303G>A	ENSP00000263655:p.Gln106*	1					CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*	p.Q106*	NM_015463.2	NP_056278.1	2	2	4	2.171355	Q96F85	CNRP1_HUMAN		2	921	-			B2R4D0|Q49AN4|Q9UFZ0	Nonsense_Mutation	SNP	ENST00000263655.3	0	1	hg19	c.316C>T	CCDS1886.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.464642	0.97590	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.3606	17.0178	0.86424	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000263655:Q106X	Q	-	1	0	0	CNRIP1	68397807	68397807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.967000	0.93402	2.697000	0.92050	0.555000	0.69702	CAG	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.468	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	0	0	1	2	17	3	2	1	1	1	1	179	179	179	177	1	3.280000	-2.458060	0	0.240000	NM_015463		0	9	11	0	854	837	0		0	0		1	0	179	0	0	0.075600	4.221386e-02	0	0	0	63	0	9	854
DYSF	8291	broad.mit.edu	37	2	71891480	71891480	+	Nonsense_Mutation	SNP	G	G	T	rs368142107		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:71891480G>T	ENST00000258104.3	+	45	5246	c.4969G>T	c.(4969-4971)Gaa>Taa	p.E1657*	DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1657	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCCAAGGACGAAAAGATCGG	0.552																																						ENST00000258104.3	0.370000	0.090000	3.000000e-01	1.500000e-01	0.210000	0.227314	0.210000	0.200000																										0				111	GRCh37	CM070072	DYSF	M		c.(4969-4971)Gaa>Taa		dysferlin							113.0	92.0	99.0					2																	71891480		2203	4300	6503	SO:0001587	stop_gained	8291	0	0					g.chr2:71891480G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4969G>T	chr2.hg19:g.71891480G>T	ENSP00000258104:p.Glu1657*	1					DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*	p.E1657*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	2	2	4	2.171355	O75923	DYSF_HUMAN		45	5246	+			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	0	1	hg19	c.4969G>T	CCDS1918.1	0	.	.	.	.	.	.	.	.	.	.	G	48	13.931724	0.99771	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6304	16.0724	0.80943	0.0:0.0:1.0:0.0	.	.	.	.	X	1688;1674;1695;1678;1657;1689;1658;1665;1679;1696;1675	.	ENSP00000258104:E1657X	E	+	1	0	0	DYSF	71744988	71744988	1.000000	0.71417	0.932000	0.37286	0.935000	0.57460	7.864000	0.87037	2.393000	0.81446	0.561000	0.74099	GAA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	0	1	2	2	2	2	0	0	0	0	80	80	80	80	1	3.280000	-3.152065	1	0.240000	NM_003494		0	9	9	0	442	434	0		1	0		0	0	80	0	0	0.993770	1.298296e-01	0	0	0	28	0	9	442
NAT8	9027	broad.mit.edu	37	2	73868603	73868603	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:73868603G>A	ENST00000272425.3	-	2	302	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.L51L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGTAGGGCGAGGGGCCCCC	0.612																																						ENST00000272425.3	0.250000	0.050000	2.000000e-01	8.000000e-02	0.130000	0.145429	0.130000	0.120000																										1	Substitution - coding silent(1)	p.L51L(1)	kidney(1)	9						c.(151-153)ctC>ctT		N-acetyltransferase 8 (GCN5-related, putative)							75.0	89.0	84.0					2																	73868603		2203	4300	6503	SO:0001819	synonymous_variant	9027	3	121410	37				g.chr2:73868603G>A	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.153C>T	chr2.hg19:g.73868603G>A		1						p.L51L	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	2	2	4	2.171355				2	302	-				Silent	SNP	ENST00000272425.3	0	1	hg19	c.153C>T	CCDS1926.1	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	0	0	1	2	2	2	2	0	0	0	0	127	127	127	124	1	3.280000	-2.920183	1	0.240000	NM_003960		0	7	7	0	558	549	0		1			0	0	127	0	0	0.979572	0	0	0	0	0	0	7	558
TMEM131	23505	broad.mit.edu	37	2	98422018	98422018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:98422018G>T	ENST00000186436.5	-	20	2432	c.2204C>A	c.(2203-2205)tCa>tAa	p.S735*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	735						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAAACCTTTGATTTTTTTCC	0.358																																						ENST00000186436.5	0.420000	0.190000	3.600000e-01	2.400000e-01	0.290000	0.305248	0.290000	0.290000																										0				57						c.(2203-2205)tCa>tAa		transmembrane protein 131							176.0	188.0	184.0					2																	98422018		1805	4073	5878	SO:0001587	stop_gained	23505	0	0					g.chr2:98422018G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2204C>A	chr2.hg19:g.98422018G>T	ENSP00000186436:p.Ser735*	1						p.S735*	NM_015348.1	NP_056163.1	2	2	4	2.171355	Q92545	TM131_HUMAN		20	2432	-				Nonsense_Mutation	SNP	ENST00000186436.5	0	1	hg19	c.2204C>A	CCDS46368.1	0	.	.	.	.	.	.	.	.	.	.	G	42	9.342510	0.99142	.	.	ENSG00000075568	ENST00000186436	.	.	.	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.120296	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5958	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	735	.	ENSP00000186436:S735X	S	-	2	0	0	TMEM131	97788450	97788450	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	TCA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.358	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	0	0	1	2	2	2	2	0	0	0	0	201	201	201	197	1	3.280000	-2.633335	1	0.240000	XM_371542		0	29	30	0	983	966	0		1	0		0	0	201	0	0	1.000000	3.405676e-01	0	0	0	41	0	29	983
HDLBP	3069	broad.mit.edu	37	2	242194513	242194513	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:242194513C>A	ENST00000391975.1	-	9	1368	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	381	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTTTCTTGCCAATGATGAAA	0.478																																						ENST00000391975.1	1.000000	0.040000	1.700000e-01	6.000000e-02	0.100000	0.217152	0.100000	0.110000																										0				44						c.(1141-1143)Ggc>Tgc		high density lipoprotein binding protein							196.0	209.0	205.0					2																	242194513		2203	4300	6503	SO:0001583	missense	3069	0	0					g.chr2:242194513C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1141G>T	chr2.hg19:g.242194513C>A	ENSP00000375836:p.Gly381Cys	0					HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C	p.G381C	NM_203346.3	NP_976221	2	2	4	2.076171	Q00341	VIGLN_HUMAN		9	1368	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	0	1	hg19	c.1141G>T	CCDS2547.1	0	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.374320|5.374320|5.374320	0.95923|0.95923|0.95923	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141|ENST00000373292	D;D;D;D|.|.	0.88741|.|.	-2.42;-2.42;-2.42;-2.42|.|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84543|0.84543|0.84543	0.5495|0.5495|0.5495	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0|.|.	D|D|D	0.85095|0.85095|0.85095	0.0954|0.0954|0.0954	10|5|5	0.87932|.|.	D|.|.	0|.|.	-37.045|-37.045|-37.045	20.3539|20.3539|20.3539	0.98825|0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	381;348;381|.|.	B2R5V9;E7EM71;Q00341|.|.	.;.;VIGLN_HUMAN|.|.	C|F|L	381;381;381;348|258|189	ENSP00000375836:G381C;ENSP00000375837:G381C;ENSP00000312042:G381C;ENSP00000399139:G348C|.|.	ENSP00000312042:G381C|.|.	G|L|W	-|-|-	1|3|2	0|2|0	0|2|0	HDLBP|HDLBP|HDLBP	241843186|241843186|241843186	241843186|241843186|241843186	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.755000|7.755000|7.755000	0.85180|0.85180|0.85180	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|TTG|TGG	0.367510		TCGA-YB-A89D-01A-12D-A36O-08	0.478	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	0	0	1	2	2	2	2	0	0	0	0	250	250	250	246	1	3.280000	-2.063559	0	0.240000	NM_203346		0	12	14	0	1228	1208	0		1	0		0	0	250	0	0	0.999022	8.645303e-01	0	0	0	366	0	12	1228
COL6A5	256076	broad.mit.edu	37	3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:130174477C>A	ENST00000432398.2	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2253K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333																																						ENST00000432398.2	0.420000	0.100000	3.300000e-01	1.600000e-01	0.230000	0.252148	0.230000	0.220000																										2	Substitution - Missense(2)	p.Q292K(1)|p.Q2253K(1)	kidney(2)	44						c.(6757-6759)Caa>Aaa		collagen, type VI, alpha 5							49.0	48.0	49.0					3																	130174477		1804	4064	5868	SO:0001583	missense	256076	0	0					g.chr3:130174477C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6757C>A	chr3.hg19:g.130174477C>A	ENSP00000390895:p.Gln2253Lys	0					COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2253K	p.Q2253K	NM_153264.5	NP_694996.5	1	2	3	1.937366	A8TX70	CO6A5_HUMAN		37	7251	+			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	0	1	hg19	c.6757C>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.821|3.821	-0.037685|-0.037685	0.07497|0.07497	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.87;-0.75|.	4.26|4.26	0.026|0.026	0.14148|0.14148	4.26|4.26	0.026|0.026	0.14148|0.14148	.|.	2.119150|.	0.02670|.	N|.	0.108475|.	T|.	0.21841|.	0.0526|.	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.30031|.	-0.9992|.	10|.	0.02654|.	T|.	1|.	.|.	8.2937|8.2937	0.31973|0.31973	0.3027:0.5542:0.1431:0.0|0.3027:0.5542:0.1431:0.0	.|.	2253;2253|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|X	2253;2253;196;88|504	ENSP00000390895:Q2253K;ENSP00000265379:Q2253K;ENSP00000362250:Q196K;ENSP00000424968:Q88K|.	ENSP00000265379:Q2253K|.	Q|S	+|+	1|2	0|0	0|0	COL6A5|COL6A5	131657167|131657167	131657167|131657167	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.464000|-0.464000	0.06688|0.06688	0.170000|0.170000	0.19704|0.19704	-0.846000|-0.846000	0.03041|0.03041	CAA|TCA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.333	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	2	2	2	2	0	0	0	0	52	52	52	51	1	3.280000	-8.123208	1	0.240000	NM_153264		0	8	7	0	321	318	0		1	0		0	0	52	0	0	0.989055	0	0	0	0	1	0	8	321
PLCH1	23007	broad.mit.edu	37	3	155241698	155241698	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:155241698G>T	ENST00000340059.7	-	10	1421	c.1422C>A	c.(1420-1422)ttC>ttA	p.F474L	PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L|PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000460012.1_Missense_Mutation_p.F456L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	474					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGGAGCTTGAATTTGCACT	0.423																																						ENST00000340059.7	0.320000	0.100000	2.600000e-01	1.400000e-01	0.190000	0.206379	0.190000	0.190000																										0				107						c.(1420-1422)ttC>ttA		phospholipase C, eta 1							244.0	222.0	229.0					3																	155241698		2203	4300	6503	SO:0001583	missense	23007	0	0					g.chr3:155241698G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1422C>A	chr3.hg19:g.155241698G>T	ENSP00000345988:p.Phe474Leu	0					PLCH1_ENST00000460012.1_Missense_Mutation_p.F456L|PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L|PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L	p.F474L	NM_001130960.1	NP_001124432.1	1	2	3	1.940373	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)	10	1421	-			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	0	1	hg19	c.1422C>A	CCDS46939.1	0	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484579	0.12641	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.48	-0.01	0.13998	5.48	-0.01	0.13998	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.215323	0.44483	D	0.000450	T	0.10551	0.0258	N	0.04018	-0.295	0.36115	D	0.845089	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.003;0.001	T	0.32929	-0.9888	10	0.02654	T	1	.	2.8455	0.05541	0.3453:0.0932:0.4209:0.1405	.	456;474;474	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	474;456;474;474;456;456	ENSP00000419100:F474L;ENSP00000417502:F456L;ENSP00000402759:F474L;ENSP00000345988:F474L;ENSP00000335469:F456L;ENSP00000412977:F456L	ENSP00000335469:F456L	F	-	3	2	2	PLCH1	156724392	156724392	0.992000	0.36948	0.998000	0.56505	0.985000	0.73830	0.126000	0.15769	0.036000	0.15547	0.563000	0.77884	TTC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	0	0	1	2	2	2	2	0	0	0	0	149	149	149	148	1	3.280000	-2.761894	1	0.240000	NM_014996		0	13	13	0	616	611	0		1	0		0	0	149	0	0	0.999512	3.054130e-03	0	0	0	4	0	13	616
KCNH8	131096	broad.mit.edu	37	3	19431991	19431991	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:19431991G>T	ENST00000328405.2	+	6	1096	c.830G>T	c.(829-831)cGa>cTa	p.R277L	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'Flank	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	277					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTAAATTTCCGAACAACTTAT	0.358																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2	0.470000	0.180000	3.900000e-01	2.400000e-01	0.310000	0.322996	0.310000	0.300000																										0				77						c.(829-831)cGa>cTa		potassium voltage-gated channel, subfamily H (eag-related), member 8							88.0	93.0	91.0					3																	19431991		2203	4300	6503	SO:0001583	missense	131096	0	0					g.chr3:19431991G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.830G>T	chr3.hg19:g.19431991G>T	ENSP00000328813:p.Arg277Leu	0					KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'Flank	p.R277L	NM_144633.2	NP_653234.2	1	2	3	1.907330	Q96L42	KCNH8_HUMAN		6	1096	+			B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	1	0	hg19	c.830G>T	CCDS2632.1	0	.	.	.	.	.	.	.	.	.	.	G	33	5.217758	0.95104	.	.	ENSG00000183960	ENST00000328405	D	0.98178	-4.77	5.78	5.78	0.91487	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.27027	U	0.021300	D	0.98651	0.9548	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98974	1.0802	9	.	.	.	.	20.0085	0.97443	0.0:0.0:1.0:0.0	.	277;277	B7Z398;Q96L42	.;KCNH8_HUMAN	L	277	ENSP00000328813:R277L	.	R	+	2	0	0	KCNH8	19406995	19406995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.723000	0.93209	0.650000	0.86243	CGA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.358	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	1	0	1	2	2	2	2	0	0	0	0	124	124	124	122	1	3.280000	-2.955643	1	0.240000	NM_144633		0	17	16	0	499	490	0		1	0		0	0	124	0	0	0.999960	0	0	0	0	1	0	17	499
NGLY1	55768	broad.mit.edu	37	3	25770651	25770651	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:25770651G>T	ENST00000280700.5	-	10	1744	c.1584C>A	c.(1582-1584)ttC>ttA	p.F528L	NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000428257.1_Missense_Mutation_p.F510L|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	528	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAACTTTTCTGAATATAGATT	0.313																																						ENST00000280700.5	0.420000	0.180000	3.600000e-01	2.300000e-01	0.290000	0.301443	0.290000	0.300000																										0				18						c.(1582-1584)ttC>ttA		N-glycanase 1							128.0	119.0	122.0					3																	25770651		2202	4299	6501	SO:0001583	missense	55768	0	0					g.chr3:25770651G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1584C>A	chr3.hg19:g.25770651G>T	ENSP00000280700:p.Phe528Leu	0					NGLY1_ENST00000428257.1_Missense_Mutation_p.F510L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L	p.F528L	NM_018297.3	NP_060767.2	1	2	3	1.907330	Q96IV0	NGLY1_HUMAN		10	1744	-			B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	1	1	hg19	c.1584C>A	CCDS33719.1	0	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857742	0.71834	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.82	4.0	0.46444	5.82	4.0	0.46444	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.199148	0.53938	D	0.000042	D	0.96706	0.8925	M	0.82193	2.58	0.80722	D	1	D;D;P;D	0.69078	0.997;0.966;0.937;0.993	P;P;P;P	0.61397	0.888;0.466;0.814;0.618	D	0.96101	0.9069	10	0.59425	D	0.04	-7.2391	7.6939	0.28583	0.1442:0.3228:0.533:0.0	.	486;510;528;528	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	L	510;528;528;507;486	ENSP00000387430:F510L;ENSP00000280700:F528L;ENSP00000307980:F507L;ENSP00000389888:F486L	ENSP00000280700:F528L	F	-	3	2	2	NGLY1	25745655	25745655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.762000	0.47597	1.439000	0.47511	0.561000	0.74099	TTC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.313	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2	0	0	1	2	2	2	2	0	0	0	0	137	137	137	134	1	3.280000	-2.982957	1	0.240000			0	22	20	0	686	669	0		1	0		0	0	137	0	0	0.999998	4.959406e-01	0	1	0	51	0	22	686
PTPRG	5793	broad.mit.edu	37	3	62268492	62268492	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:62268492G>A	ENST00000474889.1	+	28	4380	c.4003G>A	c.(4003-4005)Gtc>Atc	p.V1335I	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1335	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACTTATCAACGTCATCAAGGA	0.398																																						ENST00000474889.1	1.000000	0.770000	1	8.500000e-01	0.940000	0.936407	0.940000	1.000000																										0				62						c.(4003-4005)Gtc>Atc		protein tyrosine phosphatase, receptor type, G							175.0	157.0	163.0					3																	62268492		2203	4300	6503	SO:0001583	missense	5793	0	0					g.chr3:62268492G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4003G>A	chr3.hg19:g.62268492G>A	ENSP00000418112:p.Val1335Ile	0					PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	p.V1335I	NM_002841.3	NP_002832.3	1	2	3	1.907330	P23470	PTPRG_HUMAN		28	4380	+			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	1	1	hg19	c.4003G>A	CCDS2895.1	1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036448	0.35893	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83250	-1.7;-1.7	5.38	5.38	0.77491	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121307	0.56097	D	0.000033	T	0.56688	0.2002	N	0.00991	-1.07	0.58432	D	0.999999	B;P;B	0.39940	0.029;0.696;0.382	B;B;B	0.30401	0.011;0.115;0.036	T	0.65717	-0.6100	10	0.13853	T	0.58	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	581;1306;1335	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	I	1335;1306	ENSP00000418112:V1335I;ENSP00000295874:V1306I	ENSP00000295874:V1306I	V	+	1	0	0	PTPRG	62243532	62243532	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	6.473000	0.73572	2.799000	0.96334	0.650000	0.86243	GTC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.398	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	1	0	0	2	2	2	2	0	0	0	0	163	163	163	161	1	3.280000	-20.000000	1	0.240000	NM_002841		0	92	91	0	811	807	1		1	1		0	0	163	0	0	1.000000	8.360778e-01	0	3	0	28	0	92	811
ECT2	1894	broad.mit.edu	37	3	172473162	172473162	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:172473162A>C	ENST00000392692.3	+	3	384	c.208A>C	c.(208-210)Aag>Cag	p.K70Q	ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000417960.1_Missense_Mutation_p.K69Q|ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	70					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGCCTTAAAGGTACGGAG	0.313																																						ENST00000392692.3	1.000000	0.680000	1	8.200000e-01	0.990000	0.934345	0.990000	1.000000																										0				37						c.(208-210)Aag>Cag		epithelial cell transforming 2							97.0	104.0	101.0					3																	172473162		2203	4298	6501	SO:0001583	missense	1894	0	0					g.chr3:172473162A>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.208A>C	chr3.hg19:g.172473162A>C	ENSP00000376457:p.Lys70Gln	0					ECT2_ENST00000417960.1_Missense_Mutation_p.K69Q|ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q	p.K70Q	NM_001258315.1	NP_001245244.1	1	2	3	1.940373	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)	3	384	+	Ovarian(172;0.00197)|Breast(254;0.158)		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	1	1	hg19	c.208A>C	CCDS58860.1	1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234752	0.09969	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.02;-0.19;-0.04;-0.02;0.97;0.93;0.87;1.01;0.87;-0.02;-0.19	5.58	3.14	0.36123	5.58	3.14	0.36123	.	0.162995	0.56097	N	0.000021	T	0.31949	0.0813	N	0.11560	0.145	0.32649	N	0.51964	B;B;B;B	0.16166	0.005;0.015;0.001;0.016	B;B;B;B	0.20184	0.008;0.028;0.011;0.006	T	0.34576	-0.9823	10	0.02654	T	1	-6.7187	3.8864	0.09100	0.5385:0.1802:0.2813:0.0	.	70;70;70;69	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	70;70;70;69;69;70;70;70;70;70;70	ENSP00000232458:K70Q;ENSP00000376457:K70Q;ENSP00000401910:K70Q;ENSP00000415876:K69Q;ENSP00000403501:K69Q;ENSP00000412331:K70Q;ENSP00000403446:K70Q;ENSP00000412028:K70Q;ENSP00000389108:K70Q;ENSP00000412259:K70Q;ENSP00000443160:K70Q	ENSP00000232458:K70Q	K	+	1	0	0	ECT2	173955856	173955856	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.277000	0.33167	0.384000	0.24942	0.402000	0.26972	AAG	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.313	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	1	0	1	2	2	2	2	0	0	0	0	35	35	35	35	1	3.280000	-20.000000	1	0.240000	NM_018098		0	28	28	0	236	234	1		1	0		0	0	35	0	0	1.000000	3.805722e-01	0	0	0	12	0	28	236
ADH1A	124	broad.mit.edu	37	4	100203666	100203666	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:100203666G>A	ENST00000209668.2	-	6	778	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	222					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GATGTCCACCGCAATGATTCT	0.532																																						ENST00000209668.2	1.000000	0.140000	2.800000e-01	1.800000e-01	0.220000	0.267174	0.220000	0.230000																										0				25						c.(664-666)gCg>gTg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Ethanol(DB00898)|Fomepizole(DB01213)						286.0	289.0	288.0					4																	100203666		2203	4300	6503	SO:0001583	missense	124	1	121412	35				g.chr4:100203666G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.665C>T	chr4.hg19:g.100203666G>A	ENSP00000209668:p.Ala222Val	1					RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA	p.A222V	NM_000667.3	NP_000658.1	2	2	4	2.119847	P07327	ADH1A_HUMAN		6	778	-			A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	0	1	hg19	c.665C>T	CCDS3648.1	0	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588433	0.28357	.	.	ENSG00000187758	ENST00000209668	T	0.04970	3.52	3.11	-0.519	0.11939	3.11	-0.519	0.11939	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.245941	0.39146	N	0.001456	T	0.19446	0.0467	M	0.74881	2.28	0.27511	N	0.951696	P;D	0.76494	0.877;0.999	B;P	0.60541	0.175;0.876	T	0.10405	-1.0631	10	0.59425	D	0.04	-7.6741	15.9733	0.80036	0.0:0.6313:0.3687:0.0	.	13;222	B4E1R1;P07327	.;ADH1A_HUMAN	V	222	ENSP00000209668:A222V	ENSP00000209668:A222V	A	-	2	0	0	ADH1A	100422689	100422689	0.001000	0.12720	0.529000	0.27951	0.148000	0.21650	-0.192000	0.09587	0.061000	0.16311	0.460000	0.39030	GCG	0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.532	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	0	0	1	2	2	2	2	0	0	0	0	412	412	412	430	1	3.280000	-2.256523	0	0.240000	NM_000667		0	32	30	0	1423	1344	0		1	0		0	0	412	0	0	1.000000	5.274485e-04	0	0	0	2	0	32	1423
CENPE	1062	broad.mit.edu	37	4	104084687	104084687	+	Silent	SNP	C	C	A	rs575353274		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:104084687C>A	ENST00000265148.3	-	17	1760	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	557					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTTAAGTTCGAAATTTCAT	0.284													C|||	1	0.000199681	0.0	0.0	5008	,	,		15204	0.001		0.0	False		,,,				2504	0.0					ENST00000265148.3	1.000000	0.270000	6.700000e-01	3.700000e-01	0.500000	0.530738	0.500000	0.470000																										0				101						c.(1669-1671)tcG>tcT		centromere protein E, 312kDa																																				SO:0001819	synonymous_variant	1062	1	121352	36				g.chr4:104084687C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1671G>T	chr4.hg19:g.104084687C>A		1					CENPE_ENST00000380026.3_Intron	p.S557S	NM_001813.2	NP_001804.2	2	2	4	2.119847	Q02224	CENPE_HUMAN		17	1760	-			A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	1	0	hg19	c.1671G>T	CCDS34042.1	0																																																																																								0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	38	38	38	38	1	3.280000	-4.375522	1	0.240000			0	13	13	0	265	263	0		1			0	0	38	0	0	0.999535	0	0	0	0	0	0	13	265
RGS12	6002	broad.mit.edu	37	4	3419185	3419185	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:3419185G>T	ENST00000344733.5	+	9	3582	c.2678G>T	c.(2677-2679)cGg>cTg	p.R893L	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.R893L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	893					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAAGAAGCGGAAAGGCGCG	0.552																																						ENST00000344733.5	1.000000	0.160000	4.800000e-01	2.300000e-01	0.330000	0.377314	0.330000	0.310000																										0				43						c.(2677-2679)cGg>cTg		regulator of G-protein signaling 12							55.0	57.0	56.0					4																	3419185		2203	4300	6503	SO:0001583	missense	6002	0	0					g.chr4:3419185G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2678G>T	chr4.hg19:g.3419185G>T	ENSP00000339381:p.Arg893Leu	1					RGS12_ENST00000336727.3_Missense_Mutation_p.R893L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L	p.R893L	NM_198229.2	NP_937872.1	2	2	4	2.119847	O14924	RGS12_HUMAN		9	3582	+			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	1	1	hg19	c.2678G>T	CCDS3366.1	0	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440438	0.43326	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37235	1.49;1.49;1.49;1.21;1.23;1.26	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.065361	0.64402	D	0.000019	T	0.49508	0.1561	M	0.65975	2.015	0.09310	N	0.999992	P;D;P;D;D;B;P;D;P	0.60575	0.896;0.988;0.802;0.988;0.977;0.393;0.896;0.968;0.937	P;P;P;P;D;B;P;P;P	0.63703	0.604;0.724;0.483;0.724;0.917;0.169;0.676;0.734;0.822	T	0.39418	-0.9615	10	0.42905	T	0.14	-19.7633	6.3948	0.21607	0.2155:0.0:0.7845:0.0	.	235;92;235;92;235;245;291;893;893	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	L	893;893;893;291;245;235	ENSP00000339381:R893L;ENSP00000338509:R893L;ENSP00000372238:R893L;ENSP00000304459:R291L;ENSP00000342133:R245L;ENSP00000438888:R235L	ENSP00000304459:R291L	R	+	2	0	0	RGS12	3388983	3388983	0.980000	0.34600	0.041000	0.18516	0.357000	0.29423	4.395000	0.59678	1.982000	0.57802	0.563000	0.77884	CGG	0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.552	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	0	0	1	2	2	2	2	0	0	0	0	53	53	53	52	1	3.280000	-3.153069	1	0.240000	NM_002926		0	9	9	0	282	274	0		1	0		0	0	53	0	0	0.993554	4.328002e-01	0	0	0	44	0	9	282
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A	rs192894188		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17529	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				116						c.(1429-1431)cGt>cAt		slit homolog 2 (Drosophila)							86.0	98.0	94.0					4																	20525792		2203	4300	6503	SO:0001583	missense	9353	3	121410	37				g.chr4:20525792G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1430G>A	chr4.hg19:g.20525792G>A	ENSP00000422591:p.Arg477His	1					SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H	p.R477H	NM_004787.1	NP_004778.1	2	2	4	2.119847	O94813	SLIT2_HUMAN		14	1682	+			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	1	1	hg19	c.1430G>A	CCDS3426.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.335323	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.45;-1.46;-1.37;-1.43	5.93	5.93	0.95920	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	D	0.87886	0.2681	10	0.72032	D	0.01	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	477;477	O94813-3;O94813	.;SLIT2_HUMAN	H	477;477;481;481;481	ENSP00000427548:R477H;ENSP00000422591:R477H;ENSP00000273739:R481H;ENSP00000422261:R481H	ENSP00000273739:R481H	R	+	2	0	0	SLIT2	20134890	20134890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	CGT	0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.478	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1	2	2	2	2	0	0	0	0	100	100	100	100	1	3.280000	-20.000000	1	0.240000			0	114	113	0	398	392	0		1	0		0	0	100	0	0	1.000000	9.625000e-01	0	0	0	21	0	114	398
GPR125	166647	broad.mit.edu	37	4	22389706	22389706	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:22389706C>A	ENST00000334304.5	-	19	3857	c.3588G>T	c.(3586-3588)acG>acT	p.T1196T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1196					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTTCCACGCTCGTTGGGACAT	0.517																																						ENST00000334304.5	1.000000	0.210000	4.300000e-01	2.700000e-01	0.340000	0.375625	0.340000	0.350000																										0				56						c.(3586-3588)acG>acT		G protein-coupled receptor 125							95.0	88.0	91.0					4																	22389706		2203	4300	6503	SO:0001819	synonymous_variant	166647	0	0					g.chr4:22389706C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3588G>T	chr4.hg19:g.22389706C>A		1					GPR125_ENST00000282943.5_5'UTR	p.T1196T	NM_145290.3	NP_660333.2	2	2	4	2.119847	Q8IWK6	GP125_HUMAN		19	3857	-		Breast(46;0.198)	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	1	0	hg19	c.3588G>T	CCDS33964.1	0																																																																																								0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.517	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1	2	2	2	2	0	0	0	0	176	176	176	176	1	3.280000	-2.774725	1	0.240000			0	26	26	0	770	749	0		1	0		0	0	176	0	0	1.000000	7.303879e-01	0	0	0	78	0	26	770
ATP8A1	10396	broad.mit.edu	37	4	42581933	42581933	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:42581933C>A	ENST00000381668.5	-	11	1128	c.897G>T	c.(895-897)ttG>ttT	p.L299F	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L299F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	299					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AAAATAAAATCAAAATTTGTA	0.343																																						ENST00000381668.5	1.000000	0.280000	7.300000e-01	3.900000e-01	0.530000	0.568776	0.530000	0.510000																										0				51						c.(895-897)ttG>ttT		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						65.0	65.0	65.0					4																	42581933		2203	4300	6503	SO:0001583	missense	10396	0	0					g.chr4:42581933C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.897G>T	chr4.hg19:g.42581933C>A	ENSP00000371084:p.Leu299Phe	1					ATP8A1_ENST00000264449.10_Missense_Mutation_p.L299F	p.L299F	NM_006095.2	NP_006086.1	2	2	4	2.119847	Q9Y2Q0	AT8A1_HUMAN		11	1128	-			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	1	0	hg19	c.897G>T	CCDS3466.1	0	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570735	0.86542	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.77750	-1.12;-1.12	5.66	5.66	0.87406	5.66	5.66	0.87406	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000001	D	0.88980	0.6585	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.997	D	0.89136	0.3513	10	0.72032	D	0.01	.	20.1225	0.97967	0.0:1.0:0.0:0.0	.	299;299;299	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	F	299	ENSP00000371084:L299F;ENSP00000264449:L299F	ENSP00000264449:L299F	L	-	3	2	2	ATP8A1	42276690	42276690	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.501000	0.35693	2.831000	0.97527	0.650000	0.86243	TTG	0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	0	2	2	2	2	0	0	0	0	37	37	37	36	1	3.280000	-4.665690	1	0.240000	NM_006095		0	11	11	0	209	203	0		1	0		0	0	37	0	0	0.998202	1.722212e-02	0	0	0	4	0	11	209
SPATA18	132671	broad.mit.edu	37	4	52960706	52960706	+	Missense_Mutation	SNP	G	G	A	rs562919654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:52960706G>A	ENST00000295213.4	+	12	1951	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTCGAAGTCGGAGTCCTTCT	0.348																																						ENST00000295213.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				41						c.(1576-1578)cGg>cAg		spermatogenesis associated 18							116.0	121.0	119.0					4																	52960706		2203	4300	6503	SO:0001583	missense	132671	1	121412	33				g.chr4:52960706G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1577G>A	chr4.hg19:g.52960706G>A	ENSP00000295213:p.Arg526Gln	1					SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	p.R526Q	NM_145263.2	NP_660306.1	2	2	4	2.119847	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)	12	1951	+			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	1	1	hg19	c.1577G>A	CCDS3489.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719010	0.89205	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36340	1.26;1.29	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.55955	0.1953	M	0.61703	1.905	0.38418	D	0.946104	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.60459	-0.7259	10	0.66056	D	0.02	-9.9646	13.6443	0.62272	0.0:0.0:1.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	Q	526;494	ENSP00000295213:R526Q;ENSP00000415309:R494Q	ENSP00000295213:R526Q	R	+	2	0	0	SPATA18	52655463	52655463	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.694000	0.61760	2.677000	0.91161	0.655000	0.94253	CGG	0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.348	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	1	0	1	2	2	2	2	0	0	0	0	99	99	99	98	1	3.280000	-2.732022	1	0.240000	NM_145263		0	118	116	0	478	470	1		1	1		0	0	99	0	0	1.000000	3.413696e-01	0	3	0	3	0	118	478
RPL34	6164	broad.mit.edu	37	4	109546320	109546320	+	Silent	SNP	C	C	A	rs143745435		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:109546320C>A	ENST00000394668.2	+	5	372	c.306C>A	c.(304-306)atC>atA	p.I102I	RPL34_ENST00000394665.1_Silent_p.I102I|RPL34_ENST00000502534.1_Silent_p.I102I|RPL34_ENST00000394667.3_Silent_p.I102I|RPL34_ENST00000506397.1_Silent_p.I102I	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	102					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		AGCAGAAAATCGTTGTGAAAG	0.318																																						ENST00000394668.2	1.000000	0.230000	5.900000e-01	3.100000e-01	0.430000	0.466448	0.430000	0.410000																										0				4						c.(304-306)atC>atA		ribosomal protein L34							40.0	40.0	40.0					4																	109546320		2203	4300	6503	SO:0001819	synonymous_variant	6164	1	121410	32				g.chr4:109546320C>A	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"""L ribosomal proteins"""	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.306C>A	chr4.hg19:g.109546320C>A		1					RPL34_ENST00000502534.1_Silent_p.I102I|RPL34_ENST00000394667.3_Silent_p.I102I|RPL34_ENST00000506397.1_Silent_p.I102I|RPL34_ENST00000394665.1_Silent_p.I102I	p.I102I	NM_033625.2	NP_296374.1	2	2	4	2.119847	P49207	RL34_HUMAN		5	372	+		Hepatocellular(203;0.217)	Q6FG66|Q9BUZ2	Silent	SNP	ENST00000394668.2	1	0	hg19	c.306C>A	CCDS3680.1	0																																																																																								0.379896		TCGA-YB-A89D-01A-12D-A36O-08	0.318	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	1	0	1	2	2	2	2	0	0	0	0	35	35	35	33	1	3.280000	-3.040405	1	0.240000	NM_033625, NM_000995		0	12	11	0	286	283	0		1	1		0	0	35	0	0	0.999095	1	0	2	0	4648	0	12	286
DDX46	9879	broad.mit.edu	37	5	134109505	134109505	+	Silent	SNP	C	C	A	rs140064519		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:134109505C>A	ENST00000354283.4	+	5	702	c.567C>A	c.(565-567)atC>atA	p.I189I	DDX46_ENST00000452510.2_Silent_p.I189I			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	189					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAAGGAAATCGAAGAGATGA	0.353																																					Colon(13;391 453 4901 21675 24897)	ENST00000354283.4	0.590000	0.210000	4.800000e-01	2.800000e-01	0.370000	0.388747	0.370000	0.360000																										0				30						c.(565-567)atC>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							134.0	134.0	134.0					5																	134109505		2203	4300	6503	SO:0001819	synonymous_variant	9879	0	0					g.chr5:134109505C>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.567C>A	chr5.hg19:g.134109505C>A		0					DDX46_ENST00000452510.2_Silent_p.I189I	p.I189I			1	2	3	1.962891	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	5	702	+			O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	1	0	hg19	c.567C>A	CCDS34240.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.353	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	1	0	1	2	2	2	2	0	0	0	0	64	64	64	64	1	3.280000	-3.108651	1	0.240000	NM_014829		0	14	13	0	342	336	0		1	0		0	0	64	0	0	0.999733	6.717840e-01	0	0	0	57	0	14	342
PCDHA9	9752	broad.mit.edu	37	5	140228096	140228096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:140228096C>T	ENST00000532602.1	+	1	1049	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.R6*	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACTCAAGTCGAGGAGATCC	0.488																																					Melanoma(55;1800 1972 14909)	ENST00000532602.1	1.000000	0.860000	1	9.600000e-01	0.990000	0.985901	0.990000	1.000000																										0				59						c.(16-18)Cga>Tga		protocadherin alpha 9							84.0	87.0	86.0					5																	140228096		2197	4269	6466	SO:0001587	stop_gained	9752	0	0					g.chr5:140228096C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.16C>T	chr5.hg19:g.140228096C>T	ENSP00000436042:p.Arg6*	0					PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.R6*|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.R6*	NM_031857.1	NP_114063.1	1	2	3	1.962891	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1049	+			O15053|Q2M3S5	Nonsense_Mutation	SNP	ENST00000532602.1	0	1	hg19	c.16C>T	CCDS54920.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.294141	0.98192	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.73	-0.921	0.10472	3.73	-0.921	0.10472	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4352	0.16478	0.4129:0.2254:0.3617:0.0	.	.	.	.	X	6	.	ENSP00000367362:R6X	R	+	1	2	2	PCDHA9	140208280	140208280	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.372000	0.07504	-0.010000	0.14271	0.591000	0.81541	CGA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.488	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	0	2	2	2	2	0	0	0	0	203	203	203	201	1	3.280000	-20.000000	1	0.240000	NM_031857		0	87	85	0	670	663	0		1			0	0	203	0	0	1.000000	0	0	0	0	0	0	87	670
CCDC127	133957	broad.mit.edu	37	5	205888	205888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:205888G>A	ENST00000296824.3	-	3	439	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	103										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGGGCTTCTCGGTAACTAGCA	0.498																																						ENST00000296824.3	0.260000	0.060000	2.100000e-01	1.000000e-01	0.140000	0.159503	0.140000	0.150000																										0				12						c.(307-309)Cga>Tga		coiled-coil domain containing 127							101.0	101.0	101.0					5																	205888		2203	4300	6503	SO:0001587	stop_gained	133957	0	0					g.chr5:205888G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.307C>T	chr5.hg19:g.205888G>A	ENSP00000296824:p.Arg103*	0						p.R103*	NM_145265.2	NP_660308.1	1	2	3	1.951143	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)	3	439	-				Nonsense_Mutation	SNP	ENST00000296824.3	0	1	hg19	c.307C>T	CCDS3852.1	0	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629715	0.46944	.	.	ENSG00000164366	ENST00000296824	.	.	.	5.77	4.91	0.64330	5.77	4.91	0.64330	.	0.120792	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6082	14.1903	0.65635	0.0:0.0:0.8491:0.1509	.	.	.	.	X	103	.	ENSP00000296824:R103X	R	-	1	2	2	CCDC127	258888	258888	1.000000	0.71417	0.944000	0.38274	0.475000	0.33008	2.365000	0.44196	1.457000	0.47850	-0.218000	0.12543	CGA	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.498	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	0	0	1	2	16	3	2	1	1	1	1	131	131	131	129	1	3.280000	-2.613582	1	0.240000	NM_145265		0	9	9	0	572	561	0		0	0		1	0	131	0	0	0.102451	2.576326e-02	0	1	0	34	0	9	572
IRX2	153572	broad.mit.edu	37	5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:2749639C>T	ENST00000382611.6	-	2	760	c.512G>A	c.(511-513)cGc>cAc	p.R171H	IRX2_ENST00000302057.5_Missense_Mutation_p.R171H|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	171					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592																																						ENST00000382611.6	0.300000	0.070000	2.400000e-01	1.200000e-01	0.170000	0.182955	0.170000	0.160000																										0				26						c.(511-513)cGc>cAc		iroquois homeobox 2							136.0	128.0	131.0					5																	2749639		2203	4300	6503	SO:0001583	missense	153572	0	0					g.chr5:2749639C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.512G>A	chr5.hg19:g.2749639C>T	ENSP00000372056:p.Arg171His	0					C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	p.R171H	NM_001134222.1	NP_001127694.1	1	2	3	1.951143	Q9BZI1	IRX2_HUMAN		2	760	-			Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	0	1	hg19	c.512G>A	CCDS3868.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.448586	0.96205	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.98617	-5.03;-5.03;-5.03	4.85	4.85	0.62838	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98132	1.0431	10	0.87932	D	0	-23.159	17.9697	0.89110	0.0:1.0:0.0:0.0	.	171	Q9BZI1	IRX2_HUMAN	H	171;171;78	ENSP00000372056:R171H;ENSP00000307006:R171H;ENSP00000426151:R78H	ENSP00000307006:R171H	R	-	2	0	0	IRX2	2802639	2802639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.239000	0.73571	0.655000	0.94253	CGC	0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.592	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	0	0	1	2	2	2	2	0	0	0	0	123	123	123	119	1	3.280000	-2.146419	0	0.240000			0	9	9	0	497	487	0		1	0		0	0	123	0	0	0.993754	5.600986e-02	0	0	0	19	0	9	497
NNT	23530	broad.mit.edu	37	5	43624206	43624206	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:43624206C>A	ENST00000264663.5	+	6	981	c.760C>A	c.(760-762)Cga>Aga	p.R254R	NNT_ENST00000344920.4_Silent_p.R254R|NNT_ENST00000512996.2_Silent_p.R123R	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	254					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.R254R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGCAATTGTTCGAGGATTTGA	0.413																																						ENST00000264663.5	0.530000	0.290000	4.700000e-01	3.400000e-01	0.400000	0.413336	0.400000	0.400000																										1	Substitution - coding silent(1)	p.R254R(1)	lung(1)	51						c.(760-762)Cga>Aga		nicotinamide nucleotide transhydrogenase							318.0	291.0	300.0					5																	43624206		2203	4300	6503	SO:0001819	synonymous_variant	23530	0	0					g.chr5:43624206C>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.760C>A	chr5.hg19:g.43624206C>A		0					NNT_ENST00000512996.2_Silent_p.R123R|NNT_ENST00000344920.4_Silent_p.R254R	p.R254R	NM_012343.3	NP_036475.3	1	2	3	1.951143	Q13423	NNTM_HUMAN		6	981	+	Lung NSC(6;2.58e-06)		Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	1	0	hg19	c.760C>A	CCDS3949.1	0																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	0	2	2	2	2	0	0	0	0	221	221	221	215	1	3.280000	-4.136119	1	0.240000	NM_182977		0	44	46	0	968	954	0		1	0		0	0	221	0	0	1.000000	4.443647e-01	0	0	0	34	0	44	968
MCCC2	64087	broad.mit.edu	37	5	70931068	70931068	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:70931068C>A	ENST00000340941.6	+	10	1123	c.994C>A	c.(994-996)Cga>Aga	p.R332R	MCCC2_ENST00000509358.2_Silent_p.R332R|MCCC2_ENST00000323375.8_Silent_p.R294R|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	332	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTTGATGTCCGAGAGGTATG	0.393																																						ENST00000340941.6	0.280000	0.060000	2.200000e-01	1.000000e-01	0.150000	0.162506	0.150000	0.140000																										0				30	GRCh37	CM053319	MCCC2	M		c.(994-996)Cga>Aga		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						132.0	132.0	132.0					5																	70931068		2203	4300	6503	SO:0001819	synonymous_variant	64087	0	0					g.chr5:70931068C>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.994C>A	chr5.hg19:g.70931068C>A		1					MCCC2_ENST00000509358.2_Silent_p.R332R|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.R294R	p.R332R	NM_022132.4	NP_071415.1	0	2	2	1.746669	Q9HCC0	MCCB_HUMAN		10	1123	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	0	1	hg19	c.994C>A	CCDS34184.1	0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.393	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4	0	0	1	2	2	2	2	0	0	0	0	103	103	103	102	1	3.280000	-2.666817	1	0.240000			0	7	7	0	398	394	0		1	0		0	0	103	0	0	0.980118	2.297523e-01	0	0	0	46	0	7	398
GFM2	84340	broad.mit.edu	37	5	74026094	74026094	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:74026094G>T	ENST00000296805.3	-	17	2174	c.1717C>A	c.(1717-1719)Cgt>Agt	p.R573S	GFM2_ENST00000345239.2_Missense_Mutation_p.R526S|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.R573S	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CCTGTGGCACGAACTGAGTTT	0.398																																						ENST00000296805.3	0.490000	0.140000	3.900000e-01	2.100000e-01	0.290000	0.307374	0.290000	0.280000																										0				14						c.(1717-1719)Cgt>Agt		G elongation factor, mitochondrial 2							98.0	93.0	94.0					5																	74026094		2203	4300	6503	SO:0001583	missense	84340	0	0					g.chr5:74026094G>T	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1717C>A	chr5.hg19:g.74026094G>T	ENSP00000296805:p.Arg573Ser	1					GFM2_ENST00000345239.2_Missense_Mutation_p.R526S|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.R573S	p.R573S	NM_032380.3	NP_115756.2	0	2	2	1.746669				17	2174	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		Missense_Mutation	SNP	ENST00000296805.3	1	0	hg19	c.1717C>A	CCDS4023.1	0	.	.	.	.	.	.	.	.	.	.	G	6.416	0.444897	0.12164	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.28895	1.59;1.59;1.59	5.64	2.93	0.34026	5.64	2.93	0.34026	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.474700	0.25186	N	0.032482	T	0.18964	0.0455	L	0.28556	0.865	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.003	B;B;B	0.15484	0.008;0.006;0.013	T	0.17623	-1.0363	10	0.35671	T	0.21	-0.3872	5.1057	0.14783	0.2806:0.0:0.5859:0.1335	.	573;526;573	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	S	573;526;573	ENSP00000296805:R573S;ENSP00000296804:R526S;ENSP00000427004:R573S	ENSP00000296805:R573S	R	-	1	0	0	GFM2	74061850	74061850	0.338000	0.24775	0.818000	0.32626	0.977000	0.68977	1.075000	0.30716	0.341000	0.23771	-0.263000	0.10527	CGT	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.398	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	1	0	1	2	2	2	2	0	0	0	0	56	56	56	56	1	3.280000	-3.057998	1	0.240000	NM_032380		0	10	9	0	283	277	0		1	0		0	0	56	0	0	0.996626	1.998702e-01	0	0	0	22	0	10	283
COL4A3BP	10087	broad.mit.edu	37	5	74754979	74754979	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:74754979C>A	ENST00000405807.4	-	3	680	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.D215Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACACTAATATCAAATCGACAT	0.378																																						ENST00000405807.4	0.340000	0.080000	2.700000e-01	1.300000e-01	0.190000	0.204788	0.190000	0.180000																										0				16						c.(259-261)Gat>Tat		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							168.0	142.0	150.0					5																	74754979		2203	4300	6503	SO:0001583	missense	10087	0	0					g.chr5:74754979C>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.259G>T	chr5.hg19:g.74754979C>A	ENSP00000383996:p.Asp87Tyr	1					COL4A3BP_ENST00000380494.5_Missense_Mutation_p.D215Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y	p.D87Y	NM_005713.2	NP_005704.1	0	2	2	1.746669	Q9Y5P4	C43BP_HUMAN		3	680	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	0	1	hg19	c.259G>T	CCDS4028.1	0	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742024	0.89573	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.12465	2.68;2.68;2.68	5.35	5.35	0.76521	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.62088	1.915	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.09422	-1.0675	10	0.87932	D	0	-1.6075	18.6597	0.91468	0.0:1.0:0.0:0.0	.	87;215;87	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Y	87;215;87	ENSP00000383996:D87Y;ENSP00000369862:D215Y;ENSP00000261415:D87Y	ENSP00000261415:D87Y	D	-	1	0	0	COL4A3BP	74790735	74790735	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.682000	0.84083	2.493000	0.84123	0.563000	0.77884	GAT	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.378	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	0	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	3.280000	-8.151397	1	0.240000	NM_005713		0	8	8	0	353	347	0		1	0		0	0	94	0	0	0.988820	9.880206e-02	0	0	0	21	0	8	353
ADAMTS2	9509	broad.mit.edu	37	5	178552049	178552049	+	Silent	SNP	G	G	A	rs370397254		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178552049G>A	ENST00000251582.7	-	19	2984	c.2883C>T	c.(2881-2883)gaC>gaT	p.D961D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	961	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCCGGGCGTCATTGCAGT	0.701																																						ENST00000251582.7	1.000000	0.710000	1	8.000000e-01	0.900000	0.903044	0.900000	1.000000																										0				72						c.(2881-2883)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2		G		0,4406		0,0,2203	74.0	78.0	76.0		2883	2.0	0.4	5		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS2	NM_014244.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		961/1212	178552049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9509	2	121344	37				g.chr5:178552049G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2883C>T	chr5.hg19:g.178552049G>A		0						p.D961D	NM_014244.4	NP_055059.2	1	2	3	1.962891	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	19	2984	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)		Silent	SNP	ENST00000251582.7	1	1	hg19	c.2883C>T	CCDS4444.1	1																																																																																								0.321429		TCGA-YB-A89D-01A-12D-A36O-08	0.701	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	1	0	1	2	2	2	2	0	0	0	0	167	167	167	162	1	3.280000	-19.264120	1	0.240000	NM_014244		0	67	65	0	621	597	0		1	0		0	0	167	0	0	1.000000	9.972718e-01	0	0	0	83	0	67	621
RTN4IP1	84816	broad.mit.edu	37	6	107070789	107070789	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:107070789G>T	ENST00000369063.3	-	2	795	c.330C>A	c.(328-330)atC>atA	p.I110I	RTN4IP1_ENST00000539449.1_Silent_p.I110I	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	110						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CTTCTCCTTTGATTTTCACGT	0.413																																						ENST00000369063.3	0.480000	0.190000	4.000000e-01	2.400000e-01	0.310000	0.328793	0.310000	0.310000																										0				13						c.(328-330)atC>atA		reticulon 4 interacting protein 1							99.0	95.0	96.0					6																	107070789		2203	4300	6503	SO:0001819	synonymous_variant	84816	0	0					g.chr6:107070789G>T	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.330C>A	chr6.hg19:g.107070789G>T		1					RTN4IP1_ENST00000539449.1_Silent_p.I110I	p.I110I	NM_032730.4	NP_116119.2	0	2	2	1.747676	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	2	795	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	ENST00000369063.3	1	0	hg19	c.330C>A	CCDS5056.1	0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.413	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1	1	0	1	2	2	2	2	0	0	0	0	118	118	118	117	1	3.280000	-4.077091	1	0.240000			0	17	17	0	434	427	0		1	0		0	0	118	0	0	0.999962	3.014482e-02	0	0	0	7	0	17	434
PTPRK	5796	broad.mit.edu	37	6	128404925	128404925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:128404925C>A	ENST00000368215.3	-	9	1509	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	PTPRK_ENST00000524481.1_5'UTR|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E504*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	504	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTTATTTTCAAAGGATGTT	0.348																																						ENST00000368215.3	0.260000	0.050000	2.000000e-01	9.000000e-02	0.140000	0.153170	0.140000	0.140000																									PTPRK/RSPO3(10)	0				72						c.(1510-1512)Gaa>Taa		protein tyrosine phosphatase, receptor type, K							104.0	103.0	103.0					6																	128404925		2203	4299	6502	SO:0001587	stop_gained	5796	0	0					g.chr6:128404925C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1510G>T	chr6.hg19:g.128404925C>A	ENSP00000357198:p.Glu504*	1					PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*	p.E504*			0	2	2	1.747676	Q15262	PTPRK_HUMAN		9	1509	-			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	0	1	hg19	c.1510G>T		0	.	.	.	.	.	.	.	.	.	.	C	39	7.548767	0.98352	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	6.02	5.15	0.70609	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.7022	0.85357	0.1306:0.8694:0.0:0.0	.	.	.	.	X	504;504;504;504;504;504;504;361	.	ENSP00000357190:E504X	E	-	1	0	0	PTPRK	128446618	128446618	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.527000	0.49086	-0.188000	0.12872	GAA	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1	0	0	1	2	2	2	2	0	0	0	0	74	74	74	70	1	3.280000	-2.762026	1	0.240000			0	7	7	0	423	418	0		1	0		0	0	74	0	0	0.979970	1.351923e-01	0	0	0	34	0	7	423
FUCA2	2519	broad.mit.edu	37	6	143823168	143823168	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:143823168C>A	ENST00000002165.6	-	5	1110	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	352					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTGCCTCAGTCGCTCCTCAAA	0.443																																						ENST00000002165.6	0.290000	0.070000	2.300000e-01	1.100000e-01	0.160000	0.179120	0.160000	0.160000																										0				9						c.(1054-1056)cGa>cTa		fucosidase, alpha-L- 2, plasma							89.0	86.0	87.0					6																	143823168		2203	4300	6503	SO:0001583	missense	2519	0	0					g.chr6:143823168C>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1055G>T	chr6.hg19:g.143823168C>A	ENSP00000002165:p.Arg352Leu	1					RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_3'UTR	p.R352L	NM_032020.4	NP_114409.2	0	2	2	1.747676	Q9BTY2	FUCO2_HUMAN		5	1110	-			E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	0	1	hg19	c.1055G>T	CCDS5200.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.462906	0.96257	.	.	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.58358	0.34;0.34	5.98	5.98	0.97165	5.98	5.98	0.97165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67898	-0.5551	10	0.30854	T	0.27	-21.6749	20.4581	0.99154	0.0:1.0:0.0:0.0	.	31;352	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	L	352;31	ENSP00000002165:R352L;ENSP00000398119:R31L	ENSP00000002165:R352L	R	-	2	0	0	FUCA2	143864861	143864861	1.000000	0.71417	0.910000	0.35882	0.949000	0.60115	7.445000	0.80570	2.835000	0.97688	0.650000	0.86243	CGA	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.443	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	0	0	1	2	2	2	2	0	0	0	0	102	102	102	100	1	3.280000	-3.043248	1	0.240000	NM_032020		0	9	9	0	451	448	0		1	0		0	0	102	0	0	0.994141	9.273512e-01	0	0	0	233	0	9	451
PLEKHG1	57480	broad.mit.edu	37	6	151153189	151153189	+	Missense_Mutation	SNP	G	G	A	rs113595784	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:151153189G>A	ENST00000358517.2	+	15	3153	c.2942G>A	c.(2941-2943)cGg>cAg	p.R981Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507																																						ENST00000358517.2	0.210000	0.060000	1.700000e-01	9.000000e-02	0.120000	0.136391	0.120000	0.120000																										0				53						c.(2941-2943)cGg>cAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							110.0	123.0	118.0					6																	151153189		2203	4300	6503	SO:0001583	missense	57480	5	121412	42				g.chr6:151153189G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2942G>A	chr6.hg19:g.151153189G>A	ENSP00000351318:p.Arg981Gln	1					PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981Q	p.R981Q			0	2	2	1.747676	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	15	3153	+			Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	0	1	hg19	c.2942G>A	CCDS34552.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.451520	0.96205	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30448	1.53;1.53	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68952	2.095	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.51108	-0.8747	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	788;981;981	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Q	981	ENSP00000356297:R981Q;ENSP00000351318:R981Q	ENSP00000351318:R981Q	R	+	2	0	0	PLEKHG1	151194882	151194882	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGG	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.507	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	0	0	1	2	2	2	2	0	0	0	0	214	214	214	211	1	3.280000	-1.968841	0	0.240000			0	12	12	0	777	765	0		1	0		0	0	214	0	0	0.999030	2.253937e-02	0	1	0	13	0	12	777
LY86	9450	broad.mit.edu	37	6	6625213	6625213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:6625213C>A	ENST00000379953.2	+	3	543	c.191C>A	c.(190-192)tCa>tAa	p.S64*	LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000607278.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*|LY86-AS1_ENST00000606044.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	64					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CAATTAAAATCAAATATCAAC	0.313																																						ENST00000379953.2	0.600000	0.160000	4.700000e-01	2.300000e-01	0.340000	0.360160	0.340000	0.320000																										0				8						c.(190-192)tCa>tAa		lymphocyte antigen 86							66.0	62.0	64.0					6																	6625213		2189	4293	6482	SO:0001587	stop_gained	9450	0	0					g.chr6:6625213C>A	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.191C>A	chr6.hg19:g.6625213C>A	ENSP00000369286:p.Ser64*	1					LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000606044.1_RNA|LY86-AS1_ENST00000607278.1_RNA|LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*|LY86-AS1_ENST00000435641.1_RNA	p.S64*			0	2	2	1.735377	O95711	LY86_HUMAN		3	543	+	Ovarian(93;0.0377)		Q9UQC4	Nonsense_Mutation	SNP	ENST00000379953.2	0	1	hg19	c.191C>A	CCDS4498.1	0	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432933	0.62844	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	.	.	.	5.26	3.22	0.36961	5.26	3.22	0.36961	.	1.944890	0.02311	N	0.072065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	4.3632	12.8308	0.57744	0.3071:0.6929:0.0:0.0	.	.	.	.	X	64	.	ENSP00000230568:S64X	S	+	2	0	0	LY86	6570212	6570212	0.001000	0.12720	0.017000	0.16124	0.635000	0.38103	0.857000	0.27831	1.177000	0.42855	0.655000	0.94253	TCA	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.313	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2	0	0	1	2	2	2	2	0	0	0	0	44	44	44	44	1	3.280000	-10.383520	1	0.240000			0	8	8	0	195	192	0		1	0		0	0	44	0	0	0.989153	7.259222e-01	0	0	0	63	0	8	195
ZNF311	282890	broad.mit.edu	37	6	28963821	28963821	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:28963821G>T	ENST00000377179.3	-	7	1470	c.958C>A	c.(958-960)Cga>Aga	p.R320R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTTTTATGTCGGCAAAGAGCT	0.493																																						ENST00000377179.3	0.370000	0.110000	2.900000e-01	1.600000e-01	0.220000	0.231897	0.220000	0.220000																										0				28						c.(958-960)Cga>Aga		zinc finger protein 311							74.0	66.0	69.0					6																	28963821		1511	2709	4220	SO:0001819	synonymous_variant	282890	0	0					g.chr6:28963821G>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.958C>A	chr6.hg19:g.28963821G>T		1					ZNF311_ENST00000483450.1_5'UTR	p.R320R	NM_001010877.2	NP_001010877.2	0	2	2	1.774194	Q5JNZ3	ZN311_HUMAN		7	1470	-			A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	0	1	hg19	c.958C>A	CCDS34357.1	0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.493	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	0	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	3.280000	-2.937220	1	0.240000	XM_212581		0	11	11	0	415	408	0		1	0		0	0	94	0	0	0.998223	0	0	0	0	1	0	11	415
DLK2	65989	broad.mit.edu	37	6	43418947	43418947	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43418947C>T	ENST00000357338.3	-	6	1182	c.482G>A	c.(481-483)cGc>cAc	p.R161H	DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000372485.1_Missense_Mutation_p.R155H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	161	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAAGCAGCGGCACGTGAA	0.592																																						ENST00000357338.3	0.570000	0.120000	4.300000e-01	1.900000e-01	0.300000	0.321837	0.300000	0.280000																										0				7						c.(481-483)cGc>cAc		delta-like 2 homolog (Drosophila)							79.0	54.0	62.0					6																	43418947		2203	4300	6503	SO:0001583	missense	65989	3	121412	32				g.chr6:43418947C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.482G>A	chr6.hg19:g.43418947C>T	ENSP00000349893:p.Arg161His	1					DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000372485.1_Missense_Mutation_p.R155H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H	p.R161H	NM_206539.1	NP_996262.1	0	2	2	1.747676	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	6	1182	-	all_lung(25;0.00536)		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	1	1	hg19	c.482G>A	CCDS4897.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542004|3.542004	0.65198|0.65198	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87809	.|-2.3;-2.3;-2.3;-2.3	4.51|4.51	4.51|4.51	0.55191|0.55191	4.51|4.51	4.51|4.51	0.55191|0.55191	.|Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67297|0.67297	0.2878|0.2878	N|N	0.21373|0.21373	0.66|0.66	0.46167|0.46167	D|D	0.998909|0.998909	.|P	.|0.51240	.|0.943	.|B	.|0.40410	.|0.328	T|T	0.68655|0.68655	-0.5351|-0.5351	5|10	.|0.19147	.|T	.|0.46	.|.	12.2573|12.2573	0.54631|0.54631	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	.|161	.|Q6UY11	.|DLK2_HUMAN	T|H	67|155;161;161;155	.|ENSP00000361563:R155H;ENSP00000361566:R161H;ENSP00000349893:R161H;ENSP00000398906:R155H	.|ENSP00000349893:R161H	A|R	-|-	1|2	0|0	0|0	DLK2|DLK2	43526925|43526925	43526925|43526925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	2.486000|2.486000	0.45259|0.45259	2.507000|2.507000	0.84556|0.84556	0.455000|0.455000	0.32223|0.32223	GCT|CGC	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	0	0	1	2	2	2	2	0	0	0	0	36	36	36	36	1	3.280000	-8.137891	1	0.240000	NM_023932		0	6	6	0	170	167	0		1	0		0	0	36	0	0	0.963897	1.757580e-03	0	0	0	2	0	6	170
MEP1A	4224	broad.mit.edu	37	6	46797278	46797278	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:46797278C>A	ENST00000230588.4	+	10	1123	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	372	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488																																						ENST00000230588.4	0.290000	0.090000	2.400000e-01	1.300000e-01	0.180000	0.189611	0.180000	0.180000																										0				42						c.(1114-1116)Cgc>Agc		meprin A, alpha (PABA peptide hydrolase)							137.0	145.0	143.0					6																	46797278		2203	4300	6503	SO:0001583	missense	4224	0	0					g.chr6:46797278C>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1114C>A	chr6.hg19:g.46797278C>A	ENSP00000230588:p.Arg372Ser	1						p.R372S	NM_005588.2	NP_005579.2	0	2	2	1.747676	Q16819	MEP1A_HUMAN	Lung(136;0.192)	10	1123	+			A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	0	1	hg19	c.1114C>A	CCDS4918.1	0	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330826	0.41297	.	.	ENSG00000112818	ENST00000230588	T	0.02067	4.47	5.77	4.89	0.63831	5.77	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.342421	0.34435	N	0.003979	T	0.03783	0.0107	M	0.74881	2.28	0.43522	D	0.995798	D;D	0.58970	0.984;0.984	P;P	0.61070	0.858;0.883	T	0.53753	-0.8394	10	0.19147	T	0.46	-12.7042	10.0322	0.42107	0.1364:0.7941:0.0:0.0695	.	400;372	B7ZL91;Q16819	.;MEP1A_HUMAN	S	372	ENSP00000230588:R372S	ENSP00000230588:R372S	R	+	1	0	0	MEP1A	46905237	46905237	0.011000	0.17503	0.879000	0.34478	0.799000	0.45148	0.779000	0.26746	1.410000	0.46936	0.650000	0.86243	CGC	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.488	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	0	0	1	2	2	2	2	0	0	0	0	175	175	175	174	1	3.280000	-2.218927	0	0.240000	NM_005588		0	14	15	0	640	635	0		1	0		0	0	175	0	0	0.999742	1.631920e-03	0	0	0	3	0	14	640
COX7A2	1347	broad.mit.edu	37	6	75950955	75950955	+	Silent	SNP	C	C	A	rs139079443	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:75950955C>A	ENST00000230459.4	-	2	238	c.45G>T	c.(43-45)acG>acT	p.T15T	COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370081.2_Silent_p.T47T	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358																																						ENST00000230459.4	0.180000	0.050000	1.500000e-01	7.000000e-02	0.100000	0.115699	0.100000	0.100000																										1	Substitution - coding silent(1)	p.T15T(1)	lung(1)	3						c.(43-45)acG>acT		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							89.0	101.0	97.0					6																	75950955		2203	4300	6503	SO:0001819	synonymous_variant	1347	0	0					g.chr6:75950955C>A	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.45G>T	chr6.hg19:g.75950955C>A		1					COX7A2_ENST00000370081.2_Silent_p.T47T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000472311.2_Silent_p.T15T	p.T15T	NM_001865.3	NP_001856.2	0	2	2	1.747676	P14406	CX7A2_HUMAN		2	238	-			B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	0	1	hg19	c.45G>T		0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	177	177	177	176	1	3.280000	-2.341395	0	0.240000	NM_001865		0	11	11	0	848	837	0		1	0		0	0	177	0	0	0.998200	9.845201e-01	0	0	0	543	0	11	848
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A	rs184895201		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000447266.2	0.240000	0.050000	1.900000e-01	8.000000e-02	0.130000	0.140909	0.130000	0.120000																										0				27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125.0	118.0	120.0					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054	1	120806	35				g.chr6:76425185C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3214C>A	chr6.hg19:g.76425185C>A		1					SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000541192.1_3'UTR	p.R1072R	NM_015571.2	NP_056386.2	0	2	2	1.747676	Q9GZR1	SENP6_HUMAN		24	3692	+		all_hematologic(105;0.189)	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	0	1	hg19	c.3214C>A	CCDS47454.1	0																																																																																								0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	0	0	1	2	2	2	2	0	0	0	0	144	144	144	142	1	3.280000	-2.237860	0	0.240000	NM_015571		0	8	8	0	519	511	0		1	0		0	0	144	0	0	0.988786	5.412422e-01	0	0	0	111	0	8	519
TCP1	6950	broad.mit.edu	37	6	160202137	160202137	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:160202137G>A	ENST00000321394.7	-	8	1083	c.803C>T	c.(802-804)tCa>tTa	p.S268L	TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L|SNORA20_ENST00000384662.1_RNA	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	268					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GGTGATATCTGATTCTCTGCA	0.328																																						ENST00000321394.7	1.000000	0.740000	1	8.400000e-01	0.940000	0.931043	0.940000	1.000000																										0				10						c.(802-804)tCa>tTa		t-complex 1							146.0	142.0	144.0					6																	160202137		2203	4300	6503	SO:0001583	missense	6950	0	0					g.chr6:160202137G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.803C>T	chr6.hg19:g.160202137G>A	ENSP00000317334:p.Ser268Leu	1					SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000392168.2_Missense_Mutation_p.S113L	p.S268L	NM_030752.2	NP_110379.2	0	2	2	1.747676	P17987	TCPA_HUMAN		8	1083	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	1	1	hg19	c.803C>T	CCDS5269.1	1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264755	0.40095	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.054590	0.85682	D	0.000000	T	0.43722	0.1260	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.14578	0.002;0.011	T	0.50381	-0.8835	10	0.10902	T	0.67	-8.3473	19.6959	0.96026	0.0:0.0:1.0:0.0	.	268;268	E7ERF2;P17987	.;TCPA_HUMAN	L	268;44;268;113;66	ENSP00000317334:S268L;ENSP00000439447:S44L;ENSP00000390159:S268L;ENSP00000376008:S113L;ENSP00000441345:S66L	ENSP00000317334:S268L	S	-	2	0	0	TCP1	160122127	160122127	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	7.367000	0.79558	2.659000	0.90383	0.650000	0.86243	TCA	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.328	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	1	0	0	2	2	2	2	0	0	0	0	121	121	121	121	1	3.280000	-19.999780	1	0.240000	NM_030752		0	67	68	0	520	516	1		1	1		0	0	121	0	0	1.000000	1	0	39	0	313	0	67	520
FLNC	2318	broad.mit.edu	37	7	128491395	128491395	+	Silent	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:128491395C>G	ENST00000325888.8	+	34	5910	c.5649C>G	c.(5647-5649)gtC>gtG	p.V1883V	FLNC_ENST00000346177.6_Silent_p.V1850V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1883					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACTATTGTCACCAAAGATG	0.587																																						ENST00000325888.8	0.380000	0.060000	2.900000e-01	1.100000e-01	0.180000	0.206265	0.180000	0.160000																										0				128						c.(5647-5649)gtC>gtG		filamin C, gamma							55.0	59.0	57.0					7																	128491395		2141	4263	6404	SO:0001819	synonymous_variant	2318	0	0					g.chr7:128491395C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5649C>G	chr7.hg19:g.128491395C>G		1					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V1850V	p.V1883V	NM_001458.4	NP_001449.3	2	2	4	2.158329	Q14315	FLNC_HUMAN		34	5910	+			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	0	1	hg19	c.5649C>G	CCDS43644.1	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0	0	0	2	2	2	2	0	0	0	0	56	56	56	56	1	3.280000	-5.797591	1	0.240000			0	5	5	0	292	289	0		1	0		0	0	56	0	0	0.936397	4.305680e-02	0	0	0	16	0	5	292
KLHL7	55975	broad.mit.edu	37	7	23183515	23183515	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:23183515C>A	ENST00000339077.5	+	6	907	c.664C>A	c.(664-666)Cgc>Agc	p.R222S	KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000322231.7_Missense_Mutation_p.R200S|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	222	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAACCTAATCGCCAGCCATT	0.378																																						ENST00000339077.5	0.210000	0.050000	1.700000e-01	8.000000e-02	0.120000	0.128318	0.120000	0.120000																										0				25						c.(664-666)Cgc>Agc		kelch-like family member 7							224.0	209.0	214.0					7																	23183515		2203	4300	6503	SO:0001583	missense	55975	0	0					g.chr7:23183515C>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.664C>A	chr7.hg19:g.23183515C>A	ENSP00000343273:p.Arg222Ser	1					KLHL7_ENST00000322231.7_Missense_Mutation_p.R200S|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000542558.1_5'UTR	p.R222S	NM_001031710.2	NP_001026880.2	2	2	4	2.139765	Q8IXQ5	KLHL7_HUMAN		6	907	+			A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	0	1	hg19	c.664C>A	CCDS34609.1	0	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603408	0.87157	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.43	5.43	0.79202	5.43	5.43	0.79202	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.91354	3.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.957	D	0.90023	0.4129	10	0.87932	D	0	.	19.5857	0.95489	0.0:1.0:0.0:0.0	.	222;200	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	S	188;200;222;146;174;200	ENSP00000322958:R200S;ENSP00000343273:R222S;ENSP00000441136:R146S;ENSP00000386263:R174S;ENSP00000442366:R200S	ENSP00000322958:R200S	R	+	1	0	0	KLHL7	23150040	23150040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.696000	0.92011	0.591000	0.81541	CGC	0.385908		TCGA-YB-A89D-01A-12D-A36O-08	0.378	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	0	0	1	2	2	2	2	0	0	0	0	251	251	251	250	1	3.280000	-2.287399	0	0.240000	NM_018846		0	13	12	0	1108	1088	0		1	0		0	0	251	0	0	0.999460	4.611809e-02	0	0	0	27	0	13	1108
UBE2D4	51619	broad.mit.edu	37	7	43990227	43990227	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:43990227G>T	ENST00000222402.3	+	6	423	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	UBE2D4_ENST00000394798.4_Missense_Mutation_p.D74Y|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	112					protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GCTGCTCTGCGACCCCAACCC	0.562																																					Esophageal Squamous(27;401 815 16344 30604)	ENST00000222402.3	0.920000	0.310000	7.200000e-01	4.200000e-01	0.550000	0.576502	0.550000	0.530000																										0				5						c.(334-336)Gac>Tac		ubiquitin-conjugating enzyme E2D 4 (putative)							126.0	112.0	117.0					7																	43990227		2203	4300	6503	SO:0001583	missense	51619	0	0					g.chr7:43990227G>T	BC004104	CCDS5474.1	7p13	2005-08-11			ENSG00000078967	ENSG00000078967		"""Ubiquitin-conjugating enzymes E2"""	21647	protein-coding gene	gene with protein product						12690205	Standard	NM_015983		Approved	HBUCE1	uc003tja.2	Q9Y2X8	OTTHUMG00000128971	ENST00000222402.3:c.334G>T	chr7.hg19:g.43990227G>T	ENSP00000222402:p.Asp112Tyr	1					RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Missense_Mutation_p.D74Y	p.D112Y	NM_015983.3	NP_057067.1	2	2	4	2.130453	Q9Y2X8	UB2D4_HUMAN		6	423	+			A4D1V0	Missense_Mutation	SNP	ENST00000222402.3	1	0	hg19	c.334G>T	CCDS5474.1	0	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025689	0.75390	.	.	ENSG00000078967	ENST00000222402;ENST00000394798	T;T	0.73789	-0.78;-0.78	4.49	3.61	0.41365	4.49	3.61	0.41365	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.055533	0.64402	D	0.000002	D	0.86834	0.6028	M	0.90369	3.11	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.77557	0.976;0.99	D	0.87620	0.2509	10	0.87932	D	0	.	10.2569	0.43403	0.0996:0.0:0.9004:0.0	.	74;112	Q9UQL0;Q9Y2X8	.;UB2D4_HUMAN	Y	112;74	ENSP00000222402:D112Y;ENSP00000378277:D74Y	ENSP00000222402:D112Y	D	+	1	0	0	UBE2D4	43956752	43956752	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.286000	0.89916	0.885000	0.36088	0.655000	0.94253	GAC	0.384715		TCGA-YB-A89D-01A-12D-A36O-08	0.562	UBE2D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250958.2	1	0	1	2	2	2	2	0	0	0	0	58	58	58	57	1	3.280000	-3.220504	1	0.240000	NM_015983		0	14	14	0	252	249	0		1	0		0	0	58	0	0	0.999758	7.016222e-01	0	0	0	45	0	14	252
MAGI2	9863	broad.mit.edu	37	7	77755148	77755148	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:77755148C>A	ENST00000354212.4	-	20	3683	c.3430G>T	c.(3430-3432)Gat>Tat	p.D1144Y	MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y|MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1144					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGAAATAATCAAAATCCTTT	0.398																																						ENST00000354212.4	0.470000	0.160000	3.900000e-01	2.200000e-01	0.290000	0.308075	0.290000	0.280000																										0				84						c.(3430-3432)Gat>Tat		membrane associated guanylate kinase, WW and PDZ domain containing 2							74.0	71.0	72.0					7																	77755148		2203	4300	6503	SO:0001583	missense	9863	0	0					g.chr7:77755148C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3430G>T	chr7.hg19:g.77755148C>A	ENSP00000346151:p.Asp1144Tyr	1					MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y|MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y	p.D1144Y	NM_012301.3	NP_036433.2	2	2	4	2.150457	Q86UL8	MAGI2_HUMAN		20	3683	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	0	1	hg19	c.3430G>T	CCDS5594.1	0	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826992	0.90955	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.17691	2.26;2.26;2.26	6.03	6.03	0.97812	6.03	6.03	0.97812	PDZ/DHR/GLGF (1);	0.000000	0.37530	U	0.002049	T	0.33498	0.0865	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.03175	-1.1064	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1144;1130;1144	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Y	1130;1144;1144;1144	ENSP00000405766:D1130Y;ENSP00000346151:D1144Y;ENSP00000428389:D1144Y	ENSP00000346151:D1144Y	D	-	1	0	0	MAGI2	77593084	77593084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.398	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	0	0	1	2	2	2	2	0	0	0	0	70	70	70	69	1	3.280000	-3.286784	1	0.240000	NM_012301		0	13	14	0	453	447	0		1	0		0	0	70	0	0	0.999512	1.304713e-02	0	0	0	6	0	13	453
SLC25A40	55972	broad.mit.edu	37	7	87465581	87465581	+	Silent	SNP	G	G	T	rs542153689		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:87465581G>T	ENST00000341119.5	-	12	1346	c.1000C>A	c.(1000-1002)Cga>Aga	p.R334R		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	334					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TGCTGCCTTCGAACATTTTGT	0.373																																						ENST00000341119.5	0.670000	0.240000	5.500000e-01	3.200000e-01	0.420000	0.442112	0.420000	0.410000																										0				17						c.(1000-1002)Cga>Aga		solute carrier family 25, member 40							54.0	54.0	54.0					7																	87465581		2203	4299	6502	SO:0001819	synonymous_variant	55972	0	0					g.chr7:87465581G>T	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.1000C>A	chr7.hg19:g.87465581G>T		1						p.R334R	NM_018843.3	NP_061331.2	2	2	4	2.150457	Q8TBP6	S2540_HUMAN		12	1346	-	Esophageal squamous(14;0.00202)		A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	1	0	hg19	c.1000C>A	CCDS5610.1	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.373	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	1	0	1	2	2	2	2	0	0	0	0	45	45	45	44	1	3.280000	-2.956587	1	0.240000	NM_018843		0	14	13	0	333	328	0		1	0		0	0	45	0	0	0.999738	1.517254e-01	0	0	0	16	0	14	333
SLC25A13	10165	broad.mit.edu	37	7	95813702	95813702	+	Missense_Mutation	SNP	C	C	T	rs398122839		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95813702C>T	ENST00000265631.5	-	11	1200	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q|SLC25A13_ENST00000416240.2_Missense_Mutation_p.R356Q			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTTCTGCATTCGAGTTTTTAC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		13282	0.0		0.0	False		,,,				2504	0.001					ENST00000265631.5	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				42						c.(1063-1065)cGa>cAa		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						81.0	75.0	77.0					7																	95813702		2203	4300	6503	SO:0001583	missense	10165	1	121410	36				g.chr7:95813702C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1064G>A	chr7.hg19:g.95813702C>T	ENSP00000265631:p.Arg355Gln	1					SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q|SLC25A13_ENST00000416240.2_Missense_Mutation_p.R356Q	p.R355Q			2	2	4	2.150457	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)	11	1200	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	1	1	hg19	c.1064G>A	CCDS5645.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952987	0.92660	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.83591	-1.74;-1.74;-1.74	4.56	3.68	0.42216	4.56	3.68	0.42216	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90728	0.7090	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.91822	0.5468	10	0.87932	D	0	-7.7694	12.8922	0.58078	0.0:0.9209:0.0:0.0791	.	247;356;355	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Q	355;356;247	ENSP00000265631:R355Q;ENSP00000400101:R356Q;ENSP00000440484:R247Q	ENSP00000265631:R355Q	R	-	2	0	0	SLC25A13	95651638	95651638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.279000	0.44446	0.655000	0.94253	CGA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.373	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	1	0	1	2	2	2	2	0	0	0	0	45	45	45	44	1	3.280000	-3.562770	1	0.240000	NM_014251		0	66	65	0	262	259	1		1	1		0	0	45	0	0	1.000000	9.969872e-01	0	13	0	25	0	66	262
SLC25A13	10165	broad.mit.edu	37	7	95818680	95818680	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95818680A>C	ENST00000265631.5	-	9	995	c.859T>G	c.(859-861)Tta>Gta	p.L287V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V|SLC25A13_ENST00000416240.2_Missense_Mutation_p.L287V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	287					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGTCTGCTAAGGTCATACGT	0.393																																						ENST00000265631.5	0.660000	0.230000	5.400000e-01	3.100000e-01	0.410000	0.434968	0.410000	0.400000																										0				42						c.(859-861)Tta>Gta		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						94.0	92.0	92.0					7																	95818680		2203	4300	6503	SO:0001583	missense	10165	0	0					g.chr7:95818680A>C	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.859T>G	chr7.hg19:g.95818680A>C	ENSP00000265631:p.Leu287Val	1					SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V|SLC25A13_ENST00000416240.2_Missense_Mutation_p.L287V	p.L287V			2	2	4	2.150457	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)	9	995	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	1	1	hg19	c.859T>G	CCDS5645.1	0	.	.	.	.	.	.	.	.	.	.	A	8.292	0.818007	0.16607	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80653	-1.4;-1.39;-1.37	4.69	3.55	0.40652	4.69	3.55	0.40652	EF-hand-like domain (1);	.	.	.	.	T	0.79678	0.4487	M	0.83223	2.63	0.42021	D	0.990984	B;B;B	0.25206	0.12;0.073;0.073	B;B;B	0.28916	0.096;0.044;0.044	T	0.76326	-0.3000	9	0.42905	T	0.14	-8.2043	6.7603	0.23536	0.7888:0.0:0.0753:0.1359	.	179;287;287	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	287;287;179	ENSP00000265631:L287V;ENSP00000400101:L287V;ENSP00000440484:L179V	ENSP00000265631:L287V	L	-	1	2	2	SLC25A13	95656616	95656616	0.324000	0.24652	1.000000	0.80357	0.164000	0.22412	1.072000	0.30678	1.129000	0.42072	0.533000	0.62120	TTA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	0	0	1	2	2	2	2	0	0	0	0	48	48	48	48	1	3.280000	-14.012840	1	0.240000	NM_014251		0	13	13	0	316	313	0		1	1		0	0	48	0	0	0.999532	4.176262e-01	0	2	0	32	0	13	316
ASB10	136371	broad.mit.edu	37	7	150878170	150878170	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150878170G>T	ENST00000420175.2	-	3	984	c.960C>A	c.(958-960)gcC>gcA	p.A320A	ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000377867.3_Silent_p.A305A|ASB10_ENST00000422024.1_Silent_p.A365A|ASB10_ENST00000275838.1_Silent_p.A320A			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	320			A -> T (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGTGTTGGCGCTGACAC	0.682																																						ENST00000420175.2	0.450000	0.090000	3.400000e-01	1.500000e-01	0.230000	0.255063	0.230000	0.230000																										0				12						c.(958-960)gcC>gcA		ankyrin repeat and SOCS box containing 10							48.0	41.0	43.0					7																	150878170		2203	4297	6500	SO:0001819	synonymous_variant	136371	0	0					g.chr7:150878170G>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.960C>A	chr7.hg19:g.150878170G>T		1					ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000422024.1_Silent_p.A365A|ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000377867.3_Silent_p.A305A	p.A320A			2	2	4	2.166993	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	3	984	-			A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	0	1	hg19	c.960C>A	CCDS47750.2	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	0	0	0	2	2	2	2	0	0	0	0	55	55	55	55	1	3.280000	-6.979241	1	0.240000	NM_080871		0	6	4	0	274	274	0		1			0	0	55	0	0	0.964256	0	0	0	0	0	0	6	274
CSMD3	114788	broad.mit.edu	37	8	113256691	113256691	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:113256691G>A	ENST00000297405.5	-	65	10578	c.10334C>T	c.(10333-10335)gCa>gTa	p.A3445V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A3445V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTCCACCTGCTAAGAAGAA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	0.810000	1	9.300000e-01	0.990000	0.976244	0.990000	1.000000																										1	Substitution - Missense(1)	p.A3445V(1)	large_intestine(1)	646						c.(10333-10335)gCa>gTa		CUB and Sushi multiple domains 3							132.0	116.0	121.0					8																	113256691		2203	4300	6503	SO:0001583	missense	114788	0	0					g.chr8:113256691G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10334C>T	chr8.hg19:g.113256691G>A	ENSP00000297405:p.Ala3445Val	1	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V	p.A3445V	NM_198123.1	NP_937756.1	2	2	4	2.144854	Q7Z407	CSMD3_HUMAN		65	10578	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.10334C>T	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522882	0.85600	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.37	4.5	0.54988	5.37	4.5	0.54988	Complement control module (2);Sushi/SCR/CCP (3);	0.171297	0.39615	N	0.001317	T	0.55800	0.1943	N	0.10618	0.005	0.43896	D	0.996523	P;P;D	0.58970	0.532;0.65;0.984	B;B;P	0.59171	0.356;0.428;0.853	T	0.56768	-0.7924	10	0.25106	T	0.35	.	14.1728	0.65522	0.0714:0.0:0.9286:0.0	.	3276;3445;3405	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3405;3445;2715;3276;3375	ENSP00000345799:A3405V;ENSP00000297405:A3445V;ENSP00000341558:A2715V;ENSP00000412263:A3276V;ENSP00000343124:A3375V	ENSP00000297405:A3445V	A	-	2	0	0	CSMD3	113325867	113325867	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.554000	0.82212	1.508000	0.48769	-0.229000	0.12294	GCA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	2	2	2	2	0	0	0	0	90	90	90	89	1	3.280000	-17.324610	1	0.240000	NM_052900		0	52	50	0	451	445	1		1			0	0	90	0	0	1.000000	0	0	0	0	0	0	52	451
RP1	6101	broad.mit.edu	37	8	55539537	55539537	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:55539537A>G	ENST00000220676.1	+	4	3243	c.3095A>G	c.(3094-3096)aAt>aGt	p.N1032S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1032					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGCTATTAATGATCATAAT	0.378																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				169						c.(3094-3096)aAt>aGt		retinitis pigmentosa 1 (autosomal dominant)							158.0	173.0	168.0					8																	55539537		2203	4300	6503	SO:0001583	missense	6101	0	0					g.chr8:55539537A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3095A>G	chr8.hg19:g.55539537A>G	ENSP00000220676:p.Asn1032Ser	1						p.N1032S	NM_006269.1	NP_006260.1	2	2	4	2.144854	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)	4	3243	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)		Missense_Mutation	SNP	ENST00000220676.1	1	1	hg19	c.3095A>G	CCDS6160.1	1	.	.	.	.	.	.	.	.	.	.	A	2.654	-0.281375	0.05642	.	.	ENSG00000104237	ENST00000220676	T	0.20881	2.04	5.32	1.41	0.22369	5.32	1.41	0.22369	.	0.779574	0.11892	N	0.519542	T	0.08891	0.0220	N	0.04959	-0.14	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.29150	-1.0021	10	0.41790	T	0.15	.	3.9076	0.09190	0.5898:0.0:0.2595:0.1508	.	1032	P56715	RP1_HUMAN	S	1032	ENSP00000220676:N1032S	ENSP00000220676:N1032S	N	+	2	0	0	RP1	55702090	55702090	0.000000	0.05858	0.006000	0.13384	0.072000	0.16883	-0.139000	0.10358	0.435000	0.26365	0.533000	0.62120	AAT	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.378	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1	2	2	2	2	0	0	0	0	196	196	196	195	1	3.280000	-20.000000	1	0.240000	NM_006269		0	211	208	0	784	776	1		1			0	0	196	0	0	1.000000	0	0	0	0	0	0	211	784
NBN	4683	broad.mit.edu	37	8	90965576	90965576	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:90965576G>T	ENST00000265433.3	-	11	1895	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	581					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGTTTTTGAACTTTCACA	0.348								Homologous recombination																														ENST00000265433.3	0.340000	0.120000	2.800000e-01	1.700000e-01	0.220000	0.230014	0.220000	0.210000																										0				27						c.(1741-1743)Caa>Aaa	Homologous recombination	nibrin							315.0	311.0	312.0					8																	90965576		2203	4299	6502	SO:0001583	missense	4683	0	0					g.chr8:90965576G>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1741C>A	chr8.hg19:g.90965576G>T	ENSP00000265433:p.Gln581Lys	1					NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	p.Q581K	NM_002485.4	NP_002476.2	2	2	4	2.144854	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)	11	1895	-			B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	0	1	hg19	c.1741C>A	CCDS6249.1	0	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749994	0.15778	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58060	1.99;0.36	5.29	0.895	0.19247	5.29	0.895	0.19247	.	1.667470	0.02817	N	0.125095	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.12766	T	0.61	-0.018	9.8904	0.41288	0.0:0.5366:0.322:0.1413	.	581;581	A6H8Y5;O60934	.;NBN_HUMAN	K	581;499	ENSP00000265433:Q581K;ENSP00000386924:Q499K	ENSP00000265433:Q581K	Q	-	1	0	0	NBN	91034752	91034752	0.001000	0.12720	0.261000	0.24466	0.911000	0.54048	0.129000	0.15830	0.139000	0.18822	0.650000	0.86243	CAA	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	0	0	1	2	2	2	2	0	0	0	0	157	157	157	156	1	3.280000	-2.506821	1	0.240000	NM_001024688		0	18	17	0	832	825	0		1	0		0	0	157	0	0	0.999980	3.753665e-01	0	0	0	59	0	18	832
SLC26A7	115111	broad.mit.edu	37	8	92365218	92365218	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:92365218C>A	ENST00000276609.3	+	11	1547	c.1308C>A	c.(1306-1308)atC>atA	p.I436I	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.I436I|SLC26A7_ENST00000309536.2_Silent_p.I436I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGATAAAATCGATTGGGTAA	0.308																																						ENST00000276609.3	0.580000	0.240000	4.900000e-01	3.100000e-01	0.390000	0.406359	0.390000	0.400000																										0				50						c.(1306-1308)atC>atA		solute carrier family 26 (anion exchanger), member 7							84.0	89.0	87.0					8																	92365218		2203	4299	6502	SO:0001819	synonymous_variant	115111	0	0					g.chr8:92365218C>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1308C>A	chr8.hg19:g.92365218C>A		1					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.I436I|SLC26A7_ENST00000309536.2_Silent_p.I436I	p.I436I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	2	2	4	2.144854			BRCA - Breast invasive adenocarcinoma(11;0.00802)	11	1547	+				Silent	SNP	ENST00000276609.3	1	0	hg19	c.1308C>A	CCDS6254.1	0																																																																																								0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.308	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1	1	0	1	2	2	2	2	0	0	0	0	76	76	76	75	1	3.280000	-3.801436	1	0.240000			0	19	18	0	486	481	0		1			0	0	76	0	0	0.999990	0	0	0	0	0	0	19	486
MTERF3	51001	broad.mit.edu	37	8	97263135	97263135	+	Splice_Site	SNP	T	T	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:97263135T>A	ENST00000287025.3	-	4	774	c.676A>T	c.(676-678)Agg>Tgg	p.R226W	MTERFD1_ENST00000524341.1_Splice_Site_p.R36W|MTERFD1_ENST00000523821.1_Splice_Site_p.R226W|MTERFD1_ENST00000522822.1_Splice_Site_p.R105W	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		226					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAGTCCTACCTGGTCTTCAGA	0.368																																						ENST00000287025.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				24						c.(676-678)Agg>Tgg									81.0	84.0	83.0					8																	97263135		2203	4300	6503	SO:0001630	splice_region_variant	0	0	0					g.chr8:97263135T>A																												ENST00000287025.3:c.677+1A>T	chr8.hg19:g.97263135T>A		1					MTERFD1_ENST00000522822.1_Splice_Site_p.R105W|MTERFD1_ENST00000523821.1_Splice_Site_p.R226W|MTERFD1_ENST00000524341.1_Splice_Site_p.R36W	p.R226W	NM_015942.3	NP_057026.3	2	2	4	2.144854	Q96E29	MTEF3_HUMAN		4	774	-	Breast(36;5.16e-05)		B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	1	0	hg19	c.676A>T	CCDS6270.1	1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566661	0.65651	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.090695	0.85682	D	0.000000	T	0.38054	0.1026	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26883	-1.0090	10	0.40728	T	0.16	-6.2986	14.5668	0.68182	0.0:0.0:0.0:1.0	.	226;226	E5RIK9;Q96E29	.;MTER1_HUMAN	W	226;105;36;226	ENSP00000429400:R226W;ENSP00000430138:R105W;ENSP00000429267:R36W;ENSP00000287025:R226W	ENSP00000287025:R226W	R	-	1	2	2	MTERFD1	97332311	97332311	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	5.366000	0.66122	2.172000	0.68678	0.482000	0.46254	AGG	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.368	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1	1	0	1	2	2	2	2	0	0	0	0	86	86	86	85	1	3.280000	-20.000000	1	0.240000		Missense_Mutation	0	96	96	0	402	395	1		1	0		0	0	86	0	0	1.000000	9.507138e-01	0	1	0	22	0	96	402
POP1	10940	broad.mit.edu	37	8	99142441	99142441	+	Missense_Mutation	SNP	G	G	A	rs148502433		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:99142441G>A	ENST00000401707.2	+	5	803	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	241					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATGACGAACCGGTGCCTCCTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.0		0.001	False		,,,				2504	0.0					ENST00000401707.2	0.250000	0.050000	2.000000e-01	8.000000e-02	0.130000	0.145174	0.130000	0.120000																										0				36						c.(721-723)cGg>cAg		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	75.0	74.0	74.0		722,722,722	-1.7	0.0	8	dbSNP_134	74	2,8596		0,2,4297	yes	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	43,43,43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	241/1025,241/1025,241/1025	99142441	2,13002	2203	4299	6502	SO:0001583	missense	10940	25	121410	47				g.chr8:99142441G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.722G>A	chr8.hg19:g.99142441G>A	ENSP00000385787:p.Arg241Gln	1					POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	2	2	4	2.144854	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)	5	803	+	Breast(36;1.78e-06)		A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	0	1	hg19	c.722G>A	CCDS6277.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.70	1.424994	0.25639	0.0	2.33E-4	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41758	0.99;0.99	5.91	-1.73	0.08081	5.91	-1.73	0.08081	Ribonuclease P/MRP, subunit POP1 (1);	0.441265	0.23766	N	0.044766	T	0.20170	0.0485	L	0.28400	0.85	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.06917	-1.0800	9	.	.	.	-14.9496	0.3734	0.00383	0.3481:0.131:0.2675:0.2534	.	241	Q99575	POP1_HUMAN	Q	241	ENSP00000385787:R241Q;ENSP00000339529:R241Q	.	R	+	2	0	0	POP1	99211617	99211617	0.044000	0.20184	0.001000	0.08648	0.221000	0.24807	1.582000	0.36568	-0.185000	0.10550	-0.176000	0.13171	CGG	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	0	0	1	2	2	2	2	0	0	0	0	101	101	101	95	1	3.280000	-2.641306	1	0.240000	NM_015029		0	7	7	0	559	542	0		1	0		0	0	101	0	0	0.978498	2.143319e-03	0	0	0	5	0	7	559
COL14A1	7373	broad.mit.edu	37	8	121160132	121160132	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:121160132G>T	ENST00000297848.3	+	2	321	c.51G>T	c.(49-51)ttG>ttT	p.L17F	COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACCTTTTTTGGCAATTGTTT	0.408																																						ENST00000297848.3	0.360000	0.080000	2.800000e-01	1.300000e-01	0.190000	0.212530	0.190000	0.200000																										0				119						c.(49-51)ttG>ttT		collagen, type XIV, alpha 1							116.0	109.0	111.0					8																	121160132		2203	4300	6503	SO:0001583	missense	7373	0	0					g.chr8:121160132G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.51G>T	chr8.hg19:g.121160132G>T	ENSP00000297848:p.Leu17Phe	1					COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F|COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR	p.L17F	NM_021110.1	NP_066933.1	2	2	4	2.144854			OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)	2	321	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)			Missense_Mutation	SNP	ENST00000297848.3	0	1	hg19	c.51G>T	CCDS34938.1	0	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102890	0.20632	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.88896	0.4;-2.23;-2.26;-2.44	5.92	5.04	0.67666	5.92	5.04	0.67666	.	0.680937	0.13024	N	0.419846	D	0.82683	0.5090	N	0.24115	0.695	0.20563	N	0.999883	B	0.02656	0.0	B	0.04013	0.001	T	0.73927	-0.3828	10	0.66056	D	0.02	.	12.49	0.55895	0.0:0.0:0.8328:0.1672	.	17	Q05707	COEA1_HUMAN	F	17	ENSP00000443974:L17F;ENSP00000311809:L17F;ENSP00000297848:L17F;ENSP00000247781:L17F	ENSP00000247781:L17F	L	+	3	2	2	COL14A1	121229313	121229313	0.226000	0.23696	0.731000	0.30826	0.189000	0.23516	1.973000	0.40550	1.505000	0.48720	0.655000	0.94253	TTG	0.387097		TCGA-YB-A89D-01A-12D-A36O-08	0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	0	0	1	2	2	2	2	0	0	0	0	89	89	89	89	1	3.280000	-4.344852	1	0.240000	NM_021110		0	8	8	0	426	420	0		1	0		0	0	89	0	0	0.988896	3.606061e-01	0	0	0	62	0	8	426
ZNF462	58499	broad.mit.edu	37	9	109688806	109688806	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:109688806C>A	ENST00000277225.5	+	3	2902	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	871					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACATTAAATTCAGCTTTAGGT	0.443																																						ENST00000277225.5	0.320000	0.120000	2.600000e-01	1.600000e-01	0.200000	0.213807	0.200000	0.210000																										0				119						c.(2611-2613)ttC>ttA		zinc finger protein 462							169.0	151.0	157.0					9																	109688806		2203	4300	6503	SO:0001583	missense	58499	0	0					g.chr9:109688806C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2613C>A	chr9.hg19:g.109688806C>A	ENSP00000277225:p.Phe871Leu	0					ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L	p.F871L			1	2	3	1.937552	Q96JM2	ZN462_HUMAN		3	2902	+			Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	0	1	hg19	c.2613C>A	CCDS35096.1	0	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443804	0.63067	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.11385	2.78;3.18	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.74674	0.984;0.956	T	0.33445	-0.9868	9	.	.	.	.	13.2624	0.60113	0.0:0.9279:0.0:0.072	.	871;871	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	871	ENSP00000277225:F871L;ENSP00000414570:F871L	.	F	+	3	2	2	ZNF462	108728627	108728627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.731000	0.93534	0.650000	0.86243	TTC	0.320701		TCGA-YB-A89D-01A-12D-A36O-08	0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	0	0	1	2	2	2	2	0	0	0	0	218	218	218	216	1	3.280000	-2.707120	1	0.240000	NM_021224		0	19	19	0	849	841	0		1	0		0	0	218	0	0	0.999989	5.517198e-04	0	0	0	2	0	19	849
GRHPR	9380	broad.mit.edu	37	9	37425975	37425975	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:37425975G>A	ENST00000318158.6	+	3	356	c.271G>A	c.(271-273)Gat>Aat	p.D91N	GRHPR_ENST00000607784.1_Missense_Mutation_p.D91N|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	91					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CTTGGCTTTGGATGAAATCAA	0.488																																						ENST00000318158.6			0	0																														0				12						c.(271-273)Gat>Aat		glyoxylate reductase/hydroxypyruvate reductase							115.0	100.0	105.0					9																	37425975		2203	4300	6503	SO:0001583	missense	9380	0	0					g.chr9:37425975G>A	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.271G>A	chr9.hg19:g.37425975G>A	ENSP00000313432:p.Asp91Asn						GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Missense_Mutation_p.D91N	p.D91N	NM_012203.1	NP_036335.1					Q9UBQ7	GRHPR_HUMAN		3	356	+			Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	1	0	hg19	c.271G>A	CCDS6609.1		.	.	.	.	.	.	.	.	.	.	G	19.81	3.896202	0.72639	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.85088	-1.94;-1.94	5.72	5.72	0.89469	5.72	5.72	0.89469	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.238434	0.47455	D	0.000233	T	0.81856	0.4911	L	0.39147	1.195	0.58432	D	0.999999	B;B;B	0.14805	0.011;0.0;0.0	B;B;B	0.21546	0.035;0.004;0.004	T	0.75448	-0.3314	10	0.35671	T	0.21	-15.1581	18.5201	0.90948	0.0:0.0:1.0:0.0	.	91;91;91	Q5T946;Q5T945;Q9UBQ7	.;.;GRHPR_HUMAN	N	91	ENSP00000367055:D91N;ENSP00000313432:D91N	ENSP00000313432:D91N	D	+	1	0	0	GRHPR	37415975	37415975	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.338000	0.79269	2.708000	0.92522	0.650000	0.86243	GAT			TCGA-YB-A89D-01A-12D-A36O-08	0.488	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	1	0	1	2	2	2	2	0	0	0	0	58	58	58	56	1	3.280000	-20.000000	1	0.240000	NM_012203		0	24	18	0	268	266	0		1	1		0	0	58	0	0	1.000000	9.999974e-01	0	3	0	236	0	24	268
ZCCHC6	79670	broad.mit.edu	37	9	88953781	88953781	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88953781G>T	ENST00000375963.3	-	9	1464	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P431Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	431					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AACCAGCTTTGGTTCTAGTTT	0.428																																						ENST00000375963.3	0.340000	0.080000	2.600000e-01	1.200000e-01	0.180000	0.194175	0.180000	0.180000																										0				46						c.(1291-1293)cCa>cAa		zinc finger, CCHC domain containing 6							112.0	100.0	104.0					9																	88953781		2203	4300	6503	SO:0001583	missense	79670	0	0					g.chr9:88953781G>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1292C>A	chr9.hg19:g.88953781G>T	ENSP00000365130:p.Pro431Gln	0					ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P431Q|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q	p.P431Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	1	2	3	1.937552	Q5VYS8	TUT7_HUMAN		9	1464	-			Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	0	1	hg19	c.1292C>A	CCDS35057.1	0	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802284	0.90538	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.73681	-0.77;-0.77;-0.77	4.56	4.56	0.56223	4.56	4.56	0.56223	.	0.117764	0.64402	D	0.000017	D	0.84451	0.5475	M	0.77712	2.385	0.51482	D	0.999928	P;P	0.51653	0.947;0.891	P;P	0.58331	0.837;0.617	D	0.86390	0.1735	10	0.59425	D	0.04	-16.5782	17.8715	0.88812	0.0:0.0:1.0:0.0	.	431;431	Q5VYS8-2;Q5VYS8	.;TUT7_HUMAN	Q	431;431;69	ENSP00000365128:P431Q;ENSP00000365130:P431Q;ENSP00000365115:P69Q	ENSP00000365115:P69Q	P	-	2	0	0	ZCCHC6	88143601	88143601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.788000	0.69020	2.520000	0.84964	0.655000	0.94253	CCA	0.320701		TCGA-YB-A89D-01A-12D-A36O-08	0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	0	0	1	2	2	2	2	0	0	0	0	84	84	84	83	1	3.280000	-3.195965	1	0.240000	NM_024617		0	8	7	0	420	411	0		1	0		0	0	84	0	0	0.988341	6.237576e-02	0	0	0	19	0	8	420
ASPN	54829	broad.mit.edu	37	9	95232987	95232987	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:95232987G>T	ENST00000375544.3	-	3	594	c.351C>A	c.(349-351)atC>atA	p.I117I	ASPN_ENST00000395538.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Silent_p.I117I	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	117					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CATTTTCTTTGATTTCCTTAA	0.289																																						ENST00000375544.3	0.390000	0.130000	3.100000e-01	1.800000e-01	0.230000	0.249230	0.230000	0.240000																										0				9						c.(349-351)atC>atA		asporin							79.0	83.0	81.0					9																	95232987		2202	4289	6491	SO:0001819	synonymous_variant	54829	0	0					g.chr9:95232987G>T	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.351C>A	chr9.hg19:g.95232987G>T		0					ASPN_ENST00000395538.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Silent_p.I117I	p.I117I	NM_017680.4	NP_060150	1	2	3	1.937552	Q9BXN1	ASPN_HUMAN		3	594	-			Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	0	1	hg19	c.351C>A		0																																																																																								0.320701		TCGA-YB-A89D-01A-12D-A36O-08	0.289	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	0	0	1	2	2	2	2	0	0	0	0	100	100	100	99	1	3.280000	-3.229789	1	0.240000	NM_017680		0	14	14	0	543	535	0		1	0		0	0	100	0	0	0.999732	9.256721e-01	0	0	0	175	0	14	543
RAB14	51552	broad.mit.edu	37	9	123952957	123952957	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:123952957G>T	ENST00000373840.4	-	4	396	c.159C>A	c.(157-159)atC>atA	p.I53I		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	53					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CACTAACTTCGATTATTCTTG	0.418																																						ENST00000373840.4	0.700000	0.270000	5.600000e-01	3.500000e-01	0.440000	0.462812	0.440000	0.440000																										0				5						c.(157-159)atC>atA		RAB14, member RAS oncogene family							102.0	99.0	100.0					9																	123952957		2203	4300	6503	SO:0001819	synonymous_variant	51552	0	0					g.chr9:123952957G>T	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.159C>A	chr9.hg19:g.123952957G>T		0						p.I53I	NM_016322.3	NP_057406.2	1	2	3	1.931108	P61106	RAB14_HUMAN		4	396	-			B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Silent	SNP	ENST00000373840.4	1	0	hg19	c.159C>A	CCDS6827.1	0																																																																																								0.319971		TCGA-YB-A89D-01A-12D-A36O-08	0.418	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	1	0	0	2	2	2	2	0	0	0	0	70	70	70	68	1	3.280000	-4.810085	1	0.240000	NM_016322		0	19	19	0	384	377	0		1	0		0	0	70	0	0	0.999990	9.785283e-01	0	0	0	129	0	19	384
RPS6KA6	27330	broad.mit.edu	37	X	83372157	83372157	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:83372157C>A	ENST00000262752.2	-	11	868		c.e11-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGTTTTGCTCTGAAACAGAG	0.323																																						ENST00000262752.2	0.220000	0.040000	1.700000e-01	7.000000e-02	0.110000	0.125589	0.110000	0.110000																										0				46						c.e11-1		ribosomal protein S6 kinase, 90kDa, polypeptide 6							42.0	40.0	41.0					X																	83372157		2202	4294	6496	SO:0001630	splice_region_variant	27330	0	0					g.chrX:83372157C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.861-1G>T	chrX.hg19:g.83372157C>A							RPS6KA6_ENST00000543399.1_Splice_Site		NM_014496.4	NP_055311.1	0	1	1		Q9UK32	KS6A6_HUMAN		11	868	-			B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Splice_Site	SNP	ENST00000262752.2	0	1	hg19		CCDS14451.1	0	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869083	0.72065	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	4.64	4.64	0.57946	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0306	0.86460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	RPS6KA6	83258813	83258813	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.552000	0.82192	2.028000	0.59812	0.600000	0.82982	.	0.240000		TCGA-YB-A89D-01A-12D-A36O-08	0.323	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	0	0	1	2	2	2	2	0	0	0	0	36	36	36	36	1	3.280000	-3.292772	1	0.240000	NM_014496	Intron	0	6	6	0	221	216	0		1			0	0	36	0	0	0.963101	0	0	0	0	0	0	6	221
