#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_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_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	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_tissue_types_affected	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	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_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_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_genename	i_dbNSFP_hg18_pos(1-coor)	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_entrez_gene_id	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PTCHD2	57540	broad.mit.edu	37	1	11561646	11561646	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:11561646G>C	ENST00000294484.6	+	2	735	c.597G>C	c.(595-597)cgG>cgC	p.R199R	PTCHD2_ENST00000389575.3_Silent_p.R199R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	199					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.R416R(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGCCAATCGGAGCGGGCGAC	0.687																																						uc001ash.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(595-597)CGG>CGC		patched domain containing 2							12.0	16.0	14.0					1																	11561646		1946	4140	6086	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561646G>C	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.597G>C	1.37:g.11561646G>C						PTCHD2_uc001asi.1_Silent_p.R199R	p.R199R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	735	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	199			Extracellular (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.597G>C	CCDS41247.1																																																																																				0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561		7	6	0	0	0	0.038147	0	7	6		
EPHA10	284656	broad.mit.edu	37	1	38197144	38197144	+	Silent	SNP	C	C	T	rs77925917	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:38197144C>T	ENST00000373048.4	-	7	1601	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	EPHA10_ENST00000427468.2_Silent_p.P534P|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.P29P|EPHA10_ENST00000540011.1_Silent_p.P29P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	534	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16209	0.0		0.0	False		,,,				2504	0.0					uc009vvi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(4)|stomach(3)|lung(1)	8						c.(1600-1602)CCG>CCA		EPH receptor A10 isofom 3		C		6,3738		0,6,1866	80.0	82.0	81.0		1602	-7.8	0.9	1	dbSNP_133	81	0,8202		0,0,4101	no	coding-synonymous	EPHA10	NM_001099439.1		0,6,5967	TT,TC,CC		0.0,0.1603,0.0502		534/1009	38197144	6,11940	1872	4101	5973	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197144C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1602G>A	1.37:g.38197144C>T						EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.P534P	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			7	1688	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	534			Fibronectin type-III 2.|Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1602G>A	CCDS41305.1																																																																																				0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2		NM_173641		30	63	0	0	0	0.059317	0	30	63		
MACF1	23499	broad.mit.edu	37	1	39818703	39818703	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:39818703G>C	ENST00000372915.3	+	43	11326	c.11239G>C	c.(11239-11241)Gag>Cag	p.E3747Q	MACF1_ENST00000564288.1_Missense_Mutation_p.E3742Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E1680Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1680Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1680Q|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E3779Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E2182Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E1680Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3747					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E2182Q(1)|p.E1680Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAACTGGCAGAGAACAAGAA	0.473																																						uc010oiu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(6544-6546)GAG>CAG		microfilament and actin filament cross-linker							88.0	75.0	79.0					1																	39818703		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39818703G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11239G>C	1.37:g.39818703G>C	ENSP00000362006:p.Glu3747Gln					MACF1_uc010ois.1_Missense_Mutation_p.E1680Q|MACF1_uc001cda.1_Missense_Mutation_p.E1588Q|MACF1_uc001cdc.1_Missense_Mutation_p.E767Q|MACF1_uc001cdb.1_Missense_Mutation_p.E767Q	p.E2182Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		8	6675	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3747					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6544G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.567888|4.567888	0.86439|0.86439	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;D;T|.	0.92595|.	-0.87;-0.94;-0.87;-0.9;-0.68;-3.07;0.16|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.64402|.	D|.	0.000008|.	T|T	0.77558|0.77558	0.4148|0.4148	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	1.0;0.928;0.99;0.993|.	D;P;P;D|.	0.79108|.	0.992;0.775;0.885;0.947|.	T|T	0.76767|0.76767	-0.2838|-0.2838	10|5	0.59425|.	D|.	0.04|.	.|.	19.4665|19.4665	0.94945|0.94945	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3747;1680;1680;1645|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	Q|T	1680;3747;1680;1680;1680;1829;2182|813	ENSP00000439537:E1680Q;ENSP00000362006:E3747Q;ENSP00000354573:E1680Q;ENSP00000313438:E1680Q;ENSP00000444364:E1680Q;ENSP00000437059:E1829Q;ENSP00000289893:E2182Q|.	ENSP00000289893:E2182Q|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39591290|39591290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.856000|0.856000	0.48823|0.48823	6.783000|6.783000	0.75078|0.75078	2.591000|2.591000	0.87537|0.87537	0.555000|0.555000	0.69702|0.69702	GAG|AGA		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		12	23	0	0	0	0.020292	0	12	23		
MACF1	23499	broad.mit.edu	37	1	39818900	39818900	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:39818900G>A	ENST00000372915.3	+	43	11523	c.11436G>A	c.(11434-11436)atG>atA	p.M3812I	MACF1_ENST00000564288.1_Missense_Mutation_p.M3807I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1745I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1745I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1745I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.M3844I|MACF1_ENST00000289893.4_Missense_Mutation_p.M2247I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1745I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3812					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.M2247I(1)|p.M1745I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAGATGATGAAGGTAAGGG	0.493																																						uc010oiu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(6739-6741)ATG>ATA		microfilament and actin filament cross-linker							105.0	99.0	101.0					1																	39818900		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39818900G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11436G>A	1.37:g.39818900G>A	ENSP00000362006:p.Met3812Ile					MACF1_uc010ois.1_Missense_Mutation_p.M1745I|MACF1_uc001cda.1_Missense_Mutation_p.M1653I|MACF1_uc001cdc.1_Missense_Mutation_p.M832I|MACF1_uc001cdb.1_Missense_Mutation_p.M832I	p.M2247I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		8	6872	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3812					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6741G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.497|8.497	0.863303|0.863303	0.17250|0.17250	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	.|T;T;T;T;T;D;T	.|0.86562	.|0.12;0.12;0.12;0.08;0.28;-2.14;1.2	5.48|5.48	3.45|3.45	0.39498|0.39498	.|.	.|0.804728	.|0.11352	.|N	.|0.572885	T|T	0.81721|0.81721	0.4882|0.4882	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.18166	.|0.0;0.026;0.001;0.001	.|B;B;B;B	.|0.17979	.|0.005;0.02;0.003;0.006	T|T	0.73474|0.73474	-0.3971|-0.3971	5|10	.|0.29301	.|T	.|0.29	.|.	9.7031|9.7031	0.40198|0.40198	0.1426:0.0:0.8574:0.0|0.1426:0.0:0.8574:0.0	.|.	.|3812;1745;1745;1710	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	K|I	879|1745;3812;1745;1745;1745;1894;2247	.|ENSP00000439537:M1745I;ENSP00000362006:M3812I;ENSP00000354573:M1745I;ENSP00000313438:M1745I;ENSP00000444364:M1745I;ENSP00000437059:M1894I;ENSP00000289893:M2247I	.|ENSP00000289893:M2247I	E|M	+|+	1|3	0|0	MACF1|MACF1	39591487|39591487	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.345000|0.345000	0.29048|0.29048	2.239000|2.239000	0.43079|0.43079	1.203000|1.203000	0.43233|0.43233	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		9	11	0	0	0	0.047766	0	9	11		
RNF220	55182	broad.mit.edu	37	1	45101242	45101242	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:45101242G>A	ENST00000355387.2	+	7	1425	c.975G>A	c.(973-975)agG>agA	p.R325R	TMEM53_ENST00000372243.3_3'UTR|TMEM53_ENST00000372242.3_3'UTR|RNF220_ENST00000372247.2_Silent_p.R325R|RNF220_ENST00000361799.2_Silent_p.R325R|RNF220_ENST00000443020.2_Silent_p.R86R|TMEM53_ENST00000372244.3_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	325					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R325R(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGAAACGGAGGAAGCAAGATG	0.567																																						uc001clv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)	2						c.(973-975)AGG>AGA		ring finger protein 220							170.0	140.0	150.0					1																	45101242		2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45101242G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.975G>A	1.37:g.45101242G>A						RNF220_uc001clw.1_Silent_p.R325R|RNF220_uc010okx.1_Silent_p.R86R|RNF220_uc010oky.1_Silent_p.R86R|RNF220_uc010okz.1_Silent_p.R41R|RNF220_uc001clx.1_Silent_p.R41R|RNF220_uc001cly.1_Silent_p.R4R|RNF220_uc001clz.1_Silent_p.R4R|RNF220_uc001cma.1_Silent_p.R4R|TMEM53_uc001cmb.1_3'UTR	p.R325R	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			7	1335	+			325					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.975G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379705	0.24944	.	.	ENSG00000187147	ENST00000453863	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.75671	0.3881	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72814	-0.4179	4	.	.	.	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	.	.	.	K	48	.	.	E	+	1	0	RNF220	44873829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.894000	0.99253	0.591000	0.81541	GAA		0.567	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4		NM_018150		17	26	0	0	0	0.043863	0	17	26		
YIPF1	54432	broad.mit.edu	37	1	54332522	54332522	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:54332522C>G	ENST00000072644.1	-	8	893	c.557G>C	c.(556-558)aGa>aCa	p.R186T	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.R211T|YIPF1_ENST00000371399.1_Missense_Mutation_p.R3T	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	186						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.R186T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTTGCTGTTTCTCCACATGAG	0.458																																						uc001cvu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(556-558)AGA>ACA		Yip1 domain family, member 1							114.0	98.0	104.0					1																	54332522		2203	4300	6503	SO:0001583	missense	54432					integral to membrane|transport vesicle		g.chr1:54332522C>G	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.557G>C	1.37:g.54332522C>G	ENSP00000072644:p.Arg186Thr					YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	p.R186T	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN			8	894	-			186			Cytoplasmic (Potential).		B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	c.557G>C	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468865	0.96274	.	.	ENSG00000058799	ENST00000371399;ENST00000072644;ENST00000539954;ENST00000412288	T;T;T	0.41758	0.99;0.99;0.99	6.01	6.01	0.97437	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55792	-0.8085	10	0.22706	T	0.39	-34.7823	20.5211	0.99222	0.0:1.0:0.0:0.0	.	186	Q9Y548	YIPF1_HUMAN	T	3;186;211;186	ENSP00000072644:R186T;ENSP00000439926:R211T;ENSP00000416507:R186T	ENSP00000072644:R186T	R	-	2	0	YIPF1	54105110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.729000	0.84864	2.861000	0.98227	0.650000	0.86243	AGA		0.458	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5		NM_018982		23	28	0	0	0	0.076483	0	23	28		
RAVER2	55225	broad.mit.edu	37	1	65247172	65247172	+	Missense_Mutation	SNP	G	G	A	rs186869355		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:65247172G>A	ENST00000294428.3	+	4	974	c.896G>A	c.(895-897)gGc>gAc	p.G299D	RAVER2_ENST00000430964.2_Missense_Mutation_p.G5D|RAVER2_ENST00000371072.4_Missense_Mutation_p.G299D			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	299	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G299D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCATCAAGGGCAGCAAAGTC	0.517																																						uc001dbs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(895-897)GGC>GAC		ribonucleoprotein, PTB-binding 2							155.0	160.0	158.0					1																	65247172		2050	4200	6250	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65247172G>A	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.896G>A	1.37:g.65247172G>A	ENSP00000294428:p.Gly299Asp					RAVER2_uc001dbt.1_Missense_Mutation_p.G178D|RAVER2_uc010opb.1_Missense_Mutation_p.G178D	p.G299D	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			4	974	+			299			RRM 3.		Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.896G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.86	2.959239	0.53400	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.09445	2.98;2.98	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050482	0.85682	D	0.000000	T	0.24774	0.0601	L	0.61036	1.89	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00679	-1.1613	10	0.52906	T	0.07	-15.2203	19.2239	0.93810	0.0:0.0:1.0:0.0	.	299;299	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	D	299;299;5	ENSP00000360112:G299D;ENSP00000294428:G299D	ENSP00000294428:G299D	G	+	2	0	RAVER2	65019760	1.000000	0.71417	0.349000	0.25694	0.017000	0.09413	7.199000	0.77831	2.562000	0.86427	0.591000	0.81541	GGC		0.517	RAVER2-201	KNOWN	basic	protein_coding	protein_coding			NM_018211		35	49	0	0	0	0.054565	0	35	49		
VAV3	10451	broad.mit.edu	37	1	108145726	108145726	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:108145726C>A	ENST00000370056.4	-	23	2349	c.2075G>T	c.(2074-2076)aGt>aTt	p.S692I	VAV3_ENST00000415432.2_Missense_Mutation_p.S132I|VAV3_ENST00000544443.1_Missense_Mutation_p.S96I|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.S692I	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	692	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.S132I(1)|p.S692I(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGGTAAGTACTATTTACCCT	0.353																																						uc001dvk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|lung(2)|breast(2)	9						c.(2074-2076)AGT>ATT		vav 3 guanine nucleotide exchange factor isoform							156.0	142.0	147.0					1																	108145726		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108145726C>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2075G>T	1.37:g.108145726C>A	ENSP00000359073:p.Ser692Ile					VAV3_uc010ouu.1_Missense_Mutation_p.S96I|VAV3_uc001dvj.1_Missense_Mutation_p.S132I|VAV3_uc010ouv.1_Missense_Mutation_p.S96I|VAV3_uc010ouw.1_Missense_Mutation_p.S692I	p.S692I	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	23	2129	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	692			SH2.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.2075G>T	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165913	0.78339	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T;D;T;T	0.92595	1.77;-3.07;1.77;1.77	6.04	5.12	0.69794	SH2 motif (5);	0.114139	0.85682	D	0.000000	D	0.94348	0.8183	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.967;0.985;0.999	D;D;D;D	0.76071	0.987;0.934;0.956;0.956	D	0.95212	0.8326	10	0.87932	D	0	.	16.6121	0.84886	0.1313:0.8687:0.0:0.0	.	692;96;692;132	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	I	692;692;96;132	ENSP00000359073:S692I;ENSP00000432540:S692I;ENSP00000446404:S96I;ENSP00000394897:S132I	ENSP00000359073:S692I	S	-	2	0	VAV3	107947249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	1.531000	0.49152	0.563000	0.77884	AGT		0.353	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2		NM_006113		4	96	1	0	0.00024832	0.009096	0.000261196	4	96		
CSF1	1435	broad.mit.edu	37	1	110466096	110466096	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:110466096G>A	ENST00000329608.6	+	6	1244	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	CSF1_ENST00000369802.3_Missense_Mutation_p.G285R|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Missense_Mutation_p.G285R|CSF1_ENST00000369801.1_Missense_Mutation_p.G285R	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	285					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.G285R(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCCTCTGTCGGGGCCTTCAA	0.612											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dyu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(853-855)GGG>AGG		colony stimulating factor 1 isoform a precursor							37.0	41.0	40.0					1																	110466096		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466096G>A	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.853G>A	1.37:g.110466096G>A	ENSP00000327513:p.Gly285Arg		OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427	CSF1_uc001dyt.2_Missense_Mutation_p.G285R|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.G285R	p.G285R	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1266	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	285			Lumenal (Potential).		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.853G>A	CCDS816.1	.	.	.	.	.	.	.	.	.	.	g	0.023	-1.405815	0.01155	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	3.93	-4.97	0.03029	.	1.917900	0.03257	N	0.182658	T	0.01940	0.0061	N	0.17474	0.49	0.09310	N	1	B;B	0.28470	0.213;0.108	B;B	0.23852	0.049;0.014	T	0.33189	-0.9878	10	0.18276	T	0.48	.	1.7915	0.03053	0.4395:0.2422:0.1952:0.1231	.	285;285	P09603;P09603-2	CSF1_HUMAN;.	R	285;285;244;285;285	ENSP00000342718:G285R;ENSP00000327513:G285R;ENSP00000433837:G244R;ENSP00000358817:G285R;ENSP00000358816:G285R	ENSP00000327513:G285R	G	+	1	0	CSF1	110267619	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.709000	0.05030	-0.654000	0.05394	-3.405000	0.00039	GGG		0.612	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1		NM_000757		32	28	0	0	0	0.050027	0	32	28		
IFI16	3428	broad.mit.edu	37	1	159021525	159021525	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:159021525G>A	ENST00000295809.7	+	10	1977	c.1722G>A	c.(1720-1722)caG>caA	p.Q574Q	IFI16_ENST00000340979.6_Silent_p.Q462Q|IFI16_ENST00000430894.2_Silent_p.Q522Q|IFI16_ENST00000448393.2_Silent_p.Q462Q|IFI16_ENST00000368131.4_Silent_p.Q518Q|IFI16_ENST00000368132.3_Silent_p.Q518Q|IFI16_ENST00000359709.3_Silent_p.Q518Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	574	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.Q518Q(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACAGTGCCCAGAGTGACCTCA	0.418																																						uc001ftg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1552-1554)CAG>CAA		interferon, gamma-inducible protein 16							83.0	87.0	85.0					1																	159021525		2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021525G>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1722G>A	1.37:g.159021525G>A						IFI16_uc010pis.1_Silent_p.Q518Q|IFI16_uc001fth.2_Silent_p.Q61Q|IFI16_uc010pit.1_Silent_p.Q117Q	p.Q518Q	NM_005531	NP_005522	Q16666	IF16_HUMAN			9	1844	+	all_hematologic(112;0.0429)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.1554G>A		.	.	.	.	.	.	.	.	.	.	G	1.627	-0.520016	0.04171	.	.	ENSG00000163565	ENST00000448393	.	.	.	4.85	-1.51	0.08664	.	.	.	.	.	T	0.08846	0.0219	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36311	-0.9753	4	.	.	.	.	4.6331	0.12511	0.3099:0.2883:0.4018:0.0	.	.	.	.	K	283	.	.	R	+	2	0	IFI16	157288149	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.656000	0.05342	-0.484000	0.06763	-1.301000	0.01330	AGA		0.418	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1		NM_005531		44	56	0	0	0	0.104719	0	44	56		
PRDX6	9588	broad.mit.edu	37	1	173454533	173454533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:173454533G>T	ENST00000340385.5	+	3	418	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	96	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.E96*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGAGCCCACAGAAAAGTTACC	0.438																																						uc001giy.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(286-288)GAA>TAA		peroxiredoxin 6							145.0	136.0	139.0					1																	173454533		2203	4300	6503	SO:0001587	stop_gained	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173454533G>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.286G>T	1.37:g.173454533G>T	ENSP00000342026:p.Glu96*						p.E96*	NM_004905	NP_004896	P30041	PRDX6_HUMAN			3	337	+			96			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Nonsense_Mutation	SNP	ENST00000340385.5	37	c.286G>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305991	0.95629	.	.	ENSG00000117592	ENST00000340385	.	.	.	5.27	5.27	0.74061	.	0.273464	0.43110	D	0.000610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-17.9239	18.0125	0.89229	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000342026:E96X	E	+	1	0	PRDX6	171721156	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	2.614000	0.88457	0.650000	0.86243	GAA		0.438	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1		NM_004905		30	35	1	0	3.1745e-13	0.037714	3.60623e-13	30	35		
KIF21B	23046	broad.mit.edu	37	1	200967639	200967639	+	Silent	SNP	G	G	A	rs368106761		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:200967639G>A	ENST00000422435.2	-	14	2266	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	KIF21B_ENST00000360529.5_Silent_p.I650I|KIF21B_ENST00000332129.2_Silent_p.I650I|KIF21B_ENST00000461742.2_Silent_p.I650I	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	650					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I650I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGCTCGTCGATCAGCTTCT	0.562																																						uc001gvs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(3)	6						c.(1948-1950)ATC>ATT		kinesin family member 21B		G		1,4405	2.1+/-5.4	0,1,2202	100.0	93.0	95.0		1950	-9.8	0.1	1		95	0,8600		0,0,4300	no	coding-synonymous	KIF21B	NM_017596.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		650/1625	200967639	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200967639G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1950C>T	1.37:g.200967639G>A						KIF21B_uc001gvr.1_Silent_p.I650I|KIF21B_uc009wzl.1_Silent_p.I650I|KIF21B_uc010ppn.1_Silent_p.I650I	p.I650I	NM_017596	NP_060066	O75037	KI21B_HUMAN			14	2267	-			650			Potential.		B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1950C>T	CCDS58056.1																																																																																				0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332		32	62	0	0	0	0.045705	0	32	62		
EPRS	2058	broad.mit.edu	37	1	220162081	220162081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:220162081G>A	ENST00000366923.3	-	19	2895	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	876	3 X 57 AA approximate repeats.|WHEP-TRS 2.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.Q876*(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AATGGGGGCTGACCAGGTATG	0.403																																						uc001hly.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2626-2628)CAG>TAG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						116.0	124.0	121.0					1																	220162081		2203	4299	6502	SO:0001587	stop_gained	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220162081G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2626C>T	1.37:g.220162081G>A	ENSP00000355890:p.Gln876*					EPRS_uc010puf.1_Nonsense_Mutation_p.Q627*|EPRS_uc001hlz.1_Nonsense_Mutation_p.Q883*	p.Q876*	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	19	2896	-			876			WHEP-TRS 2.|3 X 57 AA approximate repeats.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	ENST00000366923.3	37	c.2626C>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	42	9.398857	0.99159	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.74	4.77	0.60923	.	0.488454	0.23682	N	0.045603	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-19.7288	15.5602	0.76237	0.0:0.0:0.8615:0.1385	.	.	.	.	X	876;883;900	.	ENSP00000355890:Q876X	Q	-	1	0	EPRS	218228704	0.996000	0.38824	0.922000	0.36590	0.938000	0.57974	2.740000	0.47418	2.697000	0.92050	0.551000	0.68910	CAG		0.403	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2		NM_004446		66	62	0	0	0	0.048971	0	66	62		
RAB3GAP2	25782	broad.mit.edu	37	1	220331158	220331158	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:220331158G>C	ENST00000358951.2	-	30	3438	c.3322C>G	c.(3322-3324)Cag>Gag	p.Q1108E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1108					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.Q1108E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ATTAAGATCTGAAGAAGATCC	0.363																																						uc010puk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(3322-3324)CAG>GAG		rab3 GTPase-activating protein, non-catalytic							81.0	77.0	78.0					1																	220331158		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220331158G>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3322C>G	1.37:g.220331158G>C	ENSP00000351832:p.Gln1108Glu					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.Q688E|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.Q52E	p.Q1108E	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	30	3486	-			1108					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3322C>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157888	0.57368	.	.	ENSG00000118873	ENST00000358951	T	0.30714	1.52	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.34521	1.04	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.53954	0.738;0.738	T	0.02371	-1.1169	10	0.11794	T	0.64	.	19.5886	0.95498	0.0:0.0:1.0:0.0	.	1108;1108	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	E	1108	ENSP00000351832:Q1108E	ENSP00000351832:Q1108E	Q	-	1	0	RAB3GAP2	218397781	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.462000	0.80851	2.642000	0.89623	0.591000	0.81541	CAG		0.363	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2		NM_012414		16	17	0	0	0	0.043863	0	16	17		
COX20	116228	broad.mit.edu	37	1	245006464	245006464	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:245006464A>G	ENST00000411948.2	+	4	736	c.343A>G	c.(343-345)Agc>Ggc	p.S115G	HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000498262.1_3'UTR|HNRNPU-AS1_ENST00000489705.1_RNA|COX20_ENST00000366528.3_Missense_Mutation_p.S127G	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	115						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S115G(1)									ACACAACGGCAGCAGCAGCAA	0.363																																						uc001iar.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(343-345)AGC>GGC		hypothetical protein LOC116228							58.0	72.0	67.0					1																	245006464		2198	4300	6498	SO:0001583	missense	116228					integral to membrane		g.chr1:245006464A>G	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.343A>G	1.37:g.245006464A>G	ENSP00000406327:p.Ser115Gly					FAM36A_uc001ias.2_RNA|FAM36A_uc001iat.2_RNA|NCRNA00201_uc001iav.2_RNA	p.S115G	NM_198076	NP_932342	Q5RI15	FA36A_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		4	721	+	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		115					Q8WV86	Missense_Mutation	SNP	ENST00000411948.2	37	c.343A>G	CCDS31080.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383237	0.25031	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.63	0.845	0.18950	.	0.823023	0.11980	N	0.510914	T	0.21962	0.0529	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22452	-1.0216	9	0.23891	T	0.37	-0.708	7.9427	0.29967	0.516:0.0:0.484:0.0	.	115	Q5RI15	FA36A_HUMAN	G	115;127	.	ENSP00000355486:S127G	S	+	1	0	FAM36A	243073087	0.029000	0.19370	0.000000	0.03702	0.028000	0.11728	2.699000	0.47077	0.109000	0.17891	-0.385000	0.06624	AGC		0.363	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1		NM_198076		19	31	0	0	0	0.049695	0	19	31		
ZNF25	219749	broad.mit.edu	37	10	38241395	38241395	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:38241395C>T	ENST00000302609.7	-	6	1243	c.1031G>A	c.(1030-1032)tGt>tAt	p.C344Y	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C344Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ACATTTATTACATTCAAAGGG	0.413																																						uc001ize.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1030-1032)TGT>TAT		zinc finger protein 25							64.0	65.0	65.0					10																	38241395		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241395C>T	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.1031G>A	10.37:g.38241395C>T	ENSP00000302222:p.Cys344Tyr					ZNF25_uc001izf.1_Missense_Mutation_p.C308Y	p.C344Y	NM_145011	NP_659448	P17030	ZNF25_HUMAN			6	1136	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	344			C2H2-type 9.		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.1031G>A	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000236	0.74818	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	D	0.85088	-1.94	4.76	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000282	D	0.94735	0.8301	H	0.95950	3.745	0.51012	D	0.9999	D	0.89917	1.0	D	0.97110	1.0	D	0.96034	0.9019	10	0.87932	D	0	-23.9078	15.6504	0.77088	0.0:1.0:0.0:0.0	.	344	P17030	ZNF25_HUMAN	Y	344;308	ENSP00000302222:C344Y	ENSP00000302222:C344Y	C	-	2	0	ZNF25	38281401	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.294000	0.78760	2.626000	0.88956	0.561000	0.74099	TGT		0.413	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1		NM_145011, NM_006966		17	29	0	0	0	0.028581	0	17	29		
LRRC20	55222	broad.mit.edu	37	10	72061222	72061222	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:72061222C>T	ENST00000355790.4	-	5	920	c.443G>A	c.(442-444)aGc>aAc	p.S148N	LRRC20_ENST00000395010.1_Missense_Mutation_p.S92N|LRRC20_ENST00000358141.2_Missense_Mutation_p.S98N|LRRC20_ENST00000395011.1_Missense_Mutation_p.S98N|LRRC20_ENST00000373224.1_Missense_Mutation_p.S148N	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	148								p.S148N(1)		endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GAGGTTGATGCTGCGCAAGGC	0.592																																						uc001jqx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(442-444)AGC>AAC		leucine rich repeat containing 20 isoform 1							124.0	119.0	121.0					10																	72061222		2203	4300	6503	SO:0001583	missense	55222							g.chr10:72061222C>T	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.443G>A	10.37:g.72061222C>T	ENSP00000348043:p.Ser148Asn					LRRC20_uc001jqy.1_Missense_Mutation_p.S92N|LRRC20_uc001jqz.1_Missense_Mutation_p.S98N	p.S148N	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN			5	665	-			148			LRR 5.		Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	c.443G>A	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806984	0.31961	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000395010;ENST00000358141;ENST00000357631;ENST00000446961	T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.6;0.32;0.6;0.32	5.55	2.53	0.30540	.	0.785236	0.12788	N	0.439135	T	0.42086	0.1187	N	0.26162	0.8	0.21386	N	0.999702	B;B;B	0.24043	0.018;0.096;0.049	B;B;B	0.27170	0.015;0.036;0.077	T	0.28776	-1.0033	10	0.27785	T	0.31	-0.6619	7.789	0.29108	0.2806:0.4827:0.2367:0.0	.	98;92;148	Q8TCA0-2;Q8TCA0-3;Q8TCA0	.;.;LRC20_HUMAN	N	148;148;98;92;98;92;148	ENSP00000362321:S148N;ENSP00000348043:S148N;ENSP00000378458:S98N;ENSP00000378457:S92N;ENSP00000350860:S98N;ENSP00000350255:S92N;ENSP00000413745:S148N	ENSP00000348043:S148N	S	-	2	0	LRRC20	71731228	0.000000	0.05858	0.292000	0.24919	0.984000	0.73092	0.409000	0.21082	0.214000	0.20742	0.655000	0.94253	AGC		0.592	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1		NM_018239		45	74	0	0	0	0.048971	0	45	74		
CAMK2G	818	broad.mit.edu	37	10	75602237	75602237	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:75602237G>C	ENST00000351293.3	-	11	939	c.882C>G	c.(880-882)ttC>ttG	p.F294L	CAMK2G_ENST00000423381.1_Missense_Mutation_p.F294L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.F294L|CAMK2G_ENST00000444854.2_Missense_Mutation_p.Q95E|CAMK2G_ENST00000394762.2_Missense_Mutation_p.F294L|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000322635.3_Missense_Mutation_p.F294L|CAMK2G_ENST00000322680.3_Missense_Mutation_p.F294L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.F294L	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	294	Calmodulin-binding.|Calmodulin-binding. {ECO:0000250}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.F294L(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	TCCGGGCATTGAACTTGCGCA	0.542																																						uc001jvv.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(1)|stomach(1)	2						c.(856-858)TTC>TTG		calcium/calmodulin-dependent protein kinase II							134.0	118.0	123.0					10																	75602237		2203	4300	6503	SO:0001583	missense	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75602237G>C	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.882C>G	10.37:g.75602237G>C	ENSP00000277853:p.Phe294Leu					CAMK2G_uc001jvm.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvo.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvq.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvr.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvp.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvs.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.F272L|CAMK2G_uc010qkv.1_Missense_Mutation_p.F13L|CAMK2G_uc009xrp.1_5'Flank	p.F286L	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			11	982	-	Prostate(51;0.0112)		294			Calmodulin-binding.|Calmodulin-binding (By similarity).		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	c.858C>G	CCDS7336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.890622|5.890622	0.97074|0.97074	.|.	.|.	ENSG00000148660|ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765|ENST00000441192;ENST00000444854	T;T;T;T;T;T;T;T|T	0.69685|0.68765	-0.33;1.95;-0.3;-0.31;-0.33;-0.42;-0.36;1.95|-0.35	5.87|5.87	5.87|5.87	0.94306|0.94306	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83691|0.83691	0.5309|0.5309	M|M	0.85859|0.85859	2.78|2.78	0.39077|0.39077	D|D	0.960835|0.960835	P;D;D;D;P;P;D;P;D|.	0.65815|.	0.955;0.958;0.969;0.995;0.89;0.844;0.981;0.725;0.961|.	P;P;P;D;B;B;P;B;P|.	0.65233|.	0.688;0.577;0.608;0.933;0.392;0.293;0.803;0.265;0.85|.	D|D	0.85082|0.85082	0.0946|0.0946	10|6	0.87932|.	D|.	0|.	.|.	20.2079|20.2079	0.98282|0.98282	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	294;286;294;294;294;294;294;294;294|.	Q13555-2;B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8|.	.;.;.;.;.;.;KCC2G_HUMAN;.;.|.	L|E	294;294;294;294;294;294;229;294;294|73;95	ENSP00000277853:F294L;ENSP00000315599:F294L;ENSP00000410298:F294L;ENSP00000319060:F294L;ENSP00000378243:F294L;ENSP00000393784:F229L;ENSP00000307082:F294L;ENSP00000361851:F294L|ENSP00000399680:Q95E	ENSP00000307082:F294L|.	F|Q	-|-	3|1	2|0	CAMK2G|CAMK2G	75272243|75272243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.017000|8.017000	0.88712|0.88712	2.781000|2.781000	0.95711|0.95711	0.655000|0.655000	0.94253|0.94253	TTC|CAA		0.542	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169		23	31	0	0	0	0.108266	0	23	31		
KCNMA1	3778	broad.mit.edu	37	10	78799315	78799315	+	Silent	SNP	G	G	A	rs202015764		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:78799315G>A	ENST00000286628.8	-	15	1829	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	KCNMA1_ENST00000406533.3_Silent_p.F610F|KCNMA1_ENST00000404857.1_Silent_p.F610F|KCNMA1_ENST00000404771.3_Silent_p.F610F|KCNMA1_ENST00000286627.5_Silent_p.F610F|KCNMA1_ENST00000354353.5_Silent_p.F610F|KCNMA1_ENST00000372440.1_Silent_p.F610F|KCNMA1_ENST00000372443.1_Silent_p.F610F	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	610					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.F610F(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACAGACCCACGAAGGCACTGG	0.448																																						uc001jxn.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(2)|ovary(1)	3						c.(1828-1830)TTC>TTT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	G	,,,	0,4406		0,0,2203	232.0	196.0	208.0		1830,1830,1830,1830	2.8	1.0	10		208	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	610/1183,610/1237,610/1220,610/1179	78799315	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78799315G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1830C>T	10.37:g.78799315G>A						KCNMA1_uc001jxj.2_Silent_p.F610F|KCNMA1_uc001jxk.1_Silent_p.F225F|KCNMA1_uc009xrt.1_Silent_p.F430F|KCNMA1_uc001jxl.1_Silent_p.F264F|KCNMA1_uc001jxo.2_Silent_p.F610F|KCNMA1_uc001jxm.2_Silent_p.F610F|KCNMA1_uc001jxq.2_Silent_p.F610F	p.F610F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		15	2007	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		610			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.1830C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.858|9.858	1.195491|1.195491	0.22037|0.22037	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372403;ENST00000428546	.|.	.|.	.|.	5.72|5.72	2.75|2.75	0.32379|0.32379	.|.	.|.	.|.	.|.	.|.	T|T	0.56292|0.56292	0.1975|0.1975	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49808|0.49808	-0.8900|-0.8900	4|4	.|.	.|.	.|.	-20.0793|-20.0793	7.9762|7.9762	0.30155|0.30155	0.455:0.0:0.545:0.0|0.455:0.0:0.545:0.0	.|.	.|.	.|.	.|.	C|L	599;289;103|561;94	.|.	.|.	R|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78469321|78469321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.724000|1.724000	0.38064|0.38064	0.712000|0.712000	0.32039|0.32039	0.585000|0.585000	0.79938|0.79938	CGT|TCG		0.448	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247		17	26	0	0	0	0.028581	0	17	26		
BTAF1	9044	broad.mit.edu	37	10	93751913	93751913	+	Silent	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:93751913C>A	ENST00000265990.6	+	21	3200	c.2892C>A	c.(2890-2892)gtC>gtA	p.V964V		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	964					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V964V(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACCATACTGTCACCAAGCACA	0.398																																						uc001khr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2890-2892)GTC>GTA		BTAF1 RNA polymerase II, B-TFIID transcription							92.0	88.0	90.0					10																	93751913		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93751913C>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2892C>A	10.37:g.93751913C>A						BTAF1_uc001kht.1_Silent_p.V402V	p.V964V	NM_003972	NP_003963	O14981	BTAF1_HUMAN			21	2990	+		Colorectal(252;0.0846)	964					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.2892C>A	CCDS7419.1																																																																																				0.398	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		32	36	1	0	6.84511e-11	0.059317	7.53493e-11	32	36		
EIF4G2	1982	broad.mit.edu	37	11	10821251	10821251	+	Silent	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:10821251C>G	ENST00000526148.1	-	19	2682	c.2172G>C	c.(2170-2172)ctG>ctC	p.L724L	EIF4G2_ENST00000525681.1_Silent_p.L724L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L686L|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L724L	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.L724L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATAAGAAACTCAGTCCCTTTC	0.378																																						uc001mjc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2170-2172)CTG>CTC		eukaryotic translation initiation factor 4							130.0	126.0	127.0					11																	10821251		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821251C>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2172G>C	11.37:g.10821251C>G						EIF4G2_uc001mjb.2_Silent_p.L518L|EIF4G2_uc009ygf.2_Silent_p.L518L|EIF4G2_uc001mjd.2_Silent_p.L686L	p.L724L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2589	-			724			W2.			Silent	SNP	ENST00000526148.1	37	c.2172G>C	CCDS31428.1																																																																																				0.378	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		40	45	0	0	0	0.11126	0	40	45		
CYP2R1	120227	broad.mit.edu	37	11	14900872	14900872	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:14900872T>C	ENST00000334636.5	-	4	1164	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	CYP2R1_ENST00000532378.1_Missense_Mutation_p.N140S|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	373					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.N373S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TGGAACTATATTACAGAATCT	0.368																																					NSCLC(173;1584 2058 26117 29365 41534)	uc001mlr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1117-1119)AAT>AGT		cytochrome P450, family 2, subfamily R,	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						62.0	61.0	62.0					11																	14900872		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14900872T>C	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.1118A>G	11.37:g.14900872T>C	ENSP00000334592:p.Asn373Ser					CYP2R1_uc001mlo.2_Missense_Mutation_p.N140S|CYP2R1_uc001mlp.2_Missense_Mutation_p.N256S|CYP2R1_uc001mlq.2_Intron	p.N373S	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN			4	1118	-			373					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.1118A>G	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.301475	0.60195	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	T;T	0.78595	-1.19;-1.19	5.79	5.79	0.91817	.	0.041017	0.85682	D	0.000000	T	0.68970	0.3059	N	0.26042	0.785	0.80722	D	1	P;B	0.36789	0.57;0.358	B;B	0.38880	0.284;0.208	T	0.67288	-0.5708	9	.	.	.	.	16.1303	0.81428	0.0:0.0:0.0:1.0	.	373;140	Q6VVX0;E9PJT9	CP2R1_HUMAN;.	S	140;373	ENSP00000435484:N140S;ENSP00000334592:N373S	.	N	-	2	0	CYP2R1	14857448	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.960000	0.87893	2.216000	0.71823	0.377000	0.23210	AAT		0.368	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1		NM_024514		20	27	0	0	0	0.055883	0	20	27		
SLC1A2	6506	broad.mit.edu	37	11	35308446	35308446	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:35308446C>A	ENST00000278379.3	-	8	1426	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	SLC1A2_ENST00000395750.1_Missense_Mutation_p.D373Y|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D373Y|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D382Y|SLC1A2_ENST00000479543.1_5'Flank	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	382					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.D382Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			ACACGCTTATCAATCCCCAGA	0.458																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1144-1146)GAT>TAT		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						179.0	170.0	173.0					11																	35308446		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35308446C>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1144G>T	11.37:g.35308446C>A	ENSP00000278379:p.Asp382Tyr					SLC1A2_uc001mwe.2_Missense_Mutation_p.D373Y|SLC1A2_uc010rev.1_Missense_Mutation_p.D382Y	p.D382Y	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1736	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	382					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1144G>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.009218|5.009218	0.93346|0.93346	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.61274|.	0.12;0.12;0.12|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88123|0.88123	0.6352|0.6352	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.90831|0.90831	0.4716|0.4716	10|5	0.87932|.	D|.	0|.	-23.2177|-23.2177	20.024|20.024	0.97514|0.97514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	382;382|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	Y|F	382;373;373|99	ENSP00000278379:D382Y;ENSP00000379099:D373Y;ENSP00000379102:D373Y|.	ENSP00000278379:D382Y|.	D|L	-|-	1|3	0|2	SLC1A2|SLC1A2	35265022|35265022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	7.776000|7.776000	0.85560|0.85560	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|TTG		0.458	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1		NM_004171		65	88	1	0	3.30712e-30	0.048971	3.97975e-30	65	88		
COPS7A	50813	broad.mit.edu	37	12	6837406	6837406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:6837406C>G	ENST00000543155.1	+	4	738	c.256C>G	c.(256-258)Cct>Gct	p.P86A	COPS7A_ENST00000539735.1_Missense_Mutation_p.P86A|COPS7A_ENST00000538410.1_Missense_Mutation_p.P86A|COPS7A_ENST00000534877.1_Missense_Mutation_p.P86A|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000229251.3_Missense_Mutation_p.P86A|COPS7A_ENST00000534947.1_Missense_Mutation_p.P86A	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	86	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.P86A(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CCGGAATCTTCCTCCACTAAC	0.512																																						uc001qqj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(256-258)CCT>GCT		COP9 complex subunit 7a							89.0	77.0	81.0					12																	6837406		2203	4300	6503	SO:0001583	missense	50813				cullin deneddylation	cytoplasm|signalosome		g.chr12:6837406C>G	AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A"", ""COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"""				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.256C>G	12.37:g.6837406C>G	ENSP00000438115:p.Pro86Ala					COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Missense_Mutation_p.P86A|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Missense_Mutation_p.P86A|COPS7A_uc001qqi.2_Missense_Mutation_p.P86A|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Missense_Mutation_p.P86A|COPS7A_uc001qqo.2_Missense_Mutation_p.P86A	p.P86A	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN			4	495	+			86			PCI.		A8K9A6|Q9NVX3|Q9UJW4	Missense_Mutation	SNP	ENST00000543155.1	37	c.256C>G	CCDS8558.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775623	0.90195	.	.	ENSG00000111652	ENST00000543155;ENST00000442593;ENST00000229251;ENST00000539735;ENST00000538410;ENST00000544725;ENST00000534947;ENST00000541866;ENST00000534877;ENST00000538753	T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	6.07	6.07	0.98685	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.88105	2.93	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.986	T	0.64245	-0.6453	10	0.59425	D	0.04	-12.5759	20.6439	0.99570	0.0:1.0:0.0:0.0	.	86;86	F5H248;Q9UBW8	.;CSN7A_HUMAN	A	86	ENSP00000438115:P86A;ENSP00000229251:P86A;ENSP00000441852:P86A;ENSP00000439547:P86A;ENSP00000446039:P86A;ENSP00000442613:P86A;ENSP00000438363:P86A;ENSP00000440683:P86A	ENSP00000229251:P86A	P	+	1	0	COPS7A	6707667	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.937000	0.75898	2.884000	0.98904	0.655000	0.94253	CCT		0.512	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1				17	49	0	0	0	0.043863	0	17	49		
RIMKLB	57494	broad.mit.edu	37	12	8926379	8926379	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:8926379G>C	ENST00000538135.1	+	6	1985	c.1160G>C	c.(1159-1161)tGa>tCa	p.*387S	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000357529.3_Nonstop_Mutation_p.*387S|RIMKLB_ENST00000535829.1_Nonstop_Mutation_p.*387S|A2ML1-AS1_ENST00000537288.1_RNA			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	0					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.*387S(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGGTGGACTGACTCCACTGG	0.458																																						uc001quu.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)		0						c.(1159-1161)TGA>TCA		ribosomal modification protein rimK-like family							54.0	53.0	53.0					12																	8926379		1846	4083	5929	SO:0001578	stop_lost	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926379G>C	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1160G>C	12.37:g.8926379G>C	ENSP00000440943:p.*387Serext*4					RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Nonstop_Mutation_p.*387S|RIMKLB_uc010sgl.1_Nonstop_Mutation_p.*387S|RIMKLB_uc001quw.2_Intron	p.*387S	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			6	1411	+			387					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Nonstop_Mutation	SNP	ENST00000538135.1	37	c.1160G>C	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896165	0.33442	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8613	0.52467	0.0797:0.0:0.9203:0.0	.	.	.	.	S	387	.	.	X	+	2	2	RIMKLB	8817646	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.238000	0.78173	2.691000	0.91804	0.655000	0.94253	TGA		0.458	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1		NM_020734		53	58	0	0	0	0.048971	0	53	58		
MGP	4256	broad.mit.edu	37	12	15035937	15035937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:15035937G>A	ENST00000539261.1	-	3	273	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	MGP_ENST00000228938.5_Nonsense_Mutation_p.Q72*|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	47					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)	p.Q47*(1)		large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATCTCTGCTGAGGGGATATG	0.393																																						uc001rcn.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(139-141)CAG>TAG		matrix Gla protein precursor							154.0	128.0	137.0					12																	15035937		2203	4300	6503	SO:0001587	stop_gained	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15035937G>A	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.139C>T	12.37:g.15035937G>A	ENSP00000445907:p.Gln47*						p.Q47*	NM_000900	NP_000891	P08493	MGP_HUMAN			3	242	-			47					A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Nonsense_Mutation	SNP	ENST00000539261.1	37	c.139C>T	CCDS8669.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115190	0.56505	.	.	ENSG00000111341	ENST00000539261;ENST00000228938	.	.	.	5.48	5.48	0.80851	.	0.358254	0.29172	N	0.012936	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.426	14.7277	0.69357	0.0:0.0:1.0:0.0	.	.	.	.	X	47;72	.	ENSP00000228938:Q72X	Q	-	1	0	MGP	14927204	0.976000	0.34144	0.956000	0.39512	0.287000	0.27160	3.273000	0.51623	2.850000	0.98022	0.655000	0.94253	CAG		0.393	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1		NM_000900		24	31	0	0	0	0.050027	0	24	31		
ITGA7	3679	broad.mit.edu	37	12	56088080	56088080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:56088080G>A	ENST00000555728.1	-	19	2552	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*	ITGA7_ENST00000553804.1_Nonsense_Mutation_p.R802*|ITGA7_ENST00000257880.7_Nonsense_Mutation_p.R842*|ITGA7_ENST00000394229.2_Nonsense_Mutation_p.R798*|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.R705*|ITGA7_ENST00000394230.2_Nonsense_Mutation_p.R802*|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.R792*|ITGA7_ENST00000257879.6_Nonsense_Mutation_p.R798*			Q13683	ITA7_HUMAN	integrin, alpha 7	842					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.R798*(1)|p.R802*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACACGGGCTCGTGCAGAGACT	0.602																																						uc001shh.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2404-2406)CGA>TGA		integrin alpha 7 isoform 1 precursor							111.0	110.0	111.0					12																	56088080		2203	4300	6503	SO:0001587	stop_gained	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088080G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2524C>T	12.37:g.56088080G>A	ENSP00000452387:p.Arg842*					ITGA7_uc001shg.2_Nonsense_Mutation_p.R798*|ITGA7_uc010sps.1_Nonsense_Mutation_p.R705*|ITGA7_uc009znw.2_Nonsense_Mutation_p.R45*|ITGA7_uc009znx.2_Nonsense_Mutation_p.R679*	p.R802*	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			18	2624	-			842			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Nonsense_Mutation	SNP	ENST00000555728.1	37	c.2404C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.192045	0.78902	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	.	.	.	4.56	3.66	0.41972	.	0.641673	0.14308	N	0.327863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	8.4565	0.32901	0.1064:0.0:0.8936:0.0	.	.	.	.	X	802;798;792;705;842;802;798;671;842	.	ENSP00000257879:R798X	R	-	1	2	ITGA7	54374347	0.000000	0.05858	0.126000	0.21872	0.033000	0.12548	0.492000	0.22435	1.271000	0.44313	0.655000	0.94253	CGA		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1		NM_002206		118	77	0	0	0	0.048971	0	118	77		
TMTC2	160335	broad.mit.edu	37	12	83289890	83289890	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:83289890C>G	ENST00000321196.3	+	3	1655	c.948C>G	c.(946-948)ttC>ttG	p.F316L	TMTC2_ENST00000548305.1_Missense_Mutation_p.F316L|TMTC2_ENST00000549919.1_Missense_Mutation_p.F310L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	316					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.F316L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTGTGGCCTTCTATACTGGAC	0.458																																						uc001szt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(946-948)TTC>TTG		transmembrane and tetratricopeptide repeat							119.0	112.0	115.0					12																	83289890		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289890C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.948C>G	12.37:g.83289890C>G	ENSP00000322300:p.Phe316Leu					TMTC2_uc001szr.1_Missense_Mutation_p.F316L|TMTC2_uc001szs.1_Missense_Mutation_p.F316L|TMTC2_uc010suk.1_Missense_Mutation_p.F71L	p.F316L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			3	1380	+			316			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.948C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885953	0.72410	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.41400	1.0;1.0;1.0	5.99	5.99	0.97316	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.60455	1.87	0.54753	D	0.999987	D;B;P	0.52996	0.957;0.313;0.513	P;B;B	0.47376	0.545;0.174;0.395	T	0.21075	-1.0256	10	0.12103	T	0.63	-25.0817	14.6024	0.68450	0.0:0.931:0.0:0.069	.	316;71;316	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	L	316;316;310;71	ENSP00000322300:F316L;ENSP00000448292:F316L;ENSP00000447609:F310L	ENSP00000322300:F316L	F	+	3	2	TMTC2	81814021	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.424000	0.34848	2.840000	0.97914	0.655000	0.94253	TTC		0.458	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1		NM_152588		36	107	0	0	0	0.080422	0	36	107		
RPH3A	22895	broad.mit.edu	37	12	113304588	113304588	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:113304588G>C	ENST00000389385.4	+	7	884	c.387G>C	c.(385-387)gaG>gaC	p.E129D	RPH3A_ENST00000447659.2_Missense_Mutation_p.E80D|RPH3A_ENST00000551052.1_Missense_Mutation_p.E125D|RPH3A_ENST00000415485.3_Missense_Mutation_p.E129D|RPH3A_ENST00000543106.2_Missense_Mutation_p.E129D|RPH3A_ENST00000420983.2_Missense_Mutation_p.E129D|RPH3A_ENST00000548866.1_Missense_Mutation_p.E80D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	129	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.E125D(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCGGAGTGGAGACCAACAACC	0.562																																						uc010syl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(385-387)GAG>GAC		rabphilin 3A homolog isoform 1							132.0	97.0	108.0					12																	113304588		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113304588G>C	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.387G>C	12.37:g.113304588G>C	ENSP00000374036:p.Glu129Asp					RPH3A_uc001ttz.2_Missense_Mutation_p.E129D|RPH3A_uc001tty.2_Missense_Mutation_p.E125D|RPH3A_uc009zwe.1_Missense_Mutation_p.E125D|RPH3A_uc010sym.1_Missense_Mutation_p.E80D|RPH3A_uc001tua.2_5'Flank	p.E129D	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	7	749	+			129			RabBD.|FYVE-type.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.387G>C	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071902	0.36566	.	.	ENSG00000089169	ENST00000543106;ENST00000551593;ENST00000547728;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.69	3.79	0.43588	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.097447	0.43747	D	0.000529	T	0.61098	0.2320	N	0.05414	-0.055	0.41241	D	0.986647	P;B;B;B	0.44429	0.835;0.149;0.149;0.232	B;B;B;B	0.43889	0.435;0.06;0.06;0.128	T	0.60495	-0.7252	10	0.27785	T	0.31	.	11.9789	0.53109	0.0868:0.0:0.9132:0.0	.	80;129;129;125	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	D	129;129;129;129;80;62;125;129;129;80;129	ENSP00000440384:E129D;ENSP00000446780:E129D;ENSP00000449613:E129D;ENSP00000374036:E129D;ENSP00000413254:E80D;ENSP00000448100:E62D;ENSP00000448297:E125D;ENSP00000405357:E129D;ENSP00000450216:E129D;ENSP00000450347:E80D;ENSP00000408889:E129D	ENSP00000374036:E129D	E	+	3	2	RPH3A	111788971	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.318000	0.51975	1.093000	0.41377	0.563000	0.77884	GAG		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		NM_014954		3	16	0	0	0	0.004672	0	3	16		
RSRC2	65117	broad.mit.edu	37	12	122999747	122999747	+	Silent	SNP	C	C	T	rs142949567		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:122999747C>T	ENST00000331738.7	-	6	775	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RSRC2_ENST00000354654.2_Silent_p.P162P|RSRC2_ENST00000392442.2_5'Flank	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	210							poly(A) RNA binding (GO:0044822)	p.P210P(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TAAATCTTCTCGGCTTTTCAA	0.383																																						uc001ucr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(628-630)CCG>CCA		arginine/serine-rich coiled-coil 2 isoform a		C		0,4406		0,0,2203	208.0	202.0	204.0		630	0.1	1.0	12	dbSNP_134	204	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	RSRC2	NM_023012.5		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		210/435	122999747	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	65117							g.chr12:122999747C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.630G>A	12.37:g.122999747C>T						RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Silent_p.P151P|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Silent_p.P162P|RSRC2_uc001ucu.2_Silent_p.P210P	p.P210P	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	6	776	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		210					Q6N040|Q6NW16|Q9H864	Silent	SNP	ENST00000331738.7	37	c.630G>A	CCDS31920.1																																																																																				0.383	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3		NM_023012		4	105	0	0	0	0.009096	0	4	105		
SPACA7	122258	broad.mit.edu	37	13	113053427	113053427	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr13:113053427C>A	ENST00000283550.3	+	4	356	c.289C>A	c.(289-291)Cat>Aat	p.H97N	SPACA7_ENST00000375699.3_Missense_Mutation_p.H66N	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	97						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)		p.H97N(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TGAGAATTACCATGAATTATT	0.373																																						uc001vsd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(289-291)CAT>AAT		hypothetical protein LOC122258 precursor							86.0	89.0	88.0					13																	113053427		2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113053427C>A	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.289C>A	13.37:g.113053427C>A	ENSP00000283550:p.His97Asn						p.H97N	NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN			4	320	+	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)		97					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.289C>A	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296361	0.40594	.	.	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541;ENST00000375699	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	2.98	2.98	0.34508	.	.	.	.	.	T	0.55210	0.1906	L	0.29908	0.895	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.42032	-0.9475	9	0.87932	D	0	-9.6633	9.6778	0.40052	0.0:1.0:0.0:0.0	.	97	Q96KW9	SPAC7_HUMAN	N	97;85;83;66	ENSP00000283550:H97N;ENSP00000416096:H85N;ENSP00000406733:H83N;ENSP00000364851:H66N	ENSP00000283550:H97N	H	+	1	0	SPACA7	112101428	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.643000	0.24750	1.965000	0.57142	0.650000	0.86243	CAT		0.373	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2		NM_145248		17	32	1	0	3.41278e-10	0.0333	3.69935e-10	17	32		
CHD8	57680	broad.mit.edu	37	14	21868445	21868445	+	Missense_Mutation	SNP	C	C	T	rs192277407		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr14:21868445C>T	ENST00000557364.1	-	24	4855	c.4592G>A	c.(4591-4593)cGt>cAt	p.R1531H	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.R1252H|CHD8_ENST00000399982.2_Missense_Mutation_p.R1531H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1531					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.R1531H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGCGTCCACGAGGCACAGG	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20388	0.0		0.0	False		,,,				2504	0.0					uc001was.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(3754-3756)CGT>CAT		chromodomain helicase DNA binding protein 8							76.0	70.0	72.0					14																	21868445		1831	4094	5925	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21868445C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4592G>A	14.37:g.21868445C>T	ENSP00000451601:p.Arg1531His					CHD8_uc001war.1_Missense_Mutation_p.R1148H|SNORD8_uc001wau.1_5'Flank|CHD8_uc001wav.1_Missense_Mutation_p.R702H	p.R1252H	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	24	3849	-	all_cancers(95;0.00121)		1531					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3755G>A	CCDS53885.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.7	4.561493	0.86335	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.87103	-2.21;-2.21;-2.21	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.94231	0.8148	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.985;0.993	D	0.94529	0.7734	10	0.59425	D	0.04	-12.0236	17.6948	0.88278	0.0:1.0:0.0:0.0	.	1531;1252	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	H	1252;1531;1251;1531	ENSP00000406288:R1252H;ENSP00000382863:R1531H;ENSP00000451601:R1531H	ENSP00000262707:R1251H	R	-	2	0	CHD8	20938285	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.702000	0.92279	0.655000	0.94253	CGT		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920		13	24	0	0	0	0.020292	0	13	24		
VPS13C	54832	broad.mit.edu	37	15	62201309	62201309	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:62201309C>G	ENST00000261517.5	-	65	8933	c.8860G>C	c.(8860-8862)Gtg>Ctg	p.V2954L	VPS13C_ENST00000395898.3_Missense_Mutation_p.V2911L|VPS13C_ENST00000249837.3_Missense_Mutation_p.V2911L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V2954L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.V2954L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTACATCCACCAAGATACCC	0.353																																						uc002agz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(8860-8862)GTG>CTG		vacuolar protein sorting 13C protein isoform 2A							124.0	118.0	120.0					15																	62201309		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62201309C>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8860G>C	15.37:g.62201309C>G	ENSP00000261517:p.Val2954Leu					VPS13C_uc002aha.2_Missense_Mutation_p.V2911L|VPS13C_uc002ahb.1_Missense_Mutation_p.V2954L|VPS13C_uc002ahc.1_Missense_Mutation_p.V2911L|VPS13C_uc002ahd.1_Missense_Mutation_p.V331L	p.V2954L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			65	8934	-			2954						Missense_Mutation	SNP	ENST00000261517.5	37	c.8860G>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754892	0.89843	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.35973	1.28;1.28;1.28	6.03	6.03	0.97812	Vacuolar protein sorting-associated protein (1);	0.061358	0.64402	D	0.000005	T	0.64713	0.2623	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.993;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.991;0.979;0.991;0.994;0.992	T	0.64162	-0.6472	10	0.59425	D	0.04	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	2954;2911;2954;2911;2954	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	L	2911;2954;2954;2954	ENSP00000249837:V2911L;ENSP00000261517:V2954L;ENSP00000379233:V2954L	ENSP00000249837:V2911L	V	-	1	0	VPS13C	59988601	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.589000	0.67523	2.854000	0.98071	0.655000	0.94253	GTG		0.353	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		19	41	0	0	0	0.062417	0	19	41		
NEO1	4756	broad.mit.edu	37	15	73528817	73528817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:73528817C>G	ENST00000339362.5	+	9	1868	c.1421C>G	c.(1420-1422)tCt>tGt	p.S474C	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.S474C|NEO1_ENST00000261908.6_Missense_Mutation_p.S474C|NEO1_ENST00000558964.1_Missense_Mutation_p.S474C			Q92859	NEO1_HUMAN	neogenin 1	474	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S474Y(1)|p.S474C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTTACCTACTCTGTGTTCTAC	0.567																																						uc002avm.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	pancreas(1)	1						c.(1420-1422)TCT>TGT		neogenin homolog 1 precursor							181.0	149.0	160.0					15																	73528817		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528817C>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1421C>G	15.37:g.73528817C>G	ENSP00000341198:p.Ser474Cys					NEO1_uc010ukx.1_Missense_Mutation_p.S474C|NEO1_uc010uky.1_Missense_Mutation_p.S474C|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.S139C	p.S474C	NM_002499	NP_002490	Q92859	NEO1_HUMAN			8	1563	+			474			Extracellular (Potential).|Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1421C>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157612	0.78114	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.59083	0.29;0.29	6.05	6.05	0.98169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.107804	0.64402	D	0.000003	T	0.74291	0.3697	M	0.72118	2.19	0.80722	D	1	D;D;P;D	0.71674	0.998;0.992;0.901;0.996	D;D;D;D	0.70716	0.97;0.953;0.953;0.953	T	0.74352	-0.3693	10	0.54805	T	0.06	-20.2471	15.3331	0.74229	0.1397:0.8603:0.0:0.0	.	474;474;212;474	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	C	474;212;474	ENSP00000341198:S474C;ENSP00000261908:S474C	ENSP00000261908:S474C	S	+	2	0	NEO1	71315870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.612000	0.67681	2.878000	0.98634	0.650000	0.86243	TCT		0.567	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2		NM_002499		33	55	0	0	0	0.080422	0	33	55		
SNX33	257364	broad.mit.edu	37	15	75942367	75942367	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:75942367G>C	ENST00000308527.5	+	1	2121	c.924G>C	c.(922-924)cgG>cgC	p.R308R	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	308	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.R308R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AGCGGAAGCGGAGACTCATCC	0.582																																						uc002bau.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(922-924)CGG>CGC		sorting nexin 33							100.0	103.0	102.0					15																	75942367		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942367G>C	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.924G>C	15.37:g.75942367G>C						IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	p.R308R	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN			1	1020	+			308			PX.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.924G>C	CCDS10283.1																																																																																				0.582	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1		NM_153271		37	72	0	0	0	0.080422	0	37	72		
CLEC16A	23274	broad.mit.edu	37	16	11114144	11114144	+	Silent	SNP	C	C	T	rs201072027		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:11114144C>T	ENST00000409790.1	+	12	1628	c.1398C>T	c.(1396-1398)agC>agT	p.S466S	CLEC16A_ENST00000409552.3_Silent_p.S448S	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.S466S(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGAGAAAAGCGCCGCCGCCA	0.617																																						uc002dao.2		NaN																	2	Whole gene deletion(1)|Substitution - coding silent(1)	p.0?(1)	urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	ovary(1)|central_nervous_system(1)	2						c.(1396-1398)AGC>AGT		C-type lectin domain family 16, member A							24.0	29.0	27.0					16																	11114144		1992	4171	6163	SO:0001819	synonymous_variant	23274							g.chr16:11114144C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1398C>T	16.37:g.11114144C>T						CLEC16A_uc002dan.3_Silent_p.S448S	p.S466S	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			12	1628	+			466						Silent	SNP	ENST00000409790.1	37	c.1398C>T	CCDS45409.1																																																																																				0.617	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2		NM_015226		4	16	0	0	0	0.009096	0	4	16		
C16orf87	388272	broad.mit.edu	37	16	46836943	46836943	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:46836943G>C	ENST00000285697.4	-	4	647	c.386C>G	c.(385-387)tCt>tGt	p.S129C	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Missense_Mutation_p.S68C	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	129								p.S129C(1)		large_intestine(4)|urinary_tract(1)	5						CTTTTCATCAGACAGGTTAGC	0.313																																						uc002eek.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(385-387)TCT>TGT		hypothetical protein LOC388272							72.0	68.0	69.0					16																	46836943		2201	4300	6501	SO:0001583	missense	388272							g.chr16:46836943G>C		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.386C>G	16.37:g.46836943G>C	ENSP00000285697:p.Ser129Cys						p.S129C	NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN			4	399	-			129			Potential.		Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	c.386C>G	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567105	0.86439	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.69877	-0.5026	9	0.72032	D	0.01	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	129	Q6PH81	CP087_HUMAN	C	129;68	.	ENSP00000285697:S129C	S	-	2	0	C16orf87	45394444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.164000	0.94755	2.693000	0.91896	0.650000	0.86243	TCT		0.313	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2		NM_001001436		16	23	0	0	0	0.024245	0	16	23		
ABCC11	85320	broad.mit.edu	37	16	48250187	48250187	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:48250187G>C	ENST00000394747.1	-	6	1138	c.789C>G	c.(787-789)ttC>ttG	p.F263L	ABCC11_ENST00000353782.5_Missense_Mutation_p.F263L|ABCC11_ENST00000356608.2_Missense_Mutation_p.F263L|ABCC11_ENST00000394748.1_Missense_Mutation_p.F263L|ABCC11_ENST00000537808.1_Missense_Mutation_p.F263L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	263	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.F263L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACCGGTGAAGAAGCTGATGG	0.552																																						uc002eff.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(787-789)TTC>TTG		ATP-binding cassette, sub-family C, member 11							155.0	137.0	143.0					16																	48250187		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48250187G>C	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.789C>G	16.37:g.48250187G>C	ENSP00000378230:p.Phe263Leu					ABCC11_uc002efg.1_Missense_Mutation_p.F263L|ABCC11_uc002efh.1_Missense_Mutation_p.F263L|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.F263L	p.F263L	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			6	1139	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	263			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.789C>G	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	4.784	0.145729	0.09134	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	4.89	3.69	0.42338	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.134693	0.49916	D	0.000123	D	0.83640	0.5298	L	0.31157	0.91	0.29334	N	0.866456	D;B	0.60160	0.987;0.012	P;B	0.56612	0.802;0.008	T	0.76008	-0.3116	10	0.02654	T	1	-27.0263	6.1258	0.20177	0.1695:0.0:0.8305:0.0	.	263;263	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	263	ENSP00000311326:F263L;ENSP00000349017:F263L;ENSP00000378231:F263L;ENSP00000378230:F263L;ENSP00000438530:F263L	ENSP00000311326:F263L	F	-	3	2	ABCC11	46807688	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	1.433000	0.34947	2.423000	0.82170	0.655000	0.94253	TTC		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1		NM_032583		49	50	0	0	0	0.048971	0	49	50		
RPGRIP1L	23322	broad.mit.edu	37	16	53721797	53721797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:53721797C>G	ENST00000379925.3	-	5	660	c.610G>C	c.(610-612)Gcc>Ccc	p.A204P	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A204P|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A204P|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.A204P	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	204					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.A204P(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTCCTCTGGCTTCTTCAAGT	0.303																																						uc002ehp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(610-612)GCC>CCC		RPGRIP1-like isoform a							134.0	144.0	141.0					16																	53721797		2198	4298	6496	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53721797C>G		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.610G>C	16.37:g.53721797C>G	ENSP00000369257:p.Ala204Pro					RPGRIP1L_uc002eho.3_Missense_Mutation_p.A204P|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.A204P|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.A204P|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.A204P|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.A204P	p.A204P	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			5	674	-		all_cancers(37;0.0973)	204			Potential.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.610G>C	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539789	0.85917	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.78816	-0.11;-1.21	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.987;0.927;1.0	D;P;P;D	0.97110	0.999;0.886;0.703;1.0	D	0.87510	0.2439	10	0.52906	T	0.07	-8.989	18.2642	0.90046	0.0:1.0:0.0:0.0	.	204;204;204;204	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	P	204	ENSP00000369257:A204P;ENSP00000262135:A204P	ENSP00000262135:A204P	A	-	1	0	RPGRIP1L	52279298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.334000	0.52097	2.691000	0.91804	0.650000	0.86243	GCC		0.303	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1		NM_015272		40	84	0	0	0	0.048971	0	40	84		
NOB1	28987	broad.mit.edu	37	16	69776441	69776441	+	Missense_Mutation	SNP	G	G	A	rs367776601		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:69776441G>A	ENST00000268802.5	-	9	1062	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	345					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R345C(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGAGGGAAGCGCTGATCCTCG	0.552																																						uc002exs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1033-1035)CGC>TGC		nin one binding protein							67.0	71.0	70.0					16																	69776441		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69776441G>A	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1033C>T	16.37:g.69776441G>A	ENSP00000268802:p.Arg345Cys						p.R345C	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			9	1049	-			345					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.1033C>T	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373434	0.82573	.	.	ENSG00000141101	ENST00000268802	T	0.32753	1.44	4.59	4.59	0.56863	.	1.150060	0.06299	N	0.700526	T	0.28665	0.0710	L	0.34521	1.04	0.80722	D	1	B	0.28667	0.219	B	0.17722	0.019	T	0.07578	-1.0765	9	.	.	.	.	17.9577	0.89074	0.0:0.0:1.0:0.0	.	345	Q9ULX3	NOB1_HUMAN	C	345	ENSP00000268802:R345C	.	R	-	1	0	NOB1	68333942	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.945000	0.70226	2.523000	0.85059	0.655000	0.94253	CGC		0.552	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2		NM_014062		33	37	0	0	0	0.069456	0	33	37		
FANCA	2175	broad.mit.edu	37	16	89869700	89869700	+	Silent	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:89869700C>G	ENST00000389301.3	-	8	789	c.759G>C	c.(757-759)ctG>ctC	p.L253L	FANCA_ENST00000543736.1_Silent_p.L221L|FANCA_ENST00000534992.1_Silent_p.L253L|FANCA_ENST00000563673.1_Silent_p.L253L|FANCA_ENST00000568369.1_Silent_p.L253L|FANCA_ENST00000389302.3_Silent_p.L253L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	253					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L253L(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAGTTCTTCTCAGATCTGAGT	0.393			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(757-759)CTG>CTC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							131.0	131.0	131.0					16																	89869700		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89869700C>G	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.759G>C	16.37:g.89869700C>G						FANCA_uc010vpn.1_Silent_p.L253L|FANCA_uc002fov.1_Silent_p.L236L|FANCA_uc002fow.1_Silent_p.L253L|FANCA_uc002fox.1_Silent_p.L253L|FANCA_uc010ciu.1_Silent_p.L221L|FANCA_uc002foy.2_Silent_p.L253L	p.L253L	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	8	801	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	253					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.759G>C	CCDS32515.1																																																																																				0.393	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				52	60	0	0	0	0.048971	0	52	60		
CLUH	23277	broad.mit.edu	37	17	2598209	2598209	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:2598209C>T	ENST00000570628.2	-	16	2782	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	CLUH_ENST00000435359.1_Missense_Mutation_p.E893K|CLUH_ENST00000538975.1_Missense_Mutation_p.E893K			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	893					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.E894K(2)									TTCCAGAGCTCCTGGGGGGTC	0.632																																						uc002fuy.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(2)	2						c.(2677-2679)GAG>AAG		hypothetical protein LOC23277							18.0	22.0	21.0					17																	2598209		1874	4096	5970	SO:0001583	missense	23277						binding	g.chr17:2598209C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2677G>A	17.37:g.2598209C>T	ENSP00000458986:p.Glu893Lys					KIAA0664_uc002fux.1_Missense_Mutation_p.E826K|KIAA0664_uc010ckc.1_5'UTR	p.E893K	NM_015229	NP_056044	O75153	K0664_HUMAN			16	2763	-			893					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.2677G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	c	16.18	3.050134	0.55218	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80304	-1.36;-1.36	5.48	5.48	0.80851	.	0.053459	0.85682	D	0.000000	T	0.78104	0.4231	L	0.41632	1.29	0.54753	D	0.999987	B;B	0.30526	0.283;0.146	B;B	0.39465	0.3;0.065	T	0.72087	-0.4396	10	0.14656	T	0.56	.	18.3323	0.90274	0.0:1.0:0.0:0.0	.	893;894	O75153;C9J6D7	K0664_HUMAN;.	K	893;894;893	ENSP00000388872:E893K;ENSP00000439628:E893K	ENSP00000320468:E894K	E	-	1	0	KIAA0664	2544959	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.485000	0.81204	2.580000	0.87095	0.556000	0.70494	GAG		0.632	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229		7	0	0	0	0	0.02938	0	7	0		
MYH2	4620	broad.mit.edu	37	17	10430322	10430322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:10430322G>C	ENST00000245503.5	-	29	4307	c.3923C>G	c.(3922-3924)tCa>tGa	p.S1308*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.S1308*|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1308					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S1308*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGCCTCTTGATAACTGAGA	0.373																																						uc010coi.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3922-3924)TCA>TGA		myosin heavy chain IIa							90.0	87.0	88.0					17																	10430322		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430322G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3923C>G	17.37:g.10430322G>C	ENSP00000245503:p.Ser1308*					uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.S1308*|MYH2_uc010coj.2_Intron	p.S1308*	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			29	4051	-			1308			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.3923C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	45	12.050207	0.99631	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	4.93	4.93	0.64822	.	0.000000	0.33610	U	0.004735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.3161	0.90221	0.0:0.0:1.0:0.0	.	.	.	.	X	1308	.	ENSP00000245503:S1308X	S	-	2	0	MYH2	10371047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.800000	0.85949	2.538000	0.85594	0.563000	0.77884	TCA		0.373	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534		25	3	0	0	0	0.099896	0	25	3		
MYO15A	51168	broad.mit.edu	37	17	18082089	18082089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:18082089G>T	ENST00000205890.5	+	66	10836	c.10498G>T	c.(10498-10500)Gaa>Taa	p.E3500*	RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000451725.2_3'UTR|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Missense_Mutation_p.G781V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3500	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E3500*(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCAGGGACTGGAACTGTGTCG	0.592																																						uc010vxh.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(10498-10500)GAA>TAA		myosin XV							128.0	141.0	137.0					17																	18082089		2161	4259	6420	SO:0001587	stop_gained	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18082089G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10498G>T	17.37:g.18082089G>T	ENSP00000205890:p.Glu3500*					uc002gsn.2_Intron|MYO15A_uc010vxi.1_Missense_Mutation_p.G781V|MYO15A_uc002gsl.2_Missense_Mutation_p.G532V|MYO15A_uc010vxm.1_3'UTR|MYO15A_uc010cpv.2_RNA	p.E3500*	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			65	10836	+	all_neural(463;0.228)		3500			Tail.|FERM.		B4DFC7	Nonsense_Mutation	SNP	ENST00000205890.5	37	c.10498G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	52	19.734113	0.99923	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.1853	0.93641	0.0:0.0:1.0:0.0	.	.	.	.	X	3500	.	ENSP00000205890:E3500X	E	+	1	0	MYO15A	18022814	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	9.582000	0.98214	2.637000	0.89404	0.555000	0.69702	GAA		0.592	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239		19	6	1	0	1.85244e-09	0.083992	1.99278e-09	19	6		
KIAA0100	9703	broad.mit.edu	37	17	26943411	26943411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:26943411G>A	ENST00000528896.2	-	36	6348	c.6274C>T	c.(6274-6276)Cgc>Tgc	p.R2092C	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000301037.5_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1949C|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1949C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2092						extracellular region (GO:0005576)		p.R2092C(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGCGATTTGCGAAATGACCTT	0.527																																						uc002hbu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|skin(1)	4						c.(6274-6276)CGC>TGC		hypothetical protein LOC9703 precursor							83.0	82.0	82.0					17																	26943411		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26943411G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6274C>T	17.37:g.26943411G>A	ENSP00000436773:p.Arg2092Cys					SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Missense_Mutation_p.R421C	p.R2092C	NM_014680	NP_055495	Q14667	K0100_HUMAN			36	6373	-	Lung NSC(42;0.00431)		2092					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6274C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472118	0.63737	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.45276	0.9;0.9	6.11	6.11	0.99139	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58875	-0.7559	10	0.56958	D	0.05	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	2092	Q14667	K0100_HUMAN	C	2092;2062;2092;1949	ENSP00000436773:R2092C;ENSP00000446443:R1949C	ENSP00000005905:R2092C	R	-	1	0	KIAA0100	23967538	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.729000	0.62008	2.906000	0.99361	0.655000	0.94253	CGC		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		35	108	0	0	0	0.074837	0	35	108		
NF1	4763	broad.mit.edu	37	17	29657369	29657369	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:29657369G>A	ENST00000358273.4	+	39	6048	c.5665G>A	c.(5665-5667)Gag>Aag	p.E1889K	NF1_ENST00000356175.3_Missense_Mutation_p.E1868K|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1889					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E1889K(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTAAAAATCGAGGGCCAGTT	0.393			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|urinary_tract(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(5665-5667)GAG>AAG		neurofibromin isoform 1							103.0	98.0	100.0					17																	29657369		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29657369G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5665G>A	17.37:g.29657369G>A	ENSP00000351015:p.Glu1889Lys	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.E1868K|NF1_uc002hgi.1_Missense_Mutation_p.E901K|NF1_uc010cso.2_Missense_Mutation_p.E77K	p.E1889K	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	39	5998	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1889					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5665G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985396	0.93044	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;T;D	0.96651	-4.08;-0.21;-4.08	5.6	5.6	0.85130	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	M	0.71581	2.175	0.80722	D	1	P;D;D	0.69078	0.948;0.995;0.997	B;D;D	0.70716	0.367;0.97;0.957	D	0.96517	0.9383	10	0.22706	T	0.39	.	18.6083	0.91275	0.0:0.0:1.0:0.0	.	918;1868;1889	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	K	1889;1868;1534	ENSP00000351015:E1889K;ENSP00000348498:E1868K;ENSP00000389907:E1534K	ENSP00000348498:E1868K	E	+	1	0	NF1	26681495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.627000	0.88993	0.650000	0.86243	GAG		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		38	75	0	0	0	0.09836	0	38	75		
ADAM11	4185	broad.mit.edu	37	17	42855099	42855099	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:42855099G>C	ENST00000200557.6	+	23	2107	c.1938G>C	c.(1936-1938)ctG>ctC	p.L646L	ADAM11_ENST00000535346.1_Silent_p.L446L	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	646	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L646L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCTCTGACCTGAGCTATGTGG	0.642																																						uc002ihh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(1)	1						c.(1936-1938)CTG>CTC		ADAM metallopeptidase domain 11 preproprotein							49.0	49.0	49.0					17																	42855099		2203	4300	6503	SO:0001819	synonymous_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855099G>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1938G>C	17.37:g.42855099G>C						ADAM11_uc010wjd.1_Silent_p.L446L|ADAM11_uc002ihi.2_5'UTR	p.L646L	NM_002390	NP_002381	O75078	ADA11_HUMAN			23	1938	+		Prostate(33;0.0959)	646			Cys-rich.|Extracellular (Potential).		Q14808|Q14809|Q14810	Silent	SNP	ENST00000200557.6	37	c.1938G>C	CCDS11486.1																																																																																				0.642	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1		NM_002390		31	22	0	0	0	0.059317	0	31	22		
GNGT2	2793	broad.mit.edu	37	17	47284179	47284179	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:47284179G>C	ENST00000511277.1	-	4	329	c.150C>G	c.(148-150)ctC>ctG	p.L50L	GNGT2_ENST00000515635.1_Silent_p.L50L|GNGT2_ENST00000300406.2_Silent_p.L50L|GNGT2_ENST00000503070.1_Silent_p.L50L|GNGT2_ENST00000507680.1_Silent_p.L50L|GNGT2_ENST00000511673.1_Silent_p.L50L	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	50					G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.L50L(1)		endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGATGCCTTTGAGAAAAGGAT	0.493																																						uc002ioo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(148-150)CTC>CTG		guanine nucleotide binding protein-gamma							172.0	149.0	157.0					17																	47284179		2203	4300	6503	SO:0001819	synonymous_variant	2793				G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr17:47284179G>C		CCDS11545.1	17q21	2003-12-17				ENSG00000167083			4412	protein-coding gene	gene with protein product		139391				9286705	Standard	NM_031498		Approved	GNG9	uc021tzq.1	O14610		ENST00000511277.1:c.150C>G	17.37:g.47284179G>C							p.L50L	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		4	457	-			50					B2R746|D3DTW5	Silent	SNP	ENST00000511277.1	37	c.150C>G	CCDS11545.1																																																																																				0.493	GNGT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364482.1		NM_031498		60	44	0	0	0	0.048971	0	60	44		
TOB1	10140	broad.mit.edu	37	17	48940623	48940623	+	Silent	SNP	T	T	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:48940623T>C	ENST00000268957.3	-	3	1184	c.756A>G	c.(754-756)ccA>ccG	p.P252P	TOB1_ENST00000499247.2_Silent_p.P252P|TOB1_ENST00000509385.1_5'Flank	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	252	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.P252P(2)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			gtggtggtggtggcggtggcg	0.522																																					NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	large_intestine(1)	1						c.(754-756)CCA>CCG		transducer of ERBB2, 1							30.0	32.0	31.0					17																	48940623		2203	4300	6503	SO:0001819	synonymous_variant	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940623T>C	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.756A>G	17.37:g.48940623T>C						TOB1_uc010wmy.1_Silent_p.P252P|TOB1_uc010wmz.1_Silent_p.P252P	p.P252P	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	791	-			252			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	Silent	SNP	ENST00000268957.3	37	c.756A>G	CCDS11576.1																																																																																				0.522	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1				3	34	0	0	0	0.004672	0	3	34		
ABCA10	10349	broad.mit.edu	37	17	67148283	67148283	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:67148283C>G	ENST00000269081.4	-	37	5207	c.4298G>C	c.(4297-4299)aGa>aCa	p.R1433T	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1433	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1433T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAAATAATCTCTACCAAACTT	0.388																																						uc010dfa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4297-4299)AGA>ACA		ATP-binding cassette, sub-family A, member 10							79.0	81.0	80.0					17																	67148283		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67148283C>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4298G>C	17.37:g.67148283C>G	ENSP00000269081:p.Arg1433Thr					ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.R425T|ABCA10_uc010wqt.1_RNA	p.R1433T	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			37	5177	-	Breast(10;6.95e-12)		1433			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4298G>C	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	c	9.969	1.225061	0.22457	.	.	ENSG00000154263	ENST00000269081	D	0.90676	-2.71	3.18	2.08	0.27032	ABC transporter-like (1);	0.463445	0.15431	U	0.262692	T	0.76877	0.4049	N	0.04245	-0.25	0.80722	D	1	B;B	0.23591	0.03;0.088	B;B	0.23275	0.045;0.039	T	0.67806	-0.5575	10	0.56958	D	0.05	.	5.982	0.19413	0.0:0.3095:0.0:0.6905	.	425;1433	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	T	1433	ENSP00000269081:R1433T	ENSP00000269081:R1433T	R	-	2	0	ABCA10	64659878	0.577000	0.26708	0.177000	0.23020	0.763000	0.43281	1.077000	0.30741	0.399000	0.25367	-0.404000	0.06349	AGA		0.388	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		19	36	0	0	0	0.049695	0	19	36		
EIF4A3	9775	broad.mit.edu	37	17	78120641	78120641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:78120641G>C	ENST00000269349.3	-	1	341	c.120C>G	c.(118-120)ttC>ttG	p.F40L		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	40					ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.F40L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CCATGGTGTCGAACGTGGGGG	0.687																																						uc010wuc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(118-120)TTC>TTG		eukaryotic translation initiation factor 4A,							45.0	40.0	42.0					17																	78120641		2202	4299	6501	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78120641G>C	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.120C>G	17.37:g.78120641G>C	ENSP00000269349:p.Phe40Leu					EIF4A3_uc002jxs.2_Missense_Mutation_p.F40L	p.F40L	NM_014740	NP_055555	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		2	193	-	all_neural(118;0.117)		40			Q motif.		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.120C>G	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.269854	0.80469	.	.	ENSG00000141543	ENST00000269349	T	0.41758	0.99	5.0	1.81	0.25067	RNA helicase, DEAD-box type, Q motif (1);	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64960	-0.6284	10	0.87932	D	0	.	4.7911	0.13248	0.2674:0.1592:0.5734:0.0	.	40	P38919	IF4A3_HUMAN	L	40	ENSP00000269349:F40L	ENSP00000269349:F40L	F	-	3	2	EIF4A3	75735236	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.766000	0.38491	0.491000	0.27793	-0.305000	0.09177	TTC		0.687	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1		NM_014740		12	45	0	0	0	0.09319	0	12	45		
LAMA3	3909	broad.mit.edu	37	18	21357556	21357556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:21357556G>C	ENST00000313654.9	+	11	1682	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.E481Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	481	Domain V.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E481Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCAAGTTCAGAAGATCCAGT	0.343																																						uc002kuq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1441-1443)GAA>CAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						109.0	101.0	104.0					18																	21357556		1829	4075	5904	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21357556G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1441G>C	18.37:g.21357556G>C	ENSP00000324532:p.Glu481Gln					LAMA3_uc010dlv.1_Missense_Mutation_p.E481Q|LAMA3_uc002kur.2_Missense_Mutation_p.E481Q	p.E481Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			11	1527	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		481			Domain V.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1441G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905892	0.33628	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.18657	2.22;2.2	5.51	5.51	0.81932	.	.	.	.	.	T	0.11281	0.0275	N	0.13198	0.31	0.80722	D	1	P;B;B	0.38767	0.646;0.363;0.309	B;B;B	0.29716	0.106;0.059;0.08	T	0.20806	-1.0264	9	0.13470	T	0.59	.	16.6831	0.85298	0.0:0.0:1.0:0.0	.	481;481;481	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	Q	481;481;479;481	ENSP00000324532:E481Q;ENSP00000382432:E481Q	ENSP00000324532:E481Q	E	+	1	0	LAMA3	19611554	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.928000	0.40104	2.747000	0.94245	0.650000	0.86243	GAA		0.343	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		32	64	0	0	0	0.064281	0	32	64		
DCC	1630	broad.mit.edu	37	18	50923757	50923757	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:50923757C>A	ENST00000442544.2	+	18	3384	c.2768C>A	c.(2767-2769)aCa>aAa	p.T923K	DCC_ENST00000412726.1_Missense_Mutation_p.T751K|DCC_ENST00000581580.1_Missense_Mutation_p.T558K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	923	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.T923K(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTCATGGTAACAAAAAACAGA	0.423																																						uc002lfe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2767-2769)ACA>AAA		netrin receptor DCC precursor							122.0	105.0	111.0					18																	50923757		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50923757C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2768C>A	18.37:g.50923757C>A	ENSP00000389140:p.Thr923Lys					DCC_uc010xdr.1_Missense_Mutation_p.T751K|DCC_uc010dpf.1_Missense_Mutation_p.T558K	p.T923K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	18	3355	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	923			Extracellular (Potential).|Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2768C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948596	0.53186	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.56776	0.44;0.44	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.80028	2.48	0.58432	D	0.999995	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.70227	0.892;0.892;0.968	T	0.66995	-0.5782	10	0.13108	T	0.6	.	18.8301	0.92135	0.0:1.0:0.0:0.0	.	751;751;923	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	923;751	ENSP00000389140:T923K;ENSP00000397322:T751K	ENSP00000397322:T751K	T	+	2	0	DCC	49177755	1.000000	0.71417	0.488000	0.27440	0.895000	0.52256	7.722000	0.84778	2.741000	0.93983	0.650000	0.86243	ACA		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		4	68	1	0	0.00909568	0.009096	0.00935932	4	68		
DCC	1630	broad.mit.edu	37	18	50985745	50985745	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:50985745C>A	ENST00000442544.2	+	24	4152	c.3536C>A	c.(3535-3537)cCc>cAc	p.P1179H	DCC_ENST00000581580.1_Missense_Mutation_p.P814H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1179					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P1179H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGACTCTCCCATCCAAAGT	0.478																																						uc002lfe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3535-3537)CCC>CAC		netrin receptor DCC precursor							141.0	138.0	139.0					18																	50985745		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50985745C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3536C>A	18.37:g.50985745C>A	ENSP00000389140:p.Pro1179His					DCC_uc010dpf.1_Missense_Mutation_p.P814H	p.P1179H	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	24	4123	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1179			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3536C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430227	0.43122	.	.	ENSG00000187323	ENST00000442544	T	0.76448	-1.02	5.93	5.93	0.95920	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.87720	0.2572	10	0.72032	D	0.01	-8.3349	19.1254	0.93380	0.0:1.0:0.0:0.0	.	1179	P43146	DCC_HUMAN	H	1179	ENSP00000389140:P1179H	ENSP00000389140:P1179H	P	+	2	0	DCC	49239743	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.372000	0.79612	2.826000	0.97356	0.655000	0.94253	CCC		0.478	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		55	64	1	0	2.40265e-35	0.048971	2.91604e-35	55	64		
ZNF532	55205	broad.mit.edu	37	18	56587489	56587489	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:56587489A>C	ENST00000336078.4	+	4	2746	c.1970A>C	c.(1969-1971)aAc>aCc	p.N657T	ZNF532_ENST00000591230.1_Missense_Mutation_p.N657T|ZNF532_ENST00000591083.1_Missense_Mutation_p.N657T|ZNF532_ENST00000591808.1_Missense_Mutation_p.N657T|ZNF532_ENST00000589288.1_Missense_Mutation_p.N657T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N657T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTTTTTTACAACAAATGCAGC	0.478																																						uc002lho.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|skin(1)	2						c.(1969-1971)AAC>ACC		zinc finger protein 532							75.0	64.0	68.0					18																	56587489		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587489A>C	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1970A>C	18.37:g.56587489A>C	ENSP00000338217:p.Asn657Thr					ZNF532_uc002lhp.2_Missense_Mutation_p.N655T|ZNF532_uc010xeg.1_Missense_Mutation_p.N655T|ZNF532_uc002lhr.2_Missense_Mutation_p.N655T|ZNF532_uc002lhs.2_Missense_Mutation_p.N655T	p.N657T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	2517	+			657					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1970A>C	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	19.13	3.767449	0.69878	.	.	ENSG00000074657	ENST00000336078	T	0.39787	1.06	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57171	-0.7857	10	0.62326	D	0.03	-17.1294	15.2409	0.73468	1.0:0.0:0.0:0.0	.	657	Q9HCE3	ZN532_HUMAN	T	657	ENSP00000338217:N657T	ENSP00000338217:N657T	N	+	2	0	ZNF532	54738469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.168000	0.94781	2.080000	0.62538	0.445000	0.29226	AAC		0.478	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1		NM_018181		3	60	0	0	0	0.004672	0	3	60		
NOTCH3	4854	broad.mit.edu	37	19	15276879	15276879	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:15276879C>A	ENST00000263388.2	-	30	5461	c.5386G>T	c.(5386-5388)Gct>Tct	p.A1796S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1796					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A1796S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGAAGGAAGCCAGCATTAGC	0.552																																						uc002nan.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(5386-5388)GCT>TCT		Notch homolog 3 precursor							53.0	53.0	53.0					19																	15276879		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276879C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5386G>T	19.37:g.15276879C>A	ENSP00000263388:p.Ala1796Ser						p.A1796S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5462	-			1796			Cytoplasmic (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5386G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035560	0.93630	.	.	ENSG00000074181	ENST00000263388	T	0.71341	-0.56	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.32190	N	0.006458	D	0.85383	0.5684	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87287	0.2296	10	0.87932	D	0	.	17.6214	0.88083	0.0:1.0:0.0:0.0	.	1796	Q9UM47	NOTC3_HUMAN	S	1796	ENSP00000263388:A1796S	ENSP00000263388:A1796S	A	-	1	0	NOTCH3	15137879	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.545000	0.82128	2.688000	0.91661	0.655000	0.94253	GCT		0.552	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1		NM_000435		16	23	1	0	3.45872e-05	0.028581	3.66521e-05	16	23		
ANKRD27	84079	broad.mit.edu	37	19	33117659	33117659	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:33117659G>T	ENST00000306065.4	-	16	1653	c.1495C>A	c.(1495-1497)Ccg>Acg	p.P499T		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	499					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.P499T(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGGTGGAGCGGAGTGGCTCCA	0.607																																						uc002ntn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1495-1497)CCG>ACG		ankyrin repeat domain 27 (VPS9 domain)							93.0	72.0	79.0					19																	33117659		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33117659G>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1495C>A	19.37:g.33117659G>T	ENSP00000304292:p.Pro499Thr						p.P499T	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			16	1651	-	Esophageal squamous(110;0.137)		499			ANK 3.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1495C>A	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489725	0.64074	.	.	ENSG00000105186	ENST00000306065	T	0.71934	-0.61	5.39	5.39	0.77823	Ankyrin repeat-containing domain (4);	0.115873	0.38897	N	0.001521	D	0.87657	0.6232	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89826	0.3992	10	0.72032	D	0.01	-25.0948	19.1241	0.93375	0.0:0.0:1.0:0.0	.	499	Q96NW4	ANR27_HUMAN	T	499	ENSP00000304292:P499T	ENSP00000304292:P499T	P	-	1	0	ANKRD27	37809499	1.000000	0.71417	0.030000	0.17652	0.240000	0.25518	6.958000	0.76025	2.520000	0.84964	0.536000	0.68110	CCG		0.607	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139		5	2	1	0	1.6384e-10	0.02938	1.78964e-10	5	2		
KIAA0355	9710	broad.mit.edu	37	19	34791438	34791438	+	Silent	SNP	C	C	T	rs558834376	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:34791438C>T	ENST00000299505.6	+	2	933	c.60C>T	c.(58-60)ggC>ggT	p.G20G		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	20								p.G20G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCTGCTTGGCGGGTCCAAGC	0.622													C|||	3	0.000599042	0.0	0.0	5008	,	,		18118	0.0		0.0	False		,,,				2504	0.0031					uc002nvd.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(58-60)GGC>GGT		hypothetical protein LOC9710							39.0	35.0	36.0					19																	34791438		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34791438C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.60C>T	19.37:g.34791438C>T						KIAA0355_uc010edk.1_Silent_p.G10G	p.G20G	NM_014686	NP_055501	O15063	K0355_HUMAN			2	919	+	Esophageal squamous(110;0.162)		20					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.60C>T	CCDS12436.1																																																																																				0.622	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686		3	43	0	0	0	0.004672	0	3	43		
PRX	57716	broad.mit.edu	37	19	40902836	40902836	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:40902836C>T	ENST00000324001.7	-	7	1693	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	475	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E475K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTTTCATCTCTGACACCTTG	0.582																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1423-1425)GAG>AAG		periaxin isoform 2							83.0	95.0	91.0					19																	40902836		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902836C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1423G>A	19.37:g.40902836C>T	ENSP00000326018:p.Glu475Lys					PRX_uc002onq.2_Missense_Mutation_p.E336K|PRX_uc002ons.2_3'UTR	p.E475K	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1692	-			475			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|7.		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1423G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062755	0.36373	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01871	4.59	4.09	4.09	0.47781	.	0.130869	0.34603	N	0.003825	T	0.02533	0.0077	L	0.59912	1.85	0.80722	D	1	P	0.41131	0.739	B	0.39119	0.291	T	0.39761	-0.9598	10	0.02654	T	1	-23.5105	9.6642	0.39974	0.0:0.8965:0.0:0.1035	.	475	Q9BXM0	PRAX_HUMAN	K	475	ENSP00000326018:E475K	ENSP00000326018:E475K	E	-	1	0	PRX	45594676	0.024000	0.19004	0.804000	0.32291	0.553000	0.35397	0.851000	0.27751	2.107000	0.64212	0.462000	0.41574	GAG		0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		56	95	0	0	0	0.048971	0	56	95		
PRX	57716	broad.mit.edu	37	19	40903232	40903232	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:40903232C>T	ENST00000324001.7	-	7	1297	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	343					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E343K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCACCTCTGCACCCGGC	0.652																																						uc002onr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1027-1029)GAG>AAG		periaxin isoform 2							21.0	24.0	23.0					19																	40903232		2189	4270	6459	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903232C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1027G>A	19.37:g.40903232C>T	ENSP00000326018:p.Glu343Lys					PRX_uc002onq.2_Missense_Mutation_p.E204K|PRX_uc002ons.2_3'UTR	p.E343K	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1296	-			343					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1027G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255580	0.22965	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.00730	5.77	4.56	4.56	0.56223	.	0.559837	0.18559	N	0.137694	T	0.01254	0.0041	N	0.12853	0.265	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.77133	-0.2700	10	0.33141	T	0.24	-18.0441	5.719	0.17976	0.1952:0.707:0.0:0.0977	.	343	Q9BXM0	PRAX_HUMAN	K	343	ENSP00000326018:E343K	ENSP00000326018:E343K	E	-	1	0	PRX	45595072	0.009000	0.17119	0.935000	0.37517	0.081000	0.17604	1.116000	0.31221	2.359000	0.80004	0.561000	0.74099	GAG		0.652	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		17	31	0	0	0	0.062417	0	17	31		
KLK12	43849	broad.mit.edu	37	19	51535219	51535219	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:51535219C>T	ENST00000525263.1	-	3	489	c.370G>A	c.(370-372)Gtt>Att	p.V124I	KLK12_ENST00000319590.4_Missense_Mutation_p.V124I|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Missense_Mutation_p.V124I|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	124	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V124I(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGGGGTTGAACGCTGCTGGTT	0.677																																						uc002pvg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(370-372)GTT>ATT		kallikrein 12 isoform 2							46.0	47.0	46.0					19																	51535219		2203	4300	6503	SO:0001583	missense	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51535219C>T		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.370G>A	19.37:g.51535219C>T	ENSP00000436458:p.Val124Ile					KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.V124I|KLK12_uc002pvi.1_Missense_Mutation_p.V124I|KLK12_uc002pvj.1_Intron	p.V124I	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	3	490	-		all_neural(266;0.026)	124			Peptidase S1.		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	c.370G>A	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.665344	0.29604	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250351	D;D;D	0.90844	-2.74;-2.74;-2.74	4.07	1.87	0.25490	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.35124	N	0.003432	D	0.83608	0.5291	N	0.11724	0.165	0.25775	N	0.984796	P;D	0.60575	0.835;0.988	P;P	0.51324	0.666;0.665	T	0.76313	-0.3005	10	0.52906	T	0.07	.	6.9136	0.24347	0.0:0.7827:0.0:0.2173	.	124;124	Q9UKR0-2;Q9UKR0	.;KLK12_HUMAN	I	124	ENSP00000436458:V124I;ENSP00000324181:V124I;ENSP00000250351:V124I	ENSP00000250351:V124I	V	-	1	0	KLK12	56227031	0.413000	0.25400	0.022000	0.16811	0.003000	0.03518	2.270000	0.43355	0.496000	0.27904	0.650000	0.86243	GTT		0.677	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1		NM_019598		19	32	0	0	0	0.043863	0	19	32		
LILRA2	11027	broad.mit.edu	37	19	55085555	55085555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:55085555G>A	ENST00000251377.3	+	3	180	c.47G>A	c.(46-48)gGc>gAc	p.G16D	LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G16D|LILRB1_ENST00000418536.2_Missense_Mutation_p.G16D|LILRB1_ENST00000396321.2_Missense_Mutation_p.G16D|LILRA2_ENST00000391738.3_Missense_Mutation_p.G16D|LILRB1_ENST00000448689.1_Missense_Mutation_p.G16D|LILRA2_ENST00000495786.1_3'UTR			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	16					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G16D(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGAGTCTGGGCCCCAGGACC	0.647																																						uc002qgg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(46-48)GGC>GAC		leukocyte immunoglobulin-like receptor,							71.0	80.0	77.0					19																	55085555		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085555G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.47G>A	19.37:g.55085555G>A	ENSP00000251377:p.Gly16Asp					LILRA2_uc010ern.2_Missense_Mutation_p.G16D|LILRA2_uc002qgf.2_Missense_Mutation_p.G16D|LILRA2_uc010yfe.1_Missense_Mutation_p.G16D|LILRA2_uc010yff.1_Intron|LILRA2_uc010ero.2_Intron|LILRA2_uc010yfg.1_Missense_Mutation_p.G16D	p.G16D	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	2	136	+			16					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.47G>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	g	6.108	0.388152	0.11581	.	.	ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000104972;ENSG00000104972;ENSG00000104972	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000396321;ENST00000418536;ENST00000448689	T;T;T;T;T;T;T	0.00525	6.98;6.86;6.86;6.81;6.94;6.96;6.82	2.87	0.621	0.17643	.	0.606154	0.14588	N	0.310453	T	0.00524	0.0017	L	0.53780	1.695	0.09310	N	1	B;B;B;B	0.22003	0.003;0.063;0.005;0.06	B;B;B;B	0.30251	0.007;0.053;0.012;0.113	T	0.40869	-0.9540	10	0.54805	T	0.06	.	6.1402	0.20255	0.263:0.0:0.737:0.0	.	16;16;16;16	Q99702;E9PDF4;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	D	16	ENSP00000388131:G16D;ENSP00000251377:G16D;ENSP00000375618:G16D;ENSP00000251376:G16D;ENSP00000379614:G16D;ENSP00000391514:G16D;ENSP00000409968:G16D	ENSP00000251376:G16D	G	+	2	0	LILRB1;LILRA2	59777367	0.005000	0.15991	0.016000	0.15963	0.137000	0.21094	0.049000	0.14099	0.075000	0.16796	-1.943000	0.00494	GGC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2				31	53	0	0	0	0.041601	0	31	53		
ZSCAN1	284312	broad.mit.edu	37	19	58563891	58563891	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:58563891G>A	ENST00000282326.1	+	5	746	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	167					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A167T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTGGCAGCAGCCCCAGCACT	0.652																																						uc002qrc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(499-501)GCC>ACC		zinc finger and SCAN domain containing 1							43.0	44.0	44.0					19																	58563891		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58563891G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.499G>A	19.37:g.58563891G>A	ENSP00000282326:p.Ala167Thr						p.A167T	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	746	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	167					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.499G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283855	0.23392	.	.	ENSG00000152467	ENST00000282326	T	0.04234	3.67	1.51	1.51	0.23008	.	.	.	.	.	T	0.02304	0.0071	N	0.14661	0.345	0.19300	N	0.999976	B	0.31931	0.347	B	0.17722	0.019	T	0.47142	-0.9140	9	0.14252	T	0.57	.	6.8732	0.24133	0.0:0.0:1.0:0.0	.	167	Q8NBB4	ZSCA1_HUMAN	T	167	ENSP00000282326:A167T	ENSP00000282326:A167T	A	+	1	0	ZSCAN1	63255703	0.060000	0.20803	0.003000	0.11579	0.013000	0.08279	1.923000	0.40055	0.734000	0.32515	0.491000	0.48974	GCC		0.652	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		NM_182572		32	25	0	0	0	0.059317	0	32	25		
DYSF	8291	broad.mit.edu	37	2	71748031	71748031	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:71748031G>A	ENST00000258104.3	+	11	1327	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	DYSF_ENST00000409744.1_Silent_p.A351A|DYSF_ENST00000413539.2_Silent_p.A381A|DYSF_ENST00000394120.2_Silent_p.A351A|DYSF_ENST00000410041.1_Silent_p.A382A|DYSF_ENST00000409366.1_Silent_p.A351A|DYSF_ENST00000409582.3_Silent_p.A381A|DYSF_ENST00000409762.1_Silent_p.A381A|DYSF_ENST00000409651.1_Silent_p.A382A|DYSF_ENST00000429174.2_Silent_p.A350A|DYSF_ENST00000410020.3_Silent_p.A382A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	350					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)	p.A350A(1)|p.A382A(1)		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						GGGACGAAGCGCCTGTGAGTA	0.542																																						uc002sie.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1048-1050)GCG>GCA		dysferlin isoform 8							81.0	69.0	73.0					2																	71748031		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71748031G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1050G>A	2.37:g.71748031G>A						DYSF_uc010feg.2_Silent_p.A381A|DYSF_uc010feh.2_Silent_p.A350A|DYSF_uc002sig.3_Silent_p.A350A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.A350A|DYSF_uc010fef.2_Silent_p.A381A|DYSF_uc010fei.2_Silent_p.A381A|DYSF_uc010fek.2_Silent_p.A382A|DYSF_uc010fej.2_Silent_p.A351A|DYSF_uc010fel.2_Silent_p.A351A|DYSF_uc010feo.2_Silent_p.A382A|DYSF_uc010fem.2_Silent_p.A351A|DYSF_uc010fen.2_Silent_p.A382A|DYSF_uc002sif.2_Silent_p.A351A	p.A350A	NM_003494	NP_003485	O75923	DYSF_HUMAN			11	1426	+			350			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.1050G>A	CCDS1918.1																																																																																				0.542	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		17	28	0	0	0	0.0333	0	17	28		
SLC5A7	60482	broad.mit.edu	37	2	108626805	108626805	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:108626805G>C	ENST00000264047.2	+	9	1507	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	SLC5A7_ENST00000409059.1_Missense_Mutation_p.D411H|SLC5A7_ENST00000540517.1_Missense_Mutation_p.D306H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	411					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.D411H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTCAGTTCTGACCTTGTTTA	0.488																																						uc002tdv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1231-1233)GAC>CAC		solute carrier family 5 (choline transporter),	Choline(DB00122)						281.0	220.0	240.0					2																	108626805		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626805G>C	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1231G>C	2.37:g.108626805G>C	ENSP00000264047:p.Asp411His					SLC5A7_uc010ywm.1_Missense_Mutation_p.D164H|SLC5A7_uc010fjj.2_Missense_Mutation_p.D411H|SLC5A7_uc010ywn.1_Missense_Mutation_p.D298H	p.D411H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1507	+			411			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1231G>C	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298676	0.81025	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88431	-2.38;-2.38;-2.38	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.96160	0.8748	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95938	0.8944	10	0.59425	D	0.04	-25.2549	20.4024	0.99000	0.0:0.0:1.0:0.0	.	411	Q9GZV3	SC5A7_HUMAN	H	411;306;411	ENSP00000387346:D411H;ENSP00000445351:D306H;ENSP00000264047:D411H	ENSP00000264047:D411H	D	+	1	0	SLC5A7	107993237	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	9.869000	0.99810	2.827000	0.97445	0.650000	0.86243	GAC		0.488	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1				32	40	0	0	0	0.041601	0	32	40		
LRP1B	53353	broad.mit.edu	37	2	141457909	141457909	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:141457909C>G	ENST00000389484.3	-	41	7680	c.6709G>C	c.(6709-6711)Ggt>Cgt	p.G2237R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2237					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)	p.G2237R(1)		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)		CGGTTGGTACCTTTTCTTCTT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6709-6711)GGT>CGT		low density lipoprotein-related protein 1B							127.0	132.0	130.0					2																	141457909		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141457909C>G	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.6709G>C	2.37:g.141457909C>G	ENSP00000374135:p.Gly2237Arg	TSP Lung(27;0.18)					p.G2237R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		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)	41	7681	-		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)	2237			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6709G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513764	0.64522	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89810	-2.57	4.47	4.47	0.54385	Six-bladed beta-propeller, TolB-like (1);	0.262251	0.30068	U	0.010498	D	0.86138	0.5861	L	0.51422	1.61	0.41067	D	0.985425	B	0.17038	0.02	B	0.17433	0.018	T	0.82500	-0.0426	10	0.25751	T	0.34	.	17.4918	0.87705	0.0:1.0:0.0:0.0	.	2237	Q9NZR2	LRP1B_HUMAN	R	2237;2175	ENSP00000374135:G2237R	ENSP00000374135:G2237R	G	-	1	0	LRP1B	141174379	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	2.306000	0.43673	2.176000	0.68965	0.585000	0.79938	GGT		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		42	55	0	0	0	0.09836	0	42	55		
TTN	7273	broad.mit.edu	37	2	179650718	179650718	+	Missense_Mutation	SNP	C	C	T	rs370728359		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:179650718C>T	ENST00000591111.1	-	14	2451	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TTN_ENST00000460472.2_Missense_Mutation_p.A697T|TTN_ENST00000360870.5_Missense_Mutation_p.A743T|TTN_ENST00000342175.6_Missense_Mutation_p.A697T|TTN_ENST00000589042.1_Missense_Mutation_p.A743T|TTN_ENST00000342992.6_Missense_Mutation_p.A743T|TTN_ENST00000359218.5_Missense_Mutation_p.A697T			Q8WZ42	TITIN_HUMAN	titin	33584			A -> V (in CMD1G; affects interaction with TCAP/telethonin). {ECO:0000269|PubMed:11846417}.		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)	p.A743T(3)|p.A697T(3)		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)			ACCTTTGCGGCGGAAATGCGT	0.547																																						uc010zfg.1		NaN																	6	Substitution - Missense(6)		urinary_tract(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2227-2229)GCC>ACC		titin isoform N2-A		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	98.0	89.0	92.0		2089,2089,2227,2227,2089	-1.1	0.0	2		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	697/27119,697/27052,743/5605,743/33424,697/26927	179650718	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650718C>T	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.2227G>A	2.37:g.179650718C>T	ENSP00000465570:p.Ala743Thr					TTN_uc010zfh.1_Missense_Mutation_p.A697T|TTN_uc010zfi.1_Missense_Mutation_p.A697T|TTN_uc010zfj.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	p.A743T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2451	-			743					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	37	c.2227G>A		.	.	.	.	.	.	.	.	.	.	C	7.909	0.736077	0.15574	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.18;0.17;0.16;0.12	6.17	-1.1	0.09872	Ribonuclease H-like (1);	.	.	.	.	T	0.41581	0.1165	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.0;0.0;0.017	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.001;0.004	T	0.26503	-1.0101	9	0.87932	D	0	.	6.8587	0.24054	0.0:0.4598:0.2009:0.3393	.	697;697;697;743;743	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	743;697;697;697;697;743	ENSP00000343764:A743T;ENSP00000434586:A697T;ENSP00000340554:A697T;ENSP00000352154:A697T;ENSP00000354117:A743T	ENSP00000340554:A697T	A	-	1	0	TTN	179358963	0.001000	0.12720	0.001000	0.08648	0.062000	0.15995	-0.068000	0.11561	-0.530000	0.06349	0.655000	0.94253	GCC		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		24	33	0	0	0	0.083992	0	24	33		
ZSWIM2	151112	broad.mit.edu	37	2	187694567	187694567	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:187694567G>T	ENST00000295131.2	-	8	1021	c.982C>A	c.(982-984)Ctc>Atc	p.L328I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	328					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L328I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCAGTTGGAGAGGCAGTGAT	0.393																																						uc002upu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(982-984)CTC>ATC		zinc finger, SWIM domain containing 2							201.0	190.0	193.0					2																	187694567		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187694567G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.982C>A	2.37:g.187694567G>T	ENSP00000295131:p.Leu328Ile						p.L328I	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1022	-			328					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.982C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	9.749	1.166904	0.21621	.	.	ENSG00000163012	ENST00000295131	T	0.24723	1.84	5.74	3.76	0.43208	.	0.136258	0.34067	N	0.004298	T	0.20088	0.0483	L	0.47190	1.495	0.09310	N	1	B	0.18863	0.031	B	0.19148	0.024	T	0.18429	-1.0337	10	0.41790	T	0.15	-0.6192	5.6497	0.17610	0.1763:0.0:0.6713:0.1523	.	328	Q8NEG5	ZSWM2_HUMAN	I	328	ENSP00000295131:L328I	ENSP00000295131:L328I	L	-	1	0	ZSWIM2	187402812	0.009000	0.17119	0.814000	0.32528	0.404000	0.30871	0.151000	0.16283	0.756000	0.33013	0.563000	0.77884	CTC		0.393	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1		NM_182521		42	64	1	0	8.01111e-26	0.039052	9.55948e-26	42	64		
ECEL1	9427	broad.mit.edu	37	2	233345140	233345140	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:233345140G>A	ENST00000304546.1	-	17	2407	c.2197C>T	c.(2197-2199)Ctg>Ttg	p.L733L	ECEL1_ENST00000409941.1_Silent_p.L731L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	733					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.L733L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTGTCAGTCAGCACCTGCAGG	0.637																																						uc002vsv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(2197-2199)CTG>TTG		endothelin converting enzyme-like 1							66.0	67.0	67.0					2																	233345140		2203	4300	6503	SO:0001819	synonymous_variant	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233345140G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.2197C>T	2.37:g.233345140G>A						ECEL1_uc010fya.1_Silent_p.L731L|ECEL1_uc010fyb.1_Silent_p.L440L	p.L733L	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	17	2402	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	733			Lumenal (Potential).		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	c.2197C>T	CCDS2493.1																																																																																				0.637	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2		NM_004826		16	28	0	0	0	0.0333	0	16	28		
MMP9	4318	broad.mit.edu	37	20	44640373	44640373	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:44640373C>A	ENST00000372330.3	+	6	1003	c.984C>A	c.(982-984)ttC>ttA	p.F328L	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	328	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F328L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCTTCGGCTTCTGCCCGACCC	0.637											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(982-984)TTC>TTA		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						53.0	47.0	49.0					20																	44640373		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44640373C>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.984C>A	20.37:g.44640373C>A	ENSP00000361405:p.Phe328Leu		OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.F328L	NM_004994	NP_004985	P14780	MMP9_HUMAN			6	1003	+		Myeloproliferative disorder(115;0.0122)	328			Fibronectin type-II 2.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.984C>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107958	0.77096	.	.	ENSG00000100985	ENST00000372330	T	0.54479	0.57	4.3	3.35	0.38373	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	M	0.75615	2.305	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.68002	-0.5524	10	0.56958	D	0.05	.	8.1931	0.31381	0.0:0.8178:0.0:0.1822	.	328	P14780	MMP9_HUMAN	L	328	ENSP00000361405:F328L	ENSP00000361405:F328L	F	+	3	2	MMP9	44073780	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	2.047000	0.41269	1.170000	0.42753	0.561000	0.74099	TTC		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1				8	30	1	0	1.12685e-05	0.047766	1.2031e-05	8	30		
SYCP2	10388	broad.mit.edu	37	20	58439419	58439419	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:58439419G>A	ENST00000357552.3	-	45	4765	c.4540C>T	c.(4540-4542)Cgc>Tgc	p.R1514C	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1514C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1514					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.R1514C(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGTTCTCTGCGTACATTAAGA	0.299																																						uc002yaz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(2)	5						c.(4540-4542)CGC>TGC		synaptonemal complex protein 2							62.0	57.0	59.0					20																	58439419		2201	4290	6491	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58439419G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4540C>T	20.37:g.58439419G>A	ENSP00000350162:p.Arg1514Cys						p.R1514C	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		44	4679	-	all_lung(29;0.00344)		1514					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4540C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.662049	0.67700	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.25749	1.78;1.78	5.31	4.36	0.52297	.	0.092272	0.48286	D	0.000192	T	0.27384	0.0672	M	0.66939	2.045	0.53688	D	0.99997	B	0.31100	0.308	B	0.26202	0.067	T	0.09530	-1.0670	10	0.87932	D	0	-1.0975	11.6587	0.51334	0.0869:0.0:0.9131:0.0	.	1514	Q9BX26	SYCP2_HUMAN	C	1514;1514;200	ENSP00000360040:R1514C;ENSP00000350162:R1514C	ENSP00000350162:R1514C	R	-	1	0	SYCP2	57872814	1.000000	0.71417	0.965000	0.40720	0.857000	0.48899	5.935000	0.70145	1.250000	0.43966	0.305000	0.20034	CGC		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3		NM_014258		6	14	0	0	0	0.02938	0	6	14		
MRGBP	55257	broad.mit.edu	37	20	61428556	61428556	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:61428556G>C	ENST00000370487.3	+	2	314	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	81					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L81L(1)									GGGACCATCTGAGCACCATGT	0.607																																						uc002ydi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(241-243)CTG>CTC		MRG-binding protein							86.0	66.0	73.0					20																	61428556		2202	4300	6502	SO:0001819	synonymous_variant	55257				chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		g.chr20:61428556G>C	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.243G>C	20.37:g.61428556G>C							p.L81L	NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN			2	314	+	Breast(26;3.65e-08)		81					A8C4L5	Silent	SNP	ENST00000370487.3	37	c.243G>C	CCDS13503.1																																																																																				0.607	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1		NM_018270		17	33	0	0	0	0.028581	0	17	33		
MRGBP	55257	broad.mit.edu	37	20	61429948	61429948	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:61429948G>C	ENST00000370487.3	+	3	351	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	94					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E94Q(1)									GCATGAGTCTGAGATTCTTCC	0.478																																						uc002ydi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(280-282)GAG>CAG		MRG-binding protein							151.0	155.0	154.0					20																	61429948		2203	4300	6503	SO:0001583	missense	55257				chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		g.chr20:61429948G>C	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.280G>C	20.37:g.61429948G>C	ENSP00000359518:p.Glu94Gln						p.E94Q	NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN			3	351	+	Breast(26;3.65e-08)		94					A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	c.280G>C	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463688	0.63513	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88244	0.2912	9	0.87932	D	0	-31.2628	18.6276	0.91347	0.0:0.0:1.0:0.0	.	94	Q9NV56	MRGBP_HUMAN	Q	94	.	ENSP00000359518:E94Q	E	+	1	0	C20orf20	60900393	1.000000	0.71417	0.998000	0.56505	0.197000	0.23852	7.989000	0.88205	2.380000	0.81148	0.561000	0.74099	GAG		0.478	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1		NM_018270		68	164	0	0	0	0.048971	0	68	164		
CHODL	140578	broad.mit.edu	37	21	19632552	19632552	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr21:19632552C>G	ENST00000299295.2	+	4	974	c.583C>G	c.(583-585)Ctt>Gtt	p.L195V	CHODL_ENST00000400131.1_Missense_Mutation_p.L154V|CHODL_ENST00000400128.1_Missense_Mutation_p.L154V|CHODL_ENST00000543733.1_Missense_Mutation_p.L176V|CHODL_ENST00000400127.1_Missense_Mutation_p.L154V|CHODL_ENST00000400135.1_Missense_Mutation_p.L154V|CHODL_ENST00000338326.3_Missense_Mutation_p.L154V	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	195					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.L154V(1)|p.L195V(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AAAGCCTTATCTTACAAATCA	0.323																																						uc002ykv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	upper_aerodigestive_tract(1)	1						c.(583-585)CTT>GTT		chondrolectin precursor							101.0	102.0	101.0					21																	19632552		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19632552C>G	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.583C>G	21.37:g.19632552C>G	ENSP00000299295:p.Leu195Val					CHODL_uc002ykr.2_Missense_Mutation_p.L154V|CHODL_uc002yks.2_Missense_Mutation_p.L154V|CHODL_uc002ykt.2_Missense_Mutation_p.L154V|CHODL_uc002yku.2_Missense_Mutation_p.L154V	p.L195V	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	4	974	+		all_epithelial(11;0.21)	195			Extracellular (Potential).		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.583C>G	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840242	0.16891	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.18338	2.31;2.22;2.22;2.31;2.3;2.22;2.31	5.41	3.2	0.36748	.	0.723565	0.12967	N	0.424502	T	0.07413	0.0187	N	0.08118	0	0.25166	N	0.990314	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.12837	0.0;0.001;0.008	T	0.36359	-0.9751	9	.	.	.	-5.4506	4.7219	0.12922	0.0:0.2197:0.5512:0.2291	.	195;176;154	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	V	154;154;154;154;195;154;176	ENSP00000382993:L154V;ENSP00000382996:L154V;ENSP00000383001:L154V;ENSP00000382992:L154V;ENSP00000299295:L195V;ENSP00000339975:L154V;ENSP00000443566:L176V	.	L	+	1	0	CHODL	18554423	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.320000	0.43797	1.202000	0.43218	0.650000	0.86243	CTT		0.323	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1		NM_024944		36	59	0	0	0	0.092188	0	36	59		
BCL2L13	23786	broad.mit.edu	37	22	18171756	18171756	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:18171756C>T	ENST00000317582.5	+	4	581	c.234C>T	c.(232-234)ttC>ttT	p.F78F	BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_Silent_p.F78F|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000493680.1_Silent_p.F78F|BCL2L13_ENST00000399782.1_Silent_p.F78F|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000543133.1_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	78					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.F78F(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTTCAGCCTTCACCAGCACAG	0.448																																						uc002zmw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(232-234)TTC>TTT		BCL2-like 13 (apoptosis facilitator)							84.0	83.0	83.0					22																	18171756		2203	4300	6503	SO:0001819	synonymous_variant	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18171756C>T	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.234C>T	22.37:g.18171756C>T						BCL2L13_uc002zmu.2_Silent_p.F78F|BCL2L13_uc002zmv.2_Silent_p.F78F|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Silent_p.F78F|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	p.F78F	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	4	452	+		all_epithelial(15;0.123)	78					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Silent	SNP	ENST00000317582.5	37	c.234C>T	CCDS13746.1																																																																																				0.448	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1		NM_015367		33	31	0	0	0	0.059317	0	33	31		
MICAL3	57553	broad.mit.edu	37	22	18293495	18293495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:18293495C>G	ENST00000441493.2	-	28	5882	c.5530G>C	c.(5530-5532)Gag>Cag	p.E1844Q	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1844					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.E222Q(1)|p.E1844Q(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGCTTAAGCTCCTCCTGCTTG	0.592																																						uc002zng.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(5530-5532)GAG>CAG		microtubule associated monoxygenase, calponin							87.0	94.0	91.0					22																	18293495		2181	4281	6462	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18293495C>G	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5530G>C	22.37:g.18293495C>G	ENSP00000416015:p.Glu1844Gln					MICAL3_uc011agl.1_Missense_Mutation_p.E1760Q|MICAL3_uc010gre.1_RNA	p.E1844Q	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	28	5883	-		all_epithelial(15;0.198)	1844			Potential.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.5530G>C	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.841940|2.841940	0.51057|0.51057	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.66280|.	-0.2|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.189561|.	0.43919|.	D|.	0.000520|.	T|T	0.58694|0.58694	0.2140|0.2140	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.77557|.	0.99|.	T|T	0.55335|0.55335	-0.8157|-0.8157	10|5	0.28530|.	T|.	0.3|.	.|.	17.8904|17.8904	0.88870|0.88870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1844|.	Q7RTP6|.	MICA3_HUMAN|.	Q|S	1844|825	ENSP00000416015:E1844Q|.	ENSP00000416015:E1844Q|.	E|R	-|-	1|3	0|2	XXbac-B461K10.4|XXbac-B461K10.4	16673495|16673495	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.969000|0.969000	0.65631|0.65631	7.818000|7.818000	0.86416|0.86416	2.215000|2.215000	0.71742|0.71742	0.462000|0.462000	0.41574|0.41574	GAG|AGG		0.592	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1				20	21	0	0	0	0.062417	0	20	21		
DEPDC5	9681	broad.mit.edu	37	22	32266660	32266660	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:32266660A>C	ENST00000382112.3	+	33	3458	c.3388A>C	c.(3388-3390)Agc>Cgc	p.S1130R	DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1039R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1139R|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S1139R|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1108R|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1117R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1108R|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S1061R	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1139					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.S1039R(1)|p.S1108R(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGAGGCAACAGCCAGACCTT	0.512																																						uc003als.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(3322-3324)AGC>CGC		DEP domain containing 5 isoform 1							95.0	96.0	96.0					22																	32266660		1980	4176	6156	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32266660A>C	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3388A>C	22.37:g.32266660A>C	ENSP00000371546:p.Ser1130Arg					DEPDC5_uc011als.1_Missense_Mutation_p.S1039R|DEPDC5_uc011alu.1_Missense_Mutation_p.S1139R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1130R|DEPDC5_uc003alu.2_Missense_Mutation_p.S557R|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.S460R|DEPDC5_uc003alw.2_Missense_Mutation_p.S406R|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S134R|DEPDC5_uc011aly.1_5'UTR	p.S1108R	NM_014662	NP_055477	O75140	DEPD5_HUMAN			33	3464	+			1108					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3322A>C	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.10|13.10	2.137275|2.137275	0.37728|0.37728	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.34472	.|1.5;1.92;1.92;1.84;1.36;1.86;1.84;1.92	5.8|5.8	4.77|4.77	0.60923|0.60923	.|.	.|0.332317	.|0.30639	.|N	.|0.009182	T|T	0.29491|0.29491	0.0735|0.0735	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.33266	.|0.404;0.0;0.121;0.061;0.02;0.0;0.055	.|B;B;B;B;B;B;B	.|0.42112	.|0.376;0.0;0.051;0.068;0.023;0.0;0.006	T|T	0.10941|0.10941	-1.0608|-1.0608	5|10	.|0.40728	.|T	.|0.16	.|.	9.3344|9.3344	0.38040|0.38040	0.9182:0.0:0.0818:0.0|0.9182:0.0:0.0818:0.0	.|.	.|460;1139;1039;525;1117;1130;1108	.|B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;.;DEPD5_HUMAN	P|R	514|1039;1117;1108;1039;1139;1061;1130;1139;1108	.|ENSP00000440210:S1039R;ENSP00000266091:S1117R;ENSP00000383108:S1108R;ENSP00000383105:S1139R;ENSP00000371539:S1061R;ENSP00000371546:S1130R;ENSP00000371545:S1139R;ENSP00000383107:S1108R	.|ENSP00000266091:S1117R	Q|S	+|+	2|1	0|0	DEPDC5|DEPDC5	30596660|30596660	0.098000|0.098000	0.21812|0.21812	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.102000|1.102000	0.31050|0.31050	1.027000|1.027000	0.39758|0.39758	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.512	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		15	32	0	0	0	0.0333	0	15	32		
H1F0	3005	broad.mit.edu	37	22	38201996	38201996	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:38201996A>C	ENST00000340857.2	+	1	883	c.445A>C	c.(445-447)Aag>Cag	p.K149Q	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	149					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.K149Q(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					GGCCAAGAAGAAGCTGGCTGC	0.547																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	uc003aty.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(445-447)AAG>CAG		H1 histone family, member 0							64.0	68.0	66.0					22																	38201996		2203	4300	6503	SO:0001583	missense	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38201996A>C	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.445A>C	22.37:g.38201996A>C	ENSP00000344504:p.Lys149Gln					GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank	p.K149Q	NM_005318	NP_005309	P07305	H10_HUMAN			1	883	+	Melanoma(58;0.045)		149					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	ENST00000340857.2	37	c.445A>C	CCDS13956.1	.	.	.	.	.	.	.	.	.	.	a	13.62	2.290720	0.40494	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.08102	3.13	5.48	3.33	0.38152	.	0.968495	0.08453	N	0.943623	T	0.05960	0.0155	N	0.14661	0.345	0.47949	D	0.999558	B	0.09022	0.002	B	0.06405	0.002	T	0.24870	-1.0148	10	0.32370	T	0.25	.	8.6004	0.33740	0.802:0.1302:0.0678:0.0	.	149	P07305	H10_HUMAN	Q	149;132	ENSP00000344504:K149Q	ENSP00000344504:K149Q	K	+	1	0	H1F0	36531942	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	4.465000	0.60141	0.443000	0.26582	-0.250000	0.11733	AAG		0.547	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1		NM_005318		35	25	0	0	0	0.059317	0	35	25		
MEI1	150365	broad.mit.edu	37	22	42126536	42126536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:42126536G>C	ENST00000401548.3	+	9	1031	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.E71Q|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.E331Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCCTCTTTGAGCATCTTTC	0.453																																						uc003baz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(991-993)GAG>CAG		meiosis defective 1							178.0	158.0	165.0					22																	42126536		1943	4149	6092	SO:0001583	missense	150365						binding	g.chr22:42126536G>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.991G>C	22.37:g.42126536G>C	ENSP00000384115:p.Glu331Gln					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.E331Q|MEI1_uc011apd.1_RNA	p.E331Q	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			9	1016	+			331						Missense_Mutation	SNP	ENST00000401548.3	37	c.991G>C	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652345	0.88056	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.16457	2.34;3.55	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.058735	0.64402	D	0.000003	T	0.43233	0.1238	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	T	0.12553	-1.0543	10	0.72032	D	0.01	-4.5534	19.8673	0.96808	0.0:0.0:1.0:0.0	.	331;331	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	Q	331;71	ENSP00000384115:E331Q;ENSP00000444225:E71Q	ENSP00000384115:E331Q	E	+	1	0	MEI1	40456482	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.152000	0.77419	2.793000	0.96121	0.563000	0.77884	GAG		0.453	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3		NM_152513		17	20	0	0	0	0.0333	0	17	20		
EDEM1	9695	broad.mit.edu	37	3	5248946	5248946	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:5248946C>A	ENST00000256497.4	+	7	1459	c.1326C>A	c.(1324-1326)ttC>ttA	p.F442L	EDEM1_ENST00000445686.1_Missense_Mutation_p.F247L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.F442L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGGCCTTTTTCCCTGGACTGC	0.458																																						uc003bqi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1324-1326)TTC>TTA		ER degradation enhancer, mannosidase alpha-like							152.0	148.0	150.0					3																	5248946		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248946C>A	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1326C>A	3.37:g.5248946C>A	ENSP00000256497:p.Phe442Leu					EDEM1_uc011asz.1_Missense_Mutation_p.F220L|EDEM1_uc003bqh.2_Missense_Mutation_p.F442L	p.F442L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1458	+			442			Lumenal (Potential).		A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1326C>A	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112484	0.56398	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.69926	-0.44;-0.44	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	N	0.17872	0.535	0.80722	D	1	B;B	0.32338	0.033;0.365	B;B	0.37888	0.038;0.26	T	0.52011	-0.8632	10	0.26408	T	0.33	-32.8073	13.0156	0.58754	0.0:0.8865:0.0:0.1135	.	247;442	B4DXP3;Q92611	.;EDEM1_HUMAN	L	442;247	ENSP00000256497:F442L;ENSP00000394099:F247L	ENSP00000256497:F442L	F	+	3	2	EDEM1	5223946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.136000	0.31467	2.793000	0.96121	0.655000	0.94253	TTC		0.458	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2		NM_014674		42	49	1	0	5.44703e-19	0.11126	6.39238e-19	42	49		
EDEM1	9695	broad.mit.edu	37	3	5251877	5251877	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:5251877C>G	ENST00000256497.4	+	9	1660	c.1527C>G	c.(1525-1527)ttC>ttG	p.F509L	EDEM1_ENST00000445686.1_Missense_Mutation_p.F314L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	509					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.F509L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGAATCCCTTCTACCTCCATG	0.448																																						uc003bqi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1525-1527)TTC>TTG		ER degradation enhancer, mannosidase alpha-like							136.0	122.0	127.0					3																	5251877		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5251877C>G	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1527C>G	3.37:g.5251877C>G	ENSP00000256497:p.Phe509Leu					EDEM1_uc003bqh.2_Missense_Mutation_p.F509L	p.F509L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	9	1659	+			509			Lumenal (Potential).		A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1527C>G	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899981	0.72754	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.71461	-0.57;-0.57	5.36	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.66297	2.02	0.80722	D	1	D	0.56287	0.975	P	0.60541	0.876	T	0.71497	-0.4575	10	0.22109	T	0.4	-31.4728	6.3808	0.21533	0.0:0.7845:0.0:0.2155	.	509	Q92611	EDEM1_HUMAN	L	509;314	ENSP00000256497:F509L;ENSP00000394099:F314L	ENSP00000256497:F509L	F	+	3	2	EDEM1	5226877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.868000	0.39509	2.516000	0.84829	0.655000	0.94253	TTC		0.448	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2		NM_014674		31	50	0	0	0	0.064281	0	31	50		
GRM7	2917	broad.mit.edu	37	3	7721860	7721860	+	Missense_Mutation	SNP	G	G	A	rs369197989		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:7721860G>A	ENST00000357716.4	+	9	2850	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	GRM7_ENST00000403881.1_Missense_Mutation_p.R859Q|GRM7_ENST00000389336.4_Missense_Mutation_p.R859Q|GRM7_ENST00000402647.2_Missense_Mutation_p.R859Q|GRM7_ENST00000486284.1_Missense_Mutation_p.R859Q	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	859					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R859Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GTCCAGAAACGGAAGCGAAGC	0.517																																						uc003bqm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(3)	7						c.(2575-2577)CGG>CAG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	98.0	81.0	87.0		2576,2576	5.2	1.0	3		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRM7	NM_000844.3,NM_181874.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	859/916,859/923	7721860	1,13005	2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7721860G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2576G>A	3.37:g.7721860G>A	ENSP00000350348:p.Arg859Gln					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R859Q|GRM7_uc003bql.2_Missense_Mutation_p.R859Q|GRM7_uc003bqn.1_Missense_Mutation_p.R442Q	p.R859Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN			9	2850	+			859			Cytoplasmic (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2576G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339755	0.81911	0.0	1.16E-4	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.89123	-2.42;-2.47;-2.46;-2.46;-2.47	5.17	5.17	0.71159	GPCR, family 3, C-terminal (1);	0.112900	0.64402	D	0.000020	D	0.93520	0.7932	M	0.71206	2.165	0.58432	D	0.999992	D;D;D;D	0.76494	0.998;0.994;0.997;0.999	D;P;D;P	0.72982	0.979;0.885;0.953;0.873	D	0.92029	0.5632	10	0.30854	T	0.27	.	17.5976	0.88016	0.0:0.0:1.0:0.0	.	859;614;859;859	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	Q	859	ENSP00000350348:R859Q;ENSP00000417536:R859Q;ENSP00000373987:R859Q;ENSP00000385664:R859Q;ENSP00000384585:R859Q	ENSP00000350348:R859Q	R	+	2	0	GRM7	7696860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.562000	0.86427	0.585000	0.79938	CGG		0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3		NM_000844		22	26	0	0	0	0.069288	0	22	26		
MST1R	4486	broad.mit.edu	37	3	49929005	49929005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:49929005C>A	ENST00000296474.3	-	16	3388	c.3361G>T	c.(3361-3363)Gag>Tag	p.E1121*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.E1072*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.E1121*(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTGCATCTCTGTGATGCCT	0.582																																						uc003cxy.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(5)|lung(1)	6						c.(3361-3363)GAG>TAG		macrophage stimulating 1 receptor precursor							70.0	66.0	68.0					3																	49929005		2203	4300	6503	SO:0001587	stop_gained	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929005C>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3361G>T	3.37:g.49929005C>A	ENSP00000296474:p.Glu1121*					MST1R_uc011bdc.1_5'UTR	p.E1121*	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	16	3625	-			1121			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	ENST00000296474.3	37	c.3361G>T	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	41|41	8.598348|8.598348	0.98879|0.98879	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000434765;ENST00000440292	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.185253|.	0.56097|.	D|.	0.000033|.	.|T	.|0.75012	.|0.3792	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73329	.|-0.4017	.|3	0.72032|.	D|.	0.01|.	-12.6453|-12.6453	18.869|18.869	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	1121;1072|98;141	.|.	ENSP00000296474:E1121X|.	E|Q	-|-	1|3	0|2	MST1R|MST1R	49904009|49904009	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.972000|0.972000	0.66771|0.66771	7.500000|7.500000	0.81588|0.81588	2.697000|2.697000	0.92050|0.92050	0.638000|0.638000	0.83543|0.83543	GAG|CAG		0.582	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				32	32	1	0	2.42023e-17	0.059317	2.81699e-17	32	32		
SENP7	57337	broad.mit.edu	37	3	101085458	101085458	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:101085458C>G	ENST00000394095.2	-	9	1187	c.1134G>C	c.(1132-1134)ttG>ttC	p.L378F	SENP7_ENST00000358203.3_Missense_Mutation_p.L214F|SENP7_ENST00000314261.7_Missense_Mutation_p.L312F|SENP7_ENST00000348610.3_Missense_Mutation_p.L345F|SENP7_ENST00000394094.2_Missense_Mutation_p.L313F|SENP7_ENST00000394091.1_Missense_Mutation_p.L214F	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	378						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L312F(1)|p.L378F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCATTACTCAAAGTCAACT	0.403																																						uc003dut.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(2)	5						c.(1132-1134)TTG>TTC		sentrin/SUMO-specific protease 7 isoform 1							117.0	114.0	115.0					3																	101085458		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101085458C>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1134G>C	3.37:g.101085458C>G	ENSP00000377655:p.Leu378Phe					SENP7_uc003duu.2_Missense_Mutation_p.L313F|SENP7_uc003duv.2_Missense_Mutation_p.L345F|SENP7_uc003duw.2_Missense_Mutation_p.L312F|SENP7_uc003dux.2_Missense_Mutation_p.L214F	p.L378F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			9	1245	-			378					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.1134G>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	0.486	-0.877409	0.02550	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.19938	2.11;2.11;2.12;2.11;2.11;2.11	5.77	0.575	0.17374	.	1.168410	0.06198	N	0.682640	T	0.12774	0.0310	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.14012	0.007;0.007;0.009;0.004	B;B;B;B	0.18561	0.004;0.016;0.022;0.003	T	0.35895	-0.9770	10	0.20046	T	0.44	1.9063	2.5784	0.04812	0.142:0.438:0.2607:0.1593	.	214;312;345;378	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	F	378;313;312;214;214;345	ENSP00000377655:L378F;ENSP00000377654:L313F;ENSP00000313624:L312F;ENSP00000377651:L214F;ENSP00000350936:L214F;ENSP00000342159:L345F	ENSP00000313624:L312F	L	-	3	2	SENP7	102568148	0.016000	0.18221	0.033000	0.17914	0.006000	0.05464	0.075000	0.14686	0.101000	0.17610	-0.150000	0.13652	TTG		0.403	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2		NM_020654		34	41	0	0	0	0.074837	0	34	41		
ZBTB11	27107	broad.mit.edu	37	3	101370486	101370486	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:101370486C>T	ENST00000312938.4	-	11	3266	c.2686G>A	c.(2686-2688)Gct>Act	p.A896T		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	896					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A896T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGGCATCAGCCCAAGCTACT	0.418																																						uc003dve.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2686-2688)GCT>ACT		zinc finger protein ZNF-U69274							78.0	78.0	78.0					3																	101370486		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370486C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2686G>A	3.37:g.101370486C>T	ENSP00000326200:p.Ala896Thr						p.A896T	NM_014415	NP_055230	O95625	ZBT11_HUMAN			11	2916	-			896			C2H2-type 11.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2686G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777420	0.90195	.	.	ENSG00000066422	ENST00000312938	T	0.07688	3.17	5.81	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	N	0.11284	0.12	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.45131	-0.9282	10	0.29301	T	0.29	-14.4133	14.628	0.68635	0.0:0.9306:0.0:0.0694	.	896	O95625	ZBT11_HUMAN	T	896	ENSP00000326200:A896T	ENSP00000326200:A896T	A	-	1	0	ZBTB11	102853176	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.434000	0.80377	1.467000	0.48044	0.555000	0.69702	GCT		0.418	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2		NM_014415		34	37	0	0	0	0.064281	0	34	37		
EPHB3	2049	broad.mit.edu	37	3	184295484	184295484	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:184295484C>T	ENST00000330394.2	+	7	1970	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	506	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.N506N(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCAGATGAACTCCGTGCAGC	0.657																																						uc003foz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1516-1518)AAC>AAT		ephrin receptor EphB3 precursor							69.0	73.0	71.0					3																	184295484		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295484C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1518C>T	3.37:g.184295484C>T							p.N506N	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		7	1955	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		506			Fibronectin type-III 2.|Extracellular (Potential).		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1518C>T	CCDS3268.1																																																																																				0.657	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1		NM_004443		37	42	0	0	0	0.080422	0	37	42		
TACC3	10460	broad.mit.edu	37	4	1746708	1746708	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:1746708G>A	ENST00000313288.4	+	16	2591	c.2485G>A	c.(2485-2487)Gac>Aac	p.D829N		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	829					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D829N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGATCTGCGACGACCTCAT	0.597																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2485-2487)GAC>AAC		transforming, acidic coiled-coil containing							37.0	33.0	34.0					4																	1746708		2200	4299	6499	SO:0001583	missense	10460					centrosome		g.chr4:1746708G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2485G>A	4.37:g.1746708G>A	ENSP00000326550:p.Asp829Asn					TACC3_uc003gdp.2_Missense_Mutation_p.D469N|TACC3_uc010ica.2_Missense_Mutation_p.D250N	p.D829N	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		16	2593	+		Breast(71;0.212)|all_epithelial(65;0.241)	829			Potential.		Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.2485G>A	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186022	0.94885	.	.	ENSG00000013810	ENST00000313288	T	0.54675	0.56	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000035	T	0.79155	0.4398	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	D	0.83807	0.0239	10	0.87932	D	0	-41.2718	18.5383	0.91018	0.0:0.0:1.0:0.0	.	829;829	Q2NKK4;Q9Y6A5	.;TACC3_HUMAN	N	829	ENSP00000326550:D829N	ENSP00000326550:D829N	D	+	1	0	TACC3	1716506	1.000000	0.71417	0.985000	0.45067	0.681000	0.39784	5.784000	0.68990	2.713000	0.92767	0.655000	0.94253	GAC		0.597	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				80	5	0	0	0	0.048971	0	80	5		
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230916	77230916	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:77230916C>T	ENST00000237642.6	+	2	1584	c.840C>T	c.(838-840)ttC>ttT	p.F280F	FAM47E-STBD1_ENST00000539752.1_Silent_p.F131F|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough									p.F280F(1)									ATGTGCAATTCATTGCAGTAA	0.473																																						uc003hka.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(838-840)TTC>TTT		starch binding domain 1							186.0	156.0	166.0					4																	77230916		2203	4300	6503	SO:0001819	synonymous_variant	8987				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	g.chr4:77230916C>T		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.840C>T	4.37:g.77230916C>T						STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.F131F	p.F280F	NM_003943	NP_003934	O95210	STBD1_HUMAN	Lung(101;0.196)		2	1086	+			280			CBM20.|Cytoplasmic (Potential).			Silent	SNP	ENST00000237642.6	37	c.840C>T	CCDS3578.1																																																																																				0.473	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2				21	25	0	0	0	0.069288	0	21	25		
HMGB2	3148	broad.mit.edu	37	4	174254073	174254073	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:174254073C>G	ENST00000296503.5	-	4	1243	c.370G>C	c.(370-372)Gat>Cat	p.D124H	HMGB2_ENST00000446922.2_Missense_Mutation_p.D124H|HMGB2_ENST00000438704.2_Missense_Mutation_p.D124H			P26583	HMGB2_HUMAN	high mobility group box 2	124					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.D124H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTGCAGTATCCCCAATGGAT	0.408																																						uc011ckc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(370-372)GAT>CAT		high-mobility group box 2							161.0	166.0	165.0					4																	174254073		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254073C>G		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.370G>C	4.37:g.174254073C>G	ENSP00000296503:p.Asp124His					HMGB2_uc003ita.3_Missense_Mutation_p.D124H|HMGB2_uc003itb.2_Missense_Mutation_p.D124H|HMGB2_uc003itc.2_3'UTR	p.D124H	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	3	490	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	124			HMG box 2.		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.370G>C	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750893	0.69533	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.06	4.21	0.49690	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000002	D	0.97548	0.9197	M	0.93420	3.415	0.80722	D	1	P	0.36647	0.563	P	0.54856	0.762	D	0.98385	1.0560	10	0.87932	D	0	.	13.3332	0.60500	0.0:0.9242:0.0:0.0758	.	124	P26583	HMGB2_HUMAN	H	124	ENSP00000296503:D124H;ENSP00000393448:D124H;ENSP00000404912:D124H;ENSP00000423001:D124H	ENSP00000296503:D124H	D	-	1	0	HMGB2	174490648	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.416000	0.80143	1.350000	0.45770	0.563000	0.77884	GAT		0.408	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1		NM_001130688		76	104	0	0	0	0.048971	0	76	104		
PPIC	5480	broad.mit.edu	37	5	122359598	122359598	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:122359598G>A	ENST00000306442.4	-	5	726	c.611C>T	c.(610-612)cCt>cTt	p.P204L	RN7SL689P_ENST00000577215.1_RNA	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	204					protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.P204L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AACCACAAAAGGCGTTTTCAC	0.498																																					Ovarian(99;690 1502 20765 45543 49568)	uc003kth.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(610-612)CCT>CTT		peptidylprolyl isomerase C	L-Proline(DB00172)						258.0	233.0	241.0					5																	122359598		2203	4300	6503	SO:0001583	missense	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122359598G>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.611C>T	5.37:g.122359598G>A	ENSP00000303057:p.Pro204Leu						p.P204L	NM_000943	NP_000934	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	5	716	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	204					A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.611C>T	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133493	0.94517	.	.	ENSG00000168938	ENST00000306442	T	0.35973	1.28	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73442	-0.3981	10	0.87932	D	0	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	204	P45877	PPIC_HUMAN	L	204	ENSP00000303057:P204L	ENSP00000303057:P204L	P	-	2	0	PPIC	122387497	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.302000	0.96175	2.814000	0.96858	0.655000	0.94253	CCT		0.498	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2		NM_000943		134	76	0	0	0	0.048971	0	134	76		
SEPT8	23176	broad.mit.edu	37	5	132100049	132100049	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:132100049C>T	ENST00000378719.2	-	3	451	c.214G>A	c.(214-216)Gag>Aag	p.E72K	SEPT8_ENST00000378701.1_Missense_Mutation_p.E72K|SEPT8_ENST00000378721.4_Missense_Mutation_p.E72K|SEPT8_ENST00000296873.7_Missense_Mutation_p.E72K|SEPT8_ENST00000378706.1_Missense_Mutation_p.E72K|SEPT8_ENST00000458488.2_Missense_Mutation_p.E72K|SEPT8_ENST00000448933.1_Missense_Mutation_p.E12K|SEPT8_ENST00000378699.2_Missense_Mutation_p.E12K	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	72	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E72K(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGCTTCCTCAGTCTCGAAG	0.582																																						uc003kxr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(214-216)GAG>AAG		septin 8 isoform a							82.0	92.0	88.0					5																	132100049		2158	4270	6428	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132100049C>T	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.214G>A	5.37:g.132100049C>T	ENSP00000367991:p.Glu72Lys					SEPT8_uc003kxs.1_Missense_Mutation_p.E72K|SEPT8_uc003kxu.2_Missense_Mutation_p.E72K|SEPT8_uc011cxi.1_Missense_Mutation_p.E72K|SEPT8_uc003kxv.2_Missense_Mutation_p.E72K|SEPT8_uc003kxt.2_Missense_Mutation_p.E12K	p.E72K	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	452	-		all_cancers(142;0.0751)|Breast(839;0.198)	72					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.214G>A	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109110	0.56398	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488;ENST00000453480;ENST00000414594;ENST00000371493	T;T;T;T;T;T;T;T;T;T;T	0.51817	1.33;1.33;1.33;0.69;1.33;0.69;1.33;1.33;0.69;0.69;0.69	4.77	4.77	0.60923	.	0.054628	0.64402	D	0.000001	T	0.52725	0.1752	N	0.20685	0.6	0.80722	D	1	D;D;B;D	0.89917	0.999;1.0;0.02;1.0	D;D;B;D	0.87578	0.997;0.998;0.012;0.998	T	0.46843	-0.9162	10	0.15499	T	0.54	.	17.808	0.88607	0.0:1.0:0.0:0.0	.	72;72;72;72	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	K	72;72;72;12;72;12;72;72;12;12;12	ENSP00000367991:E72K;ENSP00000367993:E72K;ENSP00000296873:E72K;ENSP00000399840:E12K;ENSP00000367978:E72K;ENSP00000367971:E12K;ENSP00000367973:E72K;ENSP00000394766:E72K;ENSP00000407421:E12K;ENSP00000411823:E12K;ENSP00000360548:E12K	ENSP00000296873:E72K	E	-	1	0	SEPT8	132127948	1.000000	0.71417	0.855000	0.33649	0.977000	0.68977	7.487000	0.81328	2.196000	0.70406	0.467000	0.42956	GAG		0.582	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2		XM_034872		21	11	0	0	0	0.076483	0	21	11		
LECT2	3950	broad.mit.edu	37	5	135273129	135273129	+	Intron	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:135273129G>C	ENST00000522943.1	-	3	418				FBXL21_ENST00000297158.9_RNA|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_5'Flank			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.E128Q(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGTAGCGCTGAGTCAGCAGA	0.378																																						uc010jec.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(382-384)GAG>CAG		F-box and leucine-rich repeat protein 21							74.0	73.0	73.0					5																	135273129		1873	4115	5988	SO:0001627	intron_variant	26223				rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr5:135273129G>C	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.289+13782C>G	5.37:g.135273129G>C						FBXL21_uc003lbc.2_RNA	p.E128Q	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	403	+			128					B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000522943.1	37	c.382G>C																																																																																					0.378	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1		NM_002302		12	38	0	0	0	0.080935	0	12	38		
PCDHAC1	56135	broad.mit.edu	37	5	140306671	140306671	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:140306671A>G	ENST00000253807.2	+	1	194	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.Y65C	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y65C(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCTCTACTTCGGGGTG	0.637																																						uc003lih.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(193-195)TAC>TGC		protocadherin alpha subfamily C, 1 isoform 1							45.0	50.0	48.0					5																	140306671		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140306671A>G	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.194A>G	5.37:g.140306671A>G	ENSP00000253807:p.Tyr65Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.Y65C	p.Y65C	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	370	+			65			Cadherin 1.|Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.194A>G	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630408	0.46944	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.31247	1.5;1.5	5.29	5.29	0.74685	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.65760	0.2722	M	0.92122	3.275	0.27701	N	0.945803	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.973	T	0.66575	-0.5889	9	0.87932	D	0	.	15.2222	0.73320	1.0:0.0:0.0:0.0	.	65;65	Q9H158;Q9H158-2	PCDC1_HUMAN;.	C	65	ENSP00000386356:Y65C;ENSP00000253807:Y65C	ENSP00000253807:Y65C	Y	+	2	0	PCDHAC1	140286855	0.998000	0.40836	0.943000	0.38184	0.032000	0.12392	2.144000	0.42197	1.991000	0.58162	0.459000	0.35465	TAC		0.637	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1		NM_018898		29	12	0	0	0	0.045705	0	29	12		
HIST1H2BA	255626	broad.mit.edu	37	6	25727255	25727255	+	Missense_Mutation	SNP	C	C	G	rs199691595		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:25727255C>G	ENST00000274764.2	+	1	119	c.119C>G	c.(118-120)tCt>tGt	p.S40C	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	40					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S40C(1)		breast(1)|kidney(1)	2						GAGAGTTATTCTATTTACATC	0.428																																						uc003nfd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(118-120)TCT>TGT		histone cluster 1, H2ba							343.0	284.0	304.0					6																	25727255		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727255C>G	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.119C>G	6.37:g.25727255C>G	ENSP00000274764:p.Ser40Cys					HIST1H2AA_uc003nfc.2_5'Flank	p.S40C	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN			1	119	+			40					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.119C>G	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	9.848	1.192884	0.21954	.	.	ENSG00000146047	ENST00000274764	T	0.69926	-0.44	2.85	2.85	0.33270	Histone-fold (2);Histone core (1);	0.096974	0.41938	D	0.000798	T	0.67230	0.2871	H	0.95780	3.72	0.52501	D	0.99995	B	0.09022	0.002	B	0.11329	0.006	T	0.77638	-0.2513	10	0.87932	D	0	.	13.4305	0.61053	0.0:1.0:0.0:0.0	.	40	Q96A08	H2B1A_HUMAN	C	40	ENSP00000274764:S40C	ENSP00000274764:S40C	S	+	2	0	HIST1H2BA	25835234	1.000000	0.71417	0.026000	0.17262	0.012000	0.07955	5.669000	0.68081	1.910000	0.55303	0.579000	0.79373	TCT		0.428	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1		NM_170610		38	20	0	0	0	0.080422	0	38	20		
OR2H2	7932	broad.mit.edu	37	6	29556637	29556637	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:29556637G>C	ENST00000383640.2	+	1	955	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	306					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E306Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTGGGGAAGGAAATGGGGCT	0.478																																						uc003nmr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(916-918)GAA>CAA		olfactory receptor, family 2, subfamily H,							49.0	54.0	52.0					6																	29556637		1509	2709	4218	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556637G>C		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.916G>C	6.37:g.29556637G>C	ENSP00000373136:p.Glu306Gln					GABBR1_uc003nmp.3_Intron	p.E306Q	NM_007160	NP_009091	O95918	OR2H2_HUMAN			1	955	+			306			Cytoplasmic (Potential).		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.916G>C	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611620	0.14066	.	.	ENSG00000204657	ENST00000383640	T	0.09163	3.01	4.31	0.026	0.14148	.	1.913740	0.02900	N	0.135351	T	0.01523	0.0049	N	0.11064	0.09	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.42732	-0.9434	10	0.32370	T	0.25	.	2.7132	0.05180	0.4205:0.0:0.3713:0.2082	.	306	O95918	OR2H2_HUMAN	Q	306	ENSP00000373136:E306Q	ENSP00000373136:E306Q	E	+	1	0	OR2H2	29664616	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.346000	0.19997	0.089000	0.17243	-0.229000	0.12294	GAA		0.478	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2				18	27	0	0	0	0.0333	0	18	27		
HLA-A	3105	broad.mit.edu	37	6	29913231	29913231	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:29913231G>T	ENST00000396634.1	+	10	1438	c.1097G>T	c.(1096-1098)tGa>tTa	p.*366L	HLA-A_ENST00000376809.5_Nonstop_Mutation_p.*366L|HLA-A_ENST00000376806.5_Nonstop_Mutation_p.*372L|HLA-A_ENST00000376802.2_Nonstop_Mutation_p.*300L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	0					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.*366L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTATAGTGTGAGACAGCTGC	0.448									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1096-1098)TGA>TTA		major histocompatibility complex, class I, A							80.0	91.0	87.0					6																	29913231		1511	2709	4220	SO:0001578	stop_lost	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29913231G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.1097G>T	6.37:g.29913231G>T	ENSP00000379873:p.*366Leuext*8	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_Nonstop_Mutation_p.*372L|HLA-A_uc003noo.2_Nonsense_Mutation_p.E367*|HLA-A_uc010jrr.2_Nonstop_Mutation_p.*300L|HLA-A_uc003nom.2_Nonsense_Mutation_p.E244*|HLA-A_uc011dmc.1_Nonstop_Mutation_p.*245L|HLA-A_uc011dmd.1_3'UTR	p.*366L	NM_002116	NP_002107	P30443	1A01_HUMAN			8	1097	+			366					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonstop_Mutation	SNP	ENST00000396634.1	37	c.1097G>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.857989	0.32791	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	.	.	.	3.17	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7448	0.23456	0.1405:0.0:0.8595:0.0	.	.	.	.	L	366;372;115;366;300	.	.	X	+	2	2	HLA-A	30021210	0.018000	0.18449	0.401000	0.26359	0.629000	0.37895	0.635000	0.24629	0.652000	0.30806	0.485000	0.47835	TGA		0.448	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		14	37	1	0	2.35188e-11	0.038395	2.60912e-11	14	37		
PRRC2A	7916	broad.mit.edu	37	6	31597445	31597445	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:31597445C>A	ENST00000376033.2	+	14	2311	c.2077C>A	c.(2077-2079)Cca>Aca	p.P693T	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P693T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	693	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P693T(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGTGCCAGCTCCACAGGCTCC	0.667																																						uc003nvb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2077-2079)CCA>ACA		HLA-B associated transcript-2							20.0	26.0	24.0					6																	31597445		2125	4150	6275	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31597445C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2077C>A	6.37:g.31597445C>A	ENSP00000365201:p.Pro693Thr					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P693T	p.P693T	NM_080686	NP_542417	P48634	PRC2A_HUMAN			14	2326	+			693			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2077C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715355	0.48622	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01947	4.54;4.54	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000027	T	0.07234	0.0183	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.09574	-1.0668	10	0.87932	D	0	-7.9054	18.1718	0.89747	0.0:1.0:0.0:0.0	.	693	P48634	PRC2A_HUMAN	T	693;682;693;693	ENSP00000365175:P693T;ENSP00000365201:P693T	ENSP00000365175:P693T	P	+	1	0	PRRC2A	31705424	0.991000	0.36638	1.000000	0.80357	0.988000	0.76386	2.630000	0.46494	2.829000	0.97493	0.655000	0.94253	CCA		0.667	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		25	41	1	0	7.92952e-12	0.0918	8.93645e-12	25	41		
GSTA2	2939	broad.mit.edu	37	6	52615381	52615381	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:52615381C>A	ENST00000493422.1	-	7	818	c.663G>T	c.(661-663)agG>agT	p.R221S		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	221					epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.R221S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TTTATTAAAACCTGAAAATCT	0.413																																						uc003pay.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(661-663)AGG>AGT		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						109.0	109.0	109.0					6																	52615381		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52615381C>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.663G>T	6.37:g.52615381C>A	ENSP00000420168:p.Arg221Ser						p.R221S	NM_000846	NP_000837	P09210	GSTA2_HUMAN			7	813	-	Lung NSC(77;0.118)		221					Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.663G>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	6.972	0.549257	0.13374	.	.	ENSG00000244067	ENST00000493422	T	0.01572	4.76	2.32	-2.91	0.05631	Glutathione S-transferase, C-terminal-like (1);	1.985470	0.02320	N	0.072896	T	0.00496	0.0016	N	0.25144	0.715	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.48681	-0.9014	10	0.66056	D	0.02	.	3.5923	0.07993	0.0:0.3956:0.1976:0.4068	.	221	P09210	GSTA2_HUMAN	S	221	ENSP00000420168:R221S	ENSP00000420168:R221S	R	-	3	2	GSTA2	52723340	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.552000	0.06020	-1.019000	0.03358	-0.706000	0.03657	AGG		0.413	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1		NM_000846		7	84	1	0	0.000442599	0.058154	0.000462126	7	84		
COL12A1	1303	broad.mit.edu	37	6	75884895	75884895	+	Missense_Mutation	SNP	G	G	T	rs201662983		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:75884895G>T	ENST00000322507.8	-	13	2878	c.2569C>A	c.(2569-2571)Caa>Aaa	p.Q857K	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q857K|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q857K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	857	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.Q857K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGACCTCTTGAGTTTCACCC	0.498																																						uc003phs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(2569-2571)CAA>AAA		collagen, type XII, alpha 1 long isoform							218.0	218.0	218.0					6																	75884895		1966	4139	6105	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884895G>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2569C>A	6.37:g.75884895G>T	ENSP00000325146:p.Gln857Lys					COL12A1_uc003pht.2_Intron	p.Q857K	NM_004370	NP_004361	Q99715	COCA1_HUMAN			13	2735	-			857			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2569C>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	4.392	0.072352	0.08436	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56611	0.45;0.45;0.45	5.79	4.9	0.64082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.189292	0.35207	N	0.003365	T	0.06371	0.0164	N	0.01168	-0.975	0.29986	N	0.817334	B	0.02656	0.0	B	0.01281	0.0	T	0.29488	-1.0010	10	0.02654	T	1	.	9.5673	0.39407	0.0:0.1157:0.6116:0.2727	.	857	Q99715	COCA1_HUMAN	K	857	ENSP00000325146:Q857K;ENSP00000412864:Q857K;ENSP00000421216:Q857K	ENSP00000325146:Q857K	Q	-	1	0	COL12A1	75941615	1.000000	0.71417	0.963000	0.40424	0.941000	0.58515	3.788000	0.55446	1.407000	0.46875	0.557000	0.71058	CAA		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		NM_004370		71	109	1	0	5.41189e-41	0.048971	6.6249e-41	71	109		
KPNA5	3841	broad.mit.edu	37	6	117053364	117053364	+	Missense_Mutation	SNP	C	C	G	rs557995008		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:117053364C>G	ENST00000368564.1	+	14	1646	c.1498C>G	c.(1498-1500)Ctg>Gtg	p.L500V	KPNA5_ENST00000356348.1_Missense_Mutation_p.L500V			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	497					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.L500V(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GGCATTTGATCTGATTGAACA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		11241	0.001		0.0	False		,,,				2504	0.0					uc003pxh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|skin(1)	4						c.(1498-1500)CTG>GTG		karyopherin alpha 5							81.0	81.0	81.0					6																	117053364		2203	4300	6503	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117053364C>G	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1498C>G	6.37:g.117053364C>G	ENSP00000357552:p.Leu500Val						p.L500V	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	14	1629	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	497			ARM 10; atypical.		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.1498C>G	CCDS5111.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.01|13.01	2.110262|2.110262	0.37242|0.37242	.|.	.|.	ENSG00000196911|ENSG00000196911	ENST00000368564;ENST00000356348|ENST00000392517	T;T|.	0.31769|.	1.48;1.48|.	5.73|5.73	3.96|3.96	0.45880|0.45880	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.099955|.	0.41097|.	D|.	0.000941|.	T|T	0.49133|0.49133	0.1539|0.1539	M|M	0.80422|0.80422	2.495|2.495	0.32360|0.32360	N|N	0.55727|0.55727	B|.	0.17268|.	0.021|.	B|.	0.16289|.	0.015|.	T|T	0.52682|0.52682	-0.8543|-0.8543	10|5	0.66056|.	D|.	0.02|.	.|.	8.4331|8.4331	0.32771|0.32771	0.0:0.7084:0.0:0.2916|0.0:0.7084:0.0:0.2916	.|.	497|.	O15131|.	IMA5_HUMAN|.	V|C	500|82	ENSP00000357552:L500V;ENSP00000348704:L500V|.	ENSP00000348704:L500V|.	L|S	+|+	1|2	2|0	KPNA5|KPNA5	117160057|117160057	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.453000|1.453000	0.35167|0.35167	0.773000|0.773000	0.33404|0.33404	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.343	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1		NM_002269		33	40	0	0	0	0.086207	0	33	40		
FZD1	8321	broad.mit.edu	37	7	90895308	90895308	+	Silent	SNP	C	C	T	rs202150739	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:90895308C>T	ENST00000287934.2	+	1	1526	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	371					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A371A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTACATCGCCGGCTTCCTCC	0.632													C|||	7	0.00139776	0.0008	0.0	5008	,	,		19614	0.005		0.0	False		,,,				2504	0.001					uc003ula.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1111-1113)GCC>GCT		frizzled 1 precursor		C		1,4405	2.1+/-5.4	0,1,2202	68.0	70.0	69.0		1113	0.6	1.0	7		69	0,8600		0,0,4300	no	coding-synonymous	FZD1	NM_003505.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		371/648	90895308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895308C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1113C>T	7.37:g.90895308C>T							p.A371A	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1526	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		371			Helical; Name=2; (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1113C>T	CCDS5620.1																																																																																				0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2		NM_003505		29	64	0	0	0	0.041601	0	29	64		
DOCK4	9732	broad.mit.edu	37	7	111379265	111379265	+	Silent	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:111379265G>T	ENST00000437633.1	-	48	5386	c.5130C>A	c.(5128-5130)tcC>tcA	p.S1710S	DOCK4_ENST00000494651.2_Silent_p.S593S|DOCK4_ENST00000428084.1_Silent_p.S1719S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1710	Ser-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.S1707S(1)|p.S1710S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGTTTTCTCGGGAATGTTTGT	0.502																																						uc003vfx.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(5128-5130)TCC>TCA		dedicator of cytokinesis 4							181.0	181.0	181.0					7																	111379265		1977	4175	6152	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111379265G>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5130C>A	7.37:g.111379265G>T						DOCK4_uc011kml.1_Silent_p.S591S|DOCK4_uc011kmm.1_Silent_p.S617S|DOCK4_uc003vfw.2_Silent_p.S1160S|DOCK4_uc003vfy.2_Silent_p.S1755S|DOCK4_uc003vfv.2_Silent_p.S23S	p.S1710S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			48	5399	-		Acute lymphoblastic leukemia(1;0.0441)	1710			Ser-rich.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.5130C>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404414	0.25378	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.77075	0.4077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73990	-0.3808	4	.	.	.	.	20.3712	0.98891	0.0:0.0:1.0:0.0	.	.	.	.	H	1171;1743	.	.	P	-	2	0	DOCK4	111166501	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.264000	0.78432	2.822000	0.97130	0.655000	0.94253	CCC		0.502	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		6	74	1	0	0.00448238	0.047766	0.00464597	6	74		
NAT1	9	broad.mit.edu	37	8	18080042	18080042	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:18080042C>G	ENST00000517492.1	+	3	1124	c.486C>G	c.(484-486)gaC>gaG	p.D162E	NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.D224E|NAT1_ENST00000520546.1_Missense_Mutation_p.D162E|NAT1_ENST00000307719.4_Missense_Mutation_p.D162E|NAT1_ENST00000541942.1_Missense_Mutation_p.D162E|NAT1_ENST00000518029.1_Missense_Mutation_p.D162E|NAT1_ENST00000539092.1_Missense_Mutation_p.D162E|NAT1_ENST00000535084.1_Missense_Mutation_p.D162E			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	166					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.D224E(1)|p.D162E(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGTATCTAGACCAAATCAGAA	0.428																																						uc010ltd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(484-486)GAC>GAG		N-acetyltransferase 1 isoform a							87.0	88.0	87.0					8																	18080042		2203	4300	6503	SO:0001583	missense	9				xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18080042C>G	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.486C>G	8.37:g.18080042C>G	ENSP00000429407:p.Asp162Glu					NAT1_uc003wyt.2_Missense_Mutation_p.D224E|NAT1_uc003wyu.2_Missense_Mutation_p.D162E|NAT1_uc003wyv.2_Missense_Mutation_p.D162E|NAT1_uc010ltc.2_Missense_Mutation_p.D162E|NAT1_uc003wys.2_Missense_Mutation_p.D224E|NAT1_uc003wyr.2_Missense_Mutation_p.D162E|NAT1_uc003wyq.2_Missense_Mutation_p.D162E|NAT1_uc011kyl.1_Missense_Mutation_p.D162E	p.D162E	NM_001160179	NP_001153651	P18440	ARY1_HUMAN		Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)	5	853	+			162					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000517492.1	37	c.486C>G	CCDS6007.1	.	.	.	.	.	.	.	.	.	.	.	0.093	-1.164320	0.01673	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.01406	4.93;4.93;4.93;4.93;4.93;4.93;4.93;4.93	4.35	0.401	0.16338	.	0.124943	0.53938	D	0.000053	T	0.00754	0.0025	N	0.11284	0.12	0.28814	N	0.898089	B;B	0.16396	0.017;0.002	B;B	0.16722	0.016;0.009	T	0.48258	-0.9051	10	0.02654	T	1	.	7.4782	0.27390	0.0:0.6009:0.0:0.3991	.	224;162	F5H5R8;P18440	.;ARY1_HUMAN	E	162;162;224;162;162;162;162;162	ENSP00000444609:D162E;ENSP00000307218:D162E;ENSP00000443194:D224E;ENSP00000440434:D162E;ENSP00000440900:D162E;ENSP00000428270:D162E;ENSP00000429407:D162E;ENSP00000429341:D162E	ENSP00000307218:D162E	D	+	3	2	NAT1	18124322	1.000000	0.71417	0.998000	0.56505	0.462000	0.32619	1.056000	0.30480	0.077000	0.16863	0.460000	0.39030	GAC		0.428	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1		NM_000662		39	54	0	0	0	0.092188	0	39	54		
DENND3	22898	broad.mit.edu	37	8	142151335	142151335	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:142151335C>T	ENST00000262585.2	+	4	573	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	DENND3_ENST00000518347.1_Missense_Mutation_p.R179W|DENND3_ENST00000424248.1_Missense_Mutation_p.R99W|DENND3_ENST00000519811.1_Missense_Mutation_p.R179W	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	99					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R99W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAAACGCACCGGGAGTGTCC	0.537																																						uc003yvy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(295-297)CGG>TGG		DENN/MADD domain containing 3							165.0	124.0	138.0					8																	142151335		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142151335C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.295C>T	8.37:g.142151335C>T	ENSP00000262585:p.Arg99Trp					DENND3_uc003yvw.1_Missense_Mutation_p.R112W|DENND3_uc003yvx.2_Silent_p.T177T|DENND3_uc010mep.2_Missense_Mutation_p.R112W	p.R99W	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		4	573	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		99					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.295C>T	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.892|6.892	0.533985|0.533985	0.13188|0.13188	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058;ENST00000518249	.|T;T;T;T	.|0.44881	.|2.8;2.39;2.8;0.91	5.24|5.24	-0.0687|-0.0687	0.13755|0.13755	.|.	.|0.507224	.|0.22589	.|N	.|0.058102	T|T	0.09686|0.09686	0.0238|0.0238	N|N	0.00210|0.00210	-1.845|-1.845	0.19300|0.19300	N|N	0.99997|0.99997	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.34750|0.34750	-0.9816|-0.9816	5|10	.|0.56958	.|D	.|0.05	-29.572|-29.572	5.9338|5.9338	0.19154|0.19154	0.0:0.2075:0.1274:0.6651|0.0:0.2075:0.1274:0.6651	.|.	.|179;99;179	.|E9PF32;A2RUS2;E5RIR7	.|.;DEND3_HUMAN;.	L|W	155|112;179;99;99;179;179;12	.|ENSP00000262585:R99W;ENSP00000410594:R99W;ENSP00000428714:R179W;ENSP00000430786:R179W	.|ENSP00000262585:R99W	P|R	+|+	2|1	0|2	DENND3|DENND3	142220517|142220517	0.731000|0.731000	0.28111|0.28111	0.453000|0.453000	0.27007|0.27007	0.052000|0.052000	0.14988|0.14988	0.764000|0.764000	0.26532|0.26532	-0.251000|-0.251000	0.09542|0.09542	-0.285000|-0.285000	0.09966|0.09966	CCG|CGG		0.537	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014957		5	57	0	0	0	0.014758	0	5	57		
ARHGAP39	80728	broad.mit.edu	37	8	145773665	145773665	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:145773665C>T	ENST00000276826.5	-	4	1006	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E269K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E269K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	269	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E269K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCCTCCTCTCTGGGAAGAAG	0.716																																						uc003zdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(805-807)GAG>AAG		KIAA1688 protein							18.0	20.0	20.0					8																	145773665		2193	4295	6488	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773665C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.805G>A	8.37:g.145773665C>T	ENSP00000276826:p.Glu269Lys					ARHGAP39_uc011llk.1_Missense_Mutation_p.E269K|ARHGAP39_uc003zds.1_Missense_Mutation_p.E269K	p.E269K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	1360	-			269			Pro-rich.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.805G>A		.	.	.	.	.	.	.	.	.	.	C	17.28	3.349437	0.61183	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.69175	-0.38;-0.11;-0.38	4.89	4.89	0.63831	.	0.130292	0.49305	D	0.000158	T	0.57636	0.2067	L	0.47716	1.5	0.48762	D	0.999702	P;P	0.36465	0.546;0.554	B;B	0.26770	0.073;0.073	T	0.65265	-0.6210	10	0.72032	D	0.01	-3.8092	15.8935	0.79318	0.0:1.0:0.0:0.0	.	269;269	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	269	ENSP00000276826:E269K;ENSP00000366522:E269K;ENSP00000445075:E269K	ENSP00000276826:E269K	E	-	1	0	ARHGAP39	145744473	.	.	0.937000	0.37676	0.893000	0.52053	.	.	2.414000	0.81942	0.655000	0.94253	GAG		0.716	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1				6	4	0	0	0	0.021553	0	6	4		
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)		lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	lung(2)|ovary(1)	3						c.(502-504)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V	p.S168S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	763	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		12	892	0	0	0	0.069288	0	12	892		
ALDH1B1	219	broad.mit.edu	37	9	38396624	38396624	+	Silent	SNP	C	C	T	rs141592792		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:38396624C>T	ENST00000377698.3	+	2	1032	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	293					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.I293I(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GCCCCAGCATCGTGCTGGCCG	0.617																																						uc004aay.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(877-879)ATC>ATT		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)	C		0,4406		0,0,2203	46.0	45.0	45.0		879	-2.0	0.5	9	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALDH1B1	NM_000692.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		293/518	38396624	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396624C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.879C>T	9.37:g.38396624C>T							p.I293I	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	991	+			293					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.879C>T	CCDS6615.1																																																																																				0.617	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1				26	33	0	0	0	0.108266	0	26	33		
FKBP15	23307	broad.mit.edu	37	9	115936807	115936807	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:115936807C>G	ENST00000238256.3	-	22	2397	c.2280G>C	c.(2278-2280)gaG>gaC	p.E760D		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	760					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.E760D(1)|p.E785D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTTCATCTATCTCCTCCTCGG	0.468																																						uc004bgs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)	3						c.(2278-2280)GAG>GAC		FK506 binding protein 15, 133kDa							155.0	149.0	151.0					9																	115936807		1914	4123	6037	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115936807C>G	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2280G>C	9.37:g.115936807C>G	ENSP00000238256:p.Glu760Asp					FKBP15_uc004bgr.2_Missense_Mutation_p.E197D|FKBP15_uc011lxc.1_Missense_Mutation_p.E341D|FKBP15_uc011lxd.1_Missense_Mutation_p.E692D	p.E760D	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			22	2398	-			760			Potential.		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.2280G>C	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158619	0.78226	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.34072	1.38;1.39	6.07	4.25	0.50352	.	.	.	.	.	T	0.57110	0.2031	M	0.74881	2.28	0.23649	N	0.997202	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.47947	-0.9077	9	0.72032	D	0.01	-22.8929	8.1169	0.30948	0.0:0.7597:0.0:0.2403	.	341;760	B4DVS2;Q5T1M5	.;FKB15_HUMAN	D	785;760	ENSP00000416158:E785D;ENSP00000238256:E760D	ENSP00000238256:E760D	E	-	3	2	FKBP15	114976628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.843000	0.27640	0.912000	0.36772	0.586000	0.80456	GAG		0.468	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015258		59	15	0	0	0	0.048971	0	59	15		
TLR4	7099	broad.mit.edu	37	9	120475702	120475702	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:120475702C>T	ENST00000355622.6	+	3	1397	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	TLR4_ENST00000394487.4_Silent_p.S392S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	432					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S432S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TCCAGCATTCCAATTTGAAAC	0.378																																						uc004bjz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1294-1296)TCC>TCT		toll-like receptor 4 precursor							72.0	72.0	72.0					9																	120475702		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475702C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1296C>T	9.37:g.120475702C>T						TLR4_uc004bka.2_Silent_p.S392S|TLR4_uc004bkb.2_Silent_p.S232S	p.S432S	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1587	+			432			LRR 13.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1296C>T	CCDS6818.1																																																																																				0.378	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3		NM_138554		40	12	0	0	0	0.086207	0	40	12		
FUBP3	8939	broad.mit.edu	37	9	133499065	133499065	+	Silent	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:133499065G>T	ENST00000319725.9	+	11	1017	c.942G>T	c.(940-942)gcG>gcT	p.A314A		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	314	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A314A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGCATGCAGCGCATATCATCA	0.557																																						uc004bzr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(940-942)GCG>GCT		far upstream element (FUSE) binding protein 3							95.0	97.0	96.0					9																	133499065		2029	4204	6233	SO:0001819	synonymous_variant	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133499065G>T	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.942G>T	9.37:g.133499065G>T						FUBP3_uc010mzd.1_Silent_p.A254A|FUBP3_uc004bzs.1_Silent_p.A227A	p.A314A	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	11	1050	+			314			KH 3.		A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	ENST00000319725.9	37	c.942G>T	CCDS43893.1																																																																																				0.557	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1				19	4	1	0	6.33239e-15	0.055883	7.2516e-15	19	4		
TSC1	7248	broad.mit.edu	37	9	135781358	135781358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:135781358A>T	ENST00000298552.3	-	15	1828	c.1607T>A	c.(1606-1608)tTa>tAa	p.L536*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.L536*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.L485*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	536					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.L536*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAGGAGTGTAAAGGCTCAGG	0.587			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)	urinary_tract(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(1606-1608)TTA>TAA		tuberous sclerosis 1 protein isoform 1							77.0	77.0	77.0					9																	135781358		2203	4300	6503	SO:0001587	stop_gained	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135781358A>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1607T>A	9.37:g.135781358A>T	ENSP00000298552:p.Leu536*					TSC1_uc004ccb.3_Nonsense_Mutation_p.L535*|TSC1_uc011mcq.1_Nonsense_Mutation_p.L485*|TSC1_uc011mcr.1_Intron	p.L536*	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	1841	-			536					B7Z897|Q5VVN5	Nonsense_Mutation	SNP	ENST00000298552.3	37	c.1607T>A	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	A	39	7.362319	0.98238	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.72	3.38	0.38709	.	0.928134	0.09087	N	0.850395	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.9007	8.3749	0.32436	0.8465:0.0:0.1535:0.0	.	.	.	.	X	536;536;485	.	ENSP00000298552:L536X	L	-	2	0	TSC1	134771179	0.002000	0.14202	0.002000	0.10522	0.959000	0.62525	1.225000	0.32551	0.535000	0.28714	0.528000	0.53228	TTA		0.587	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				24	5	0	0	0	0.083992	0	24	5		
FAM9B	171483	broad.mit.edu	37	X	8995957	8995957	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:8995957C>T	ENST00000327220.5	-	7	808	c.444G>A	c.(442-444)agG>agA	p.R148R	FAM9B_ENST00000428477.1_Silent_p.R148R|FAM9B_ENST00000362066.3_Silent_p.R188R			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	148						nucleus (GO:0005634)		p.R148R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GCCTCTCTCTCCTAACACTTC	0.323																																						uc011mhu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(442-444)AGG>AGA		family with sequence similarity 9, member B							226.0	190.0	202.0					X																	8995957		2203	4300	6503	SO:0001819	synonymous_variant	171483					nucleus		g.chrX:8995957C>T		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.444G>A	X.37:g.8995957C>T						FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Silent_p.R188R	p.R148R	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN			6	533	-		Hepatocellular(5;0.219)	148					Q0IJ68|Q8N7Z8	Silent	SNP	ENST00000327220.5	37	c.444G>A	CCDS14132.1																																																																																				0.323	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2		NM_205849		37	51	0	0	0	0.039052	0	37	51		
WNK3	65267	broad.mit.edu	37	X	54259293	54259293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:54259293G>A	ENST00000375159.2	-	20	4788	c.4789C>T	c.(4789-4791)Cga>Tga	p.R1597*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.R1597*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.R1550*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1597					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1597*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGCGGCTTCGAAGTTTGCTT	0.418																																						uc004dtd.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(4648-4650)CGA>TGA		WNK lysine deficient protein kinase 3 isoform 2							130.0	120.0	123.0					X																	54259293		2203	4300	6503	SO:0001587	stop_gained	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54259293G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4789C>T	X.37:g.54259293G>A	ENSP00000364301:p.Arg1597*					WNK3_uc004dtc.1_Nonsense_Mutation_p.R1597*	p.R1550*	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			21	5087	-			1550					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	c.4648C>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	45	11.848192	0.99610	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.69	5.69	0.88448	.	0.000000	0.47093	D	0.000254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2961	17.4246	0.87522	0.0:0.0:1.0:0.0	.	.	.	.	X	1550;1597;1597	.	ENSP00000346667:R1597X	R	-	1	2	WNK3	54276018	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.140000	0.89616	2.383000	0.81215	0.594000	0.82650	CGA		0.418	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2		NM_020922		43	39	0	0	0	0.048971	0	43	39		
GPRASP1	9737	broad.mit.edu	37	X	101910483	101910483	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:101910483G>C	ENST00000361600.5	+	5	2443	c.1642G>C	c.(1642-1644)Gag>Cag	p.E548Q	GPRASP1_ENST00000415986.1_Missense_Mutation_p.E548Q|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E548Q|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E548Q	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	548	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.E548Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAGGAAGAAGAGGTCATTGG	0.517																																						uc004ejj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(1642-1644)GAG>CAG		G protein-coupled receptor associated sorting							144.0	136.0	139.0					X																	101910483		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910483G>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1642G>C	X.37:g.101910483G>C	ENSP00000355146:p.Glu548Gln					GPRASP1_uc004eji.3_Missense_Mutation_p.E548Q|GPRASP1_uc010nod.2_Missense_Mutation_p.E548Q	p.E548Q	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	2443	+			548			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1642G>C	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265369	0.40095	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	2.67	2.67	0.31697	.	.	.	.	.	T	0.11580	0.0282	L	0.51422	1.61	0.09310	N	1	P	0.42757	0.789	B	0.41135	0.348	T	0.15065	-1.0450	9	0.24483	T	0.36	-0.0149	10.6201	0.45474	0.0:0.0:1.0:0.0	.	548	Q5JY77	GASP1_HUMAN	Q	548	ENSP00000393691:E548Q;ENSP00000409420:E548Q;ENSP00000355146:E548Q;ENSP00000445683:E548Q	ENSP00000355146:E548Q	E	+	1	0	GPRASP1	101797139	0.145000	0.22656	0.004000	0.12327	0.843000	0.47879	2.890000	0.48609	1.617000	0.50277	0.519000	0.50382	GAG		0.517	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2		NM_014710		68	16	0	0	0	0.048971	0	68	16		
MAGEC3	139081	broad.mit.edu	37	X	140953305	140953305	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:140953305C>A	ENST00000298296.1	+	2	172	c.172C>A	c.(172-174)Cat>Aat	p.H58N		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	58								p.H58N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTTGGGCATCTGAGGGA	0.512																																						uc011mwp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(172-174)CAT>AAT		melanoma antigen family C, 3 isoform 1							200.0	160.0	174.0					X																	140953305		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140953305C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.172C>A	X.37:g.140953305C>A	ENSP00000298296:p.His58Asn						p.H58N	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			2	172	+	Acute lymphoblastic leukemia(192;6.56e-05)		58					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.172C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	C	6.537	0.467288	0.12402	.	.	ENSG00000165509	ENST00000298296	T	0.08546	3.08	1.93	-3.82	0.04281	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.40440	-0.9563	9	0.87932	D	0	.	1.1057	0.01693	0.2495:0.4073:0.1567:0.1864	.	58	Q8TD91	MAGC3_HUMAN	N	58	ENSP00000298296:H58N	ENSP00000298296:H58N	H	+	1	0	MAGEC3	140780971	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.883000	0.01623	-1.303000	0.02332	-0.490000	0.04691	CAT		0.512	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1		NM_138702		49	57	1	0	1.17673e-23	0.048971	1.39246e-23	49	57		
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						uc001sws.2		NaN																	0					0						c.(991-993)GGTfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs					TMEM19_uc009zru.1_RNA	p.G331fs	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1576	+		Breast(359;0.0889)	331			Helical; (Potential).		B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1		NM_018279		8	358	NaN	NaN	NaN	NaN	NaN	8	358	---	---
ZCCHC8	55596	broad.mit.edu	37	12	122975027	122975027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:122975027delG	ENST00000336229.4	-	4	535	c.405delC	c.(403-405)tccfs	p.S135fs	SNORA9_ENST00000516383.1_RNA|ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	135					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AAAGATTAAAGGAAGTCTTTT	0.338																																						uc001ucn.2		NaN																	0					0						c.(403-405)TCCfs		zinc finger, CCHC domain containing 8							63.0	60.0	61.0					12																	122975027		1808	4066	5874	SO:0001589	frameshift_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122975027delG	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.405delC	12.37:g.122975027delG	ENSP00000337313:p.Ser135fs					ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	p.S135fs	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	4	536	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		135					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Frame_Shift_Del	DEL	ENST00000336229.4	37	c.405delC																																																																																					0.338	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017612		20	27	NaN	NaN	NaN	NaN	NaN	20	27	---	---
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs371719084|rs112393371|rs200046748	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2868)ccgagcfs	p.S956fs	LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	956					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668																																						uc002joh.2		NaN																	0				ovary(2)	2						c.(2863-2865)CCGfs		lethal giant larvae homolog 2 isoform c																																				SO:0001589	frameshift_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569700_73569701insG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2865dupG	17.37:g.73569701_73569701dupG	ENSP00000376333:p.Ser956fs					LLGL2_uc002joi.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.1_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.2_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.1_Frame_Shift_Ins_p.P582fs	p.P955fs	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		21	3018_3019	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		955					Q14521|Q9BR62	Frame_Shift_Ins	INS	ENST00000392550.3	37	c.2864_2865insG	CCDS32733.1																																																																																				0.668	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		NM_004524		8	52	NaN	NaN	NaN	NaN	NaN	8	52	---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374					uc010dwa.2		NaN																	2	Deletion - In frame(2)		large_intestine(1)|breast(1)		0						c.(1465-1479)GATGGCGACAGCGAG>GAG		ankyrin repeat domain 47				958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949							g.chr19:8398950_8398961delTCGCTGTCGCCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del					KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del	p.DGDS489del	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN			5	1533_1544	-			489_492					Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37	c.1467_1478delTGGCGACAGCGA																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1		NM_198471		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
FDX1L	112812	broad.mit.edu	37	19	10428414	10428414	+	5'Flank	DEL	C	C	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:10428414delC	ENST00000393708.3	-	0	0				CTD-2369P2.12_ENST00000586529.1_Frame_Shift_Del_p.G93fs|FDX1L_ENST00000494368.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_5'Flank|RAVER1_ENST00000293677.6_Frame_Shift_Del_p.G692fs|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GGCCCAGGAGCCCTTCTCCGG	0.697																																						uc002moa.2		NaN																	0				ovary(1)	1						c.(2074-2076)GGGfs		RAVER1							10.0	13.0	12.0					19																	10428414		1865	4053	5918	SO:0001631	upstream_gene_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10428414delC	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10428414delC	Exception_encountered					FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Frame_Shift_Del_p.G60fs	p.G692fs	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		12	2156	-			519					Q8N8B8	Frame_Shift_Del	DEL	ENST00000393708.3	37	c.2076delG	CCDS32905.1																																																																																				0.697	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
PDXK	8566	broad.mit.edu	37	21	45161607	45161607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr21:45161607delG	ENST00000291565.4	+	3	385	c.202delG	c.(202-204)ggcfs	p.G68fs	PDXK_ENST00000468090.1_Frame_Shift_Del_p.G68fs|PDXK_ENST00000467908.1_Frame_Shift_Del_p.G28fs	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	68					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTGTACGAAGGCCTGAGGCT	0.577																																						uc002zdm.3		NaN																	0					0						c.(202-204)GGCfs		pyridoxal kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						125.0	115.0	119.0					21																	45161607		2203	4300	6503	SO:0001589	frameshift_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45161607delG	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.202delG	21.37:g.45161607delG	ENSP00000291565:p.Gly68fs					PDXK_uc010gpj.2_Frame_Shift_Del_p.G68fs|PDXK_uc002zdn.3_Frame_Shift_Del_p.G68fs|PDXK_uc002zdq.3_5'UTR	p.G68fs	NM_003681	NP_003672	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	3	400	+			68					Q7Z2Y0|Q9BS02	Frame_Shift_Del	DEL	ENST00000291565.4	37	c.202delG	CCDS13699.1																																																																																				0.577	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1		NM_003681		16	27	NaN	NaN	NaN	NaN	NaN	16	27	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						uc003gce.2		NaN																	0					0						c.(1435-1437)CACfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs	p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1596_1597	+			479			His-rich.|Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2		NM_021923		3	6	NaN	NaN	NaN	NaN	NaN	3	6	---	---
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094364	139094365	+	Frame_Shift_Ins	INS	-	-	AG	rs368249579	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:139094364_139094365insAG	ENST00000354926.4	+	7	1097_1098	c.743_744insAG	c.(742-747)gaagagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Ins_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Ins_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Ins_p.EE314fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AAACGAAGAGAAGAGAGAGAGA	0.396																																						uc003vux.2		NaN																	0					0						c.(742-744)GAAfs		LUC7-like 2																																				SO:0001589	frameshift_variant	51631						enzyme binding|metal ion binding	g.chr7:139094364_139094365insAG		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.756_757dupAG	7.37:g.139094373_139094374dupAG	ENSP00000347005:p.Glu248fs					LUC7L2_uc011kqs.1_Frame_Shift_Ins_p.E245fs|LUC7L2_uc011kqt.1_Frame_Shift_Ins_p.E314fs|LUC7L2_uc003vuy.2_Frame_Shift_Ins_p.E247fs|LUC7L2_uc003vuz.1_Frame_Shift_Ins_p.E195fs|LUC7L2_uc003vva.2_Frame_Shift_Ins_p.E195fs	p.E248fs	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			7	1117_1118	+	Melanoma(164;0.242)		248			Arg/Ser-rich.			Frame_Shift_Ins	INS	ENST00000354926.4	37	c.743_744insAG	CCDS43656.1																																																																																				0.396	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2				6	11	NaN	NaN	NaN	NaN	NaN	6	11	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					uc004ddy.1		NaN																	2	Deletion - In frame(2)		prostate(2)		0						c.(67-72)CTGCGC>CGC		sushi-repeat-containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_uc004ddz.1_In_Frame_Del_p.L23del|SRPX_uc011mkh.1_In_Frame_Del_p.L23del|SRPX_uc011mki.1_In_Frame_Del_p.L23del	p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN			1	154_156	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1		NM_006307		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
