#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
DNAJC11	55735	broad.mit.edu	37	1	6704689	6704689	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:6704689C>T	ENST00000377577.5	-	10	1149	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	DNAJC11_ENST00000542246.1_Silent_p.K304K|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.K252K|DNAJC11_ENST00000294401.7_Silent_p.K342K|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	342						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGAGATCTTCCTCTCAG	0.552																																						uc001aof.2		NaN																	0				ovary(1)|skin(1)	2						c.(1024-1026)AAG>AAA		DnaJ (Hsp40) homolog, subfamily C, member 11							94.0	88.0	90.0					1																	6704689		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6704689C>T	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1026G>A	1.37:g.6704689C>T						DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.K342K|DNAJC11_uc010nzu.1_Silent_p.K252K	p.K342K	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	10	1132	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	342					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1026G>A	CCDS87.1																																																																																				0.552	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3		NM_018198		30	52	0	0	0	0.000491102	0	30	52		
MTHFR	4524	broad.mit.edu	37	1	11854538	11854538	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:11854538C>G	ENST00000376592.1	-	7	1352	c.1224G>C	c.(1222-1224)ctG>ctC	p.L408L	MTHFR_ENST00000376585.1_Silent_p.L449L|MTHFR_ENST00000376583.3_Silent_p.L449L|MTHFR_ENST00000376590.3_Silent_p.L408L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	408					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	ACTTGCTCTTCAGGTAGAAGA	0.562																																						uc001atc.1		NaN																	0					0						c.(1222-1224)CTG>CTC		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						75.0	85.0	81.0					1																	11854538		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11854538C>G	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1224G>C	1.37:g.11854538C>G						MTHFR_uc001atb.1_Silent_p.L431L	p.L408L	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	8	1408	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	408					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.1224G>C	CCDS137.1																																																																																				0.562	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1		NM_005957		18	106	0	0	0	0.000229342	0	18	106		
MACF1	23499	broad.mit.edu	37	1	39776610	39776610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:39776610G>A	ENST00000372915.3	+	25	3310	c.3223G>A	c.(3223-3225)Gcc>Acc	p.A1075T	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.A1075T|MACF1_ENST00000361689.2_Missense_Mutation_p.A1075T|MACF1_ENST00000317713.7_Missense_Mutation_p.A1075T|MACF1_ENST00000564288.1_Missense_Mutation_p.A1070T|MACF1_ENST00000545844.1_Missense_Mutation_p.A1075T|MACF1_ENST00000567887.1_Missense_Mutation_p.A1107T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1075					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)			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)			TCAGTCTCTAGCCAGCTCTAG	0.502																																						uc010ois.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3223-3225)GCC>ACC		microfilament and actin filament cross-linker							100.0	95.0	97.0					1																	39776610		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.chr1:39776610G>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.3223G>A	1.37:g.39776610G>A	ENSP00000362006:p.Ala1075Thr					MACF1_uc001cda.1_Missense_Mutation_p.A983T|MACF1_uc001cdc.1_Missense_Mutation_p.A162T|MACF1_uc009vvq.1_Missense_Mutation_p.A132T|MACF1_uc001cdb.1_Missense_Mutation_p.A162T	p.A1075T	NM_012090	NP_036222	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)		27	3428	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1075					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3223G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.349236|1.349236	0.24426|0.24426	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;D;D|.	0.87491|.	-0.01;0.02;-0.01;-0.05;0.15;-1.99;-2.26|.	5.38|5.38	1.4|1.4	0.22301|0.22301	.|.	.|.	.|.	.|.	.|.	T|T	0.15219|0.15219	0.0367|0.0367	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.22346|.	0.068;0.0;0.004|.	B;B;B|.	0.19148|.	0.024;0.002;0.02|.	T|T	0.20706|0.20706	-1.0267|-1.0267	9|5	0.52906|.	T|.	0.07|.	.|.	3.5894|3.5894	0.07983|0.07983	0.2683:0.0:0.435:0.2967|0.2683:0.0:0.435:0.2967	.|.	1075;1075;1040|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	T|N	1075;1075;1075;1075;1075;1033;1224|208	ENSP00000439537:A1075T;ENSP00000362006:A1075T;ENSP00000354573:A1075T;ENSP00000313438:A1075T;ENSP00000444364:A1075T;ENSP00000435070:A1033T;ENSP00000437059:A1224T|.	ENSP00000313438:A1075T|.	A|S	+|+	1|2	0|0	MACF1|MACF1	39549197|39549197	0.021000|0.021000	0.18746|0.18746	0.133000|0.133000	0.22050|0.22050	0.505000|0.505000	0.33919|0.33919	0.634000|0.634000	0.24614|0.24614	1.205000|1.205000	0.43262|0.43262	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		42	63	0	0	0	0.000147903	0	42	63		
LEPRE1	64175	broad.mit.edu	37	1	43228147	43228147	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:43228147C>G	ENST00000296388.5	-	2	517		c.e2-1		LEPRE1_ENST00000397054.3_Splice_Site|LEPRE1_ENST00000236040.4_Splice_Site			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1						bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTTGTTGATCTAAGAATGAA	0.463																																						uc001chv.2		NaN																	0				ovary(3)|lung(1)	4						c.e2-1		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						105.0	103.0	104.0					1																	43228147		2203	4300	6503	SO:0001630	splice_region_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43228147C>G	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.466-1G>C	1.37:g.43228147C>G						LEPRE1_uc001chw.2_Splice_Site_p.I156_splice|LEPRE1_uc001chx.3_Splice_Site_p.I156_splice|LEPRE1_uc001chy.3_Intron	p.I156_splice	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			2	579	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)						Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Splice_Site	SNP	ENST00000296388.5	37	c.466_splice	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168952	0.57584	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3865	0.87417	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEPRE1	43000734	1.000000	0.71417	0.999000	0.59377	0.556000	0.35491	7.303000	0.78871	2.709000	0.92574	0.563000	0.77884	.		0.463	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2		NM_022356	Intron	48	95	0	0	0	0.000147903	0	48	95		
SZT2	23334	broad.mit.edu	37	1	43902989	43902989	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:43902989C>G	ENST00000562955.1	+	42	6011	c.6011C>G	c.(6010-6012)tCt>tGt	p.S2004C	SZT2_ENST00000372442.1_Missense_Mutation_p.S1162C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2061					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ATGGGGGTCTCTCGGGGTATG	0.552																																						uc001cjk.1		NaN																	0					0						c.(3484-3486)TCT>TGT		hypothetical protein LOC23334							78.0	80.0	79.0					1																	43902989		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43902989C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6011C>G	1.37:g.43902989C>G	ENSP00000457168:p.Ser2004Cys						p.S1162C	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			28	3947	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2061					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.3485C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139225	0.77775	.	.	ENSG00000198198	ENST00000372442	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	L	0.54323	1.7	0.37580	D	0.919789	D	0.89917	1.0	D	0.76575	0.988	T	0.79349	-0.1840	9	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	2004	Q5T011-5	.	C	1162	.	ENSP00000361519:S1162C	S	+	2	0	SZT2	43675576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.841000	0.69409	2.884000	0.98904	0.655000	0.94253	TCT		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		20	90	0	0	0	0.000295444	0	20	90		
STIL	6491	broad.mit.edu	37	1	47728683	47728683	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:47728683C>A	ENST00000360380.3	-	16	3081	c.2718G>T	c.(2716-2718)ggG>ggT	p.G906G	STIL_ENST00000243182.6_Silent_p.G906G|STIL_ENST00000371877.3_Silent_p.G907G|STIL_ENST00000396221.2_Silent_p.G889G|STIL_ENST00000337817.5_Silent_p.G906G	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	906					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACTGGCACCCCCTGTTGGTC	0.433																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(2716-2718)GGG>GGT		SCL/TAL1 interrupting locus isoform 2							185.0	163.0	170.0					1																	47728683		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47728683C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2718G>T	1.37:g.47728683C>A						TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.G860G|STIL_uc010omo.1_Silent_p.G889G|STIL_uc001crd.1_Silent_p.G907G|STIL_uc001cre.1_Silent_p.G906G|STIL_uc001crf.1_Silent_p.G519G|STIL_uc001crg.1_Silent_p.G842G	p.G906G	NM_003035	NP_003026	Q15468	STIL_HUMAN			15	2873	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	906					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.2718G>T	CCDS548.1																																																																																				0.433	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		8	144	1	0	0.000274275	0.000274275	0.00417306	8	144		
BTF3L4	91408	broad.mit.edu	37	1	52530608	52530608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:52530608G>C	ENST00000313334.8	+	3	434	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	BTF3L4_ENST00000489308.2_Missense_Mutation_p.E56Q|BTF3L4_ENST00000472944.2_5'UTR|BTF3L4_ENST00000484036.1_Missense_Mutation_p.E56Q|BTF3L4_ENST00000533836.1_3'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	56	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.									endometrium(2)|kidney(1)|large_intestine(2)	5						TGGTATTGAAGAGGTATGATC	0.358																																						uc001ctk.2		NaN																	0				large_intestine(1)	1						c.(166-168)GAG>CAG		basic transcription factor 3-like 4 isoform 1							59.0	60.0	59.0					1																	52530608		2203	4300	6503	SO:0001583	missense	91408							g.chr1:52530608G>C	BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.166G>C	1.37:g.52530608G>C	ENSP00000360664:p.Glu56Gln					BTF3L4_uc001ctl.2_5'UTR|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Missense_Mutation_p.E56Q	p.E56Q	NM_152265	NP_689478	Q96K17	BT3L4_HUMAN			3	374	+			56			NAC-A/B.		B3KNJ1|D3DQ32|G3V1C6	Missense_Mutation	SNP	ENST00000313334.8	37	c.166G>C	CCDS30713.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937104	0.92458	.	.	ENSG00000134717	ENST00000313334;ENST00000489308;ENST00000484036	.	.	.	5.46	5.46	0.80206	Nascent polypeptide-associated complex NAC (2);	0.000000	0.85682	D	0.000000	D	0.85539	0.5720	M	0.93420	3.415	0.80722	D	1	P	0.51791	0.948	P	0.59288	0.855	D	0.88857	0.3323	9	0.87932	D	0	.	19.6691	0.95903	0.0:0.0:1.0:0.0	.	56	Q96K17	BT3L4_HUMAN	Q	56	.	ENSP00000360664:E56Q	E	+	1	0	BTF3L4	52303196	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.793000	0.99091	2.721000	0.93114	0.591000	0.81541	GAG		0.358	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1		NM_152265		22	52	0	0	0	0.000175454	0	22	52		
GPR88	54112	broad.mit.edu	37	1	101005559	101005559	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:101005559C>A	ENST00000315033.4	+	2	1476	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	346					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TTCCGCCGCTCCGTGCGCTCA	0.741																																						uc001dth.2		NaN																	0					0						c.(1036-1038)TCC>TAC		G-protein coupled receptor 88							5.0	6.0	6.0					1																	101005559		2018	4013	6031	SO:0001583	missense	54112					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:101005559C>A	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.1037C>A	1.37:g.101005559C>A	ENSP00000314223:p.Ser346Tyr						p.S346Y	NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)	2	1441	+		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)	346			Cytoplasmic (Potential).		Q29S24|Q6VN48	Missense_Mutation	SNP	ENST00000315033.4	37	c.1037C>A	CCDS772.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388769	0.42308	.	.	ENSG00000181656	ENST00000315033	T	0.37584	1.19	4.37	4.37	0.52481	.	0.153865	0.29093	U	0.013169	T	0.17789	0.0427	N	0.14661	0.345	0.32943	D	0.518661	D	0.56968	0.978	P	0.49012	0.598	T	0.05869	-1.0859	10	0.72032	D	0.01	-14.7191	12.3409	0.55093	0.0:0.828:0.172:0.0	.	346	Q9GZN0	GPR88_HUMAN	Y	346	ENSP00000314223:S346Y	ENSP00000314223:S346Y	S	+	2	0	GPR88	100778147	0.936000	0.31750	1.000000	0.80357	0.984000	0.73092	2.981000	0.49329	2.243000	0.73865	0.462000	0.41574	TCC		0.741	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1		NM_022049		3	0	1	0	0.00024832	0.00024832	0.00378859	3	0		
CELSR2	1952	broad.mit.edu	37	1	109793966	109793966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:109793966C>T	ENST00000271332.3	+	1	1326	c.1265C>T	c.(1264-1266)aCa>aTa	p.T422I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	422	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCGAGTCACAGCCTCGGAT	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	0				ovary(4)|lung(3)|skin(1)	8						c.(1264-1266)ACA>ATA		cadherin EGF LAG seven-pass G-type receptor 2							86.0	92.0	90.0					1																	109793966		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793966C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1265C>T	1.37:g.109793966C>T	ENSP00000271332:p.Thr422Ile						p.T422I	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1326	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	422			Cadherin 3.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1265C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	11.28	1.590807	0.28357	.	.	ENSG00000143126	ENST00000271332	T	0.55588	0.51	4.82	4.82	0.62117	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29061	0.0722	L	0.46157	1.445	0.38620	D	0.951129	B	0.21452	0.056	B	0.27380	0.079	T	0.18493	-1.0335	9	0.34782	T	0.22	.	7.4273	0.27107	0.2793:0.6404:0.0:0.0803	.	422	Q9HCU4	CELR2_HUMAN	I	422	ENSP00000271332:T422I	ENSP00000271332:T422I	T	+	2	0	CELSR2	109595489	0.000000	0.05858	0.995000	0.50966	0.947000	0.59692	0.492000	0.22435	2.543000	0.85770	0.555000	0.69702	ACA		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		19	60	0	0	0	0.000175454	0	19	60		
CHIA	27159	broad.mit.edu	37	1	111853046	111853046	+	5'UTR	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:111853046C>G	ENST00000369740.1	+	0	60				CHIA_ENST00000343320.6_5'UTR|CHIA_ENST00000451398.2_5'Flank|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'Flank|CHIA_ENST00000353665.6_5'Flank	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic						apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCACAGAATCAGAACATATA	0.408																																						uc001eas.2		NaN																	0				ovary(1)	1						c.(-45--41)ATCAG>ATGAG		acidic chitinase isoform c							107.0	103.0	104.0					1																	111853046		1862	4094	5956	SO:0001623	5_prime_UTR_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111853046C>G	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.-44C>G	1.37:g.111853046C>G						CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Translation_Start_Site|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Translation_Start_Site|CHIA_uc001eau.2_Translation_Start_Site|CHIA_uc009wgd.2_Translation_Start_Site		NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	2	60	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)						Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Translation_Start_Site	SNP	ENST00000369740.1	37	c.-43C>G	CCDS41368.1																																																																																				0.408	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1				15	33	0	0	0	0.000219431	0	15	33		
NBPF14	25832	broad.mit.edu	37	1	148004641	148004641	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:148004641G>C	ENST00000369219.1	-	22	2689	c.2673C>G	c.(2671-2673)atC>atG	p.I891M				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	891	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGGCGAAGCTGATATGCTCTT	0.438																																						uc001eqq.2		NaN																	0				ovary(1)	1						c.(2671-2673)ATC>ATG		hypothetical protein LOC25832							94.0	147.0	130.0					1																	148004641		1917	4124	6041	SO:0001583	missense	25832					cytoplasm		g.chr1:148004641G>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2673C>G	1.37:g.148004641G>C	ENSP00000358221:p.Ile891Met					LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Missense_Mutation_p.I239M|NBPF14_uc010pac.1_Missense_Mutation_p.I464M	p.I891M	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			22	2690	-	all_hematologic(923;0.032)		891			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.2673C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.966|7.966	0.747931|0.747931	0.15710|0.15710	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701	T|.	0.08102|.	3.13|.	0.445|0.445	0.445|0.445	0.16597|0.16597	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|.	0.18964|.	0.0455|.	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	P;D;P|.	0.58620|.	0.565;0.983;0.87|.	B;P;P|.	0.58620|.	0.22;0.842;0.616|.	T|.	0.23476|.	-1.0187|.	8|.	0.87932|.	D|.	0|.	.|.	.|.	.|.	.|.	.|.	239;872;891|.	F8WEX8;B4DH59;Q5TI25|.	.;.;NBPFE_HUMAN|.	M|X	891;239|897	ENSP00000358221:I891M|.	ENSP00000358221:I891M|.	I|S	-|-	3|2	3|0	NBPF14|NBPF14	146471265|146471265	0.162000|0.162000	0.22906|0.22906	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	-0.758000|-0.758000	0.04766|0.04766	0.537000|0.537000	0.28751|0.28751	0.372000|0.372000	0.22366|0.22366	ATC|TCA		0.438	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_015383		158	192	0	0	0	0.000147903	0	158	192		
MTMR11	10903	broad.mit.edu	37	1	149906158	149906158	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:149906158C>T	ENST00000439741.2	-	7	859	c.609G>A	c.(607-609)gaG>gaA	p.E203E	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.E131E|MTMR11_ENST00000361405.6_Silent_p.E203E|MTMR11_ENST00000406732.3_Silent_p.E175E	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	203	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCGCTCAGTCTCCCAGTCTT	0.572																																						uc001etl.3		NaN																	0				central_nervous_system(1)	1						c.(607-609)GAG>GAA		myotubularin related protein 11 isoform a							83.0	76.0	79.0					1																	149906158		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149906158C>T	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.609G>A	1.37:g.149906158C>T						MTMR11_uc001etm.1_Silent_p.E131E|MTMR11_uc010pbm.1_Silent_p.E175E|MTMR11_uc010pbn.1_Silent_p.E45E	p.E203E	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		7	860	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		203			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.609G>A	CCDS53360.1																																																																																				0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_181873		32	49	0	0	0	0.000409698	0	32	49		
SELENBP1	8991	broad.mit.edu	37	1	151341538	151341538	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:151341538G>A	ENST00000368868.5	-	4	393	c.302C>T	c.(301-303)tCc>tTc	p.S101F	SELENBP1_ENST00000435071.1_Missense_Mutation_p.S37F|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000426705.2_Missense_Mutation_p.S143F|SELENBP1_ENST00000447402.3_Intron	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	101					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATGCGAGAGGAGATGAGACT	0.592																																						uc001exx.2		NaN																	0					0						c.(301-303)TCC>TTC		selenium binding protein 1							81.0	75.0	77.0					1																	151341538		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151341538G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.302C>T	1.37:g.151341538G>A	ENSP00000357861:p.Ser101Phe					SELENBP1_uc010pcy.1_Missense_Mutation_p.S143F|SELENBP1_uc001exy.2_5'UTR|SELENBP1_uc001exz.2_5'UTR|SELENBP1_uc010pcz.1_Intron|SELENBP1_uc009wms.2_5'UTR|SELENBP1_uc009wmt.2_5'UTR|SELENBP1_uc001eya.2_Missense_Mutation_p.S37F|SELENBP1_uc009wmu.2_5'UTR	p.S101F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	349	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		101					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.302C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517064	0.85495	.	.	ENSG00000143416	ENST00000368868;ENST00000435071;ENST00000458566;ENST00000426705	T;T;T;T	0.32753	1.44;1.44;2.43;2.43	4.95	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74380	-0.3684	10	0.87932	D	0	-1.9739	14.0756	0.64889	0.0:0.1521:0.8479:0.0	.	143;101	A6PVW9;Q13228	.;SBP1_HUMAN	F	101;37;85;143	ENSP00000357861:S101F;ENSP00000408263:S37F;ENSP00000406222:S85F;ENSP00000397261:S143F	ENSP00000357861:S101F	S	-	2	0	SELENBP1	149608162	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	8.978000	0.93450	1.294000	0.44707	0.462000	0.41574	TCC		0.592	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4				40	52	0	0	0	0.000319135	0	40	52		
SELENBP1	8991	broad.mit.edu	37	1	151341620	151341620	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:151341620G>C	ENST00000368868.5	-	4	311	c.220C>G	c.(220-222)Cac>Gac	p.H74D	SELENBP1_ENST00000435071.1_Missense_Mutation_p.H10D|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000426705.2_Missense_Mutation_p.H116D|SELENBP1_ENST00000447402.3_Intron	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	74					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATCCTGAGTGATGCAGCTCG	0.607																																						uc001exx.2		NaN																	0					0						c.(220-222)CAC>GAC		selenium binding protein 1							103.0	89.0	94.0					1																	151341620		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151341620G>C	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.220C>G	1.37:g.151341620G>C	ENSP00000357861:p.His74Asp					SELENBP1_uc010pcy.1_Missense_Mutation_p.H116D|SELENBP1_uc001exy.2_Translation_Start_Site|SELENBP1_uc001exz.2_Translation_Start_Site|SELENBP1_uc010pcz.1_Intron|SELENBP1_uc009wms.2_Translation_Start_Site|SELENBP1_uc009wmt.2_Translation_Start_Site|SELENBP1_uc001eya.2_Missense_Mutation_p.H10D|SELENBP1_uc009wmu.2_Translation_Start_Site	p.H74D	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	267	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		74					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.220C>G	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262712	0.80358	.	.	ENSG00000143416	ENST00000368868;ENST00000435071;ENST00000458566;ENST00000426705;ENST00000427867	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.89682	0.3891	9	0.87932	D	0	3.5911	16.8552	0.86004	0.0:0.0:1.0:0.0	.	116;74	A6PVW9;Q13228	.;SBP1_HUMAN	D	74;10;58;116;56	.	ENSP00000357861:H74D	H	-	1	0	SELENBP1	149608244	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	5.088000	0.64486	2.556000	0.86216	0.462000	0.41574	CAC		0.607	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4				32	74	0	0	0	0.00058488	0	32	74		
SPRR1A	6698	broad.mit.edu	37	1	152957821	152957821	+	Missense_Mutation	SNP	G	G	A	rs17882377	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:152957821G>A	ENST00000368762.1	+	1	115	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SPRR1A_ENST00000307122.2_Missense_Mutation_p.E39K			P35321	SPR1A_HUMAN	small proline-rich protein 1A	39	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAACCAAGGAGCCCTGCCA	0.652																																						uc009wnu.1		NaN																	0					0						c.(115-117)GAG>AAG		small proline-rich protein 1A							128.0	131.0	130.0					1																	152957821		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957821G>A	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.115G>A	1.37:g.152957821G>A	ENSP00000357751:p.Glu39Lys					SPRR1A_uc001faw.2_Missense_Mutation_p.E39K	p.E39K	NM_005987	NP_005978	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	193	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			2.|6 X 8 AA approximate tandem repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.115G>A	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891949	0.72524	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.13901	2.55;2.55	4.67	4.67	0.58626	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.30040	N	0.812722	D	0.76494	0.999	D	0.83275	0.996	T	0.01652	-1.1303	8	0.66056	D	0.02	-11.3766	13.4876	0.61375	0.0:0.0:1.0:0.0	.	39	P35321	SPR1A_HUMAN	K	39	ENSP00000307340:E39K;ENSP00000357751:E39K	ENSP00000307340:E39K	E	+	1	0	SPRR1A	151224445	1.000000	0.71417	0.937000	0.37676	0.537000	0.34900	4.401000	0.59716	2.325000	0.78763	0.549000	0.68633	GAG		0.652	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1		NM_005987		30	125	0	0	0	0.000227799	0	30	125		
ARHGEF2	9181	broad.mit.edu	37	1	155931990	155931990	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:155931990G>A	ENST00000361247.4	-	10	1224	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	ARHGEF2_ENST00000368315.4_Silent_p.L376L|ARHGEF2_ENST00000462460.2_Silent_p.L420L|ARHGEF2_ENST00000313667.4_Silent_p.L374L|ARHGEF2_ENST00000368316.1_Silent_p.L347L|ARHGEF2_ENST00000313695.7_Silent_p.L347L|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	375	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGTGCCGCTTGAGCACGGCGG	0.637																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2		NaN																	0				ovary(1)	1						c.(1123-1125)CTC>CTT		Rho/Rac guanine nucleotide exchange factor 2							54.0	57.0	56.0					1																	155931990		2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931990G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1125C>T	1.37:g.155931990G>A						ARHGEF2_uc001fmr.2_Silent_p.L347L|ARHGEF2_uc001fms.2_Silent_p.L374L|ARHGEF2_uc001fmu.2_Silent_p.L419L|ARHGEF2_uc010pgt.1_Silent_p.L348L|ARHGEF2_uc010pgu.1_Silent_p.L420L	p.L375L	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			10	1243	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		375			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.1125C>T	CCDS53376.1																																																																																				0.637	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2		NM_004723		25	44	0	0	0	0.000184323	0	25	44		
GPATCH4	54865	broad.mit.edu	37	1	156565923	156565923	+	Splice_Site	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:156565923A>G	ENST00000438976.2	-	7	471	c.441T>C	c.(439-441)atT>atC	p.I147I	GPATCH4_ENST00000368232.4_Splice_Site_p.I142I|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	142							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCAGTCAGACTGTTAGGGG	0.498																																						uc001fpm.2		NaN																	0				ovary(1)	1						c.(439-441)ATT>ATC		G patch domain containing 4 isoform 1							124.0	108.0	114.0					1																	156565923		2203	4300	6503	SO:0001630	splice_region_variant	54865					intracellular	nucleic acid binding	g.chr1:156565923A>G	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.441-1T>C	1.37:g.156565923A>G						APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Silent_p.I142I	p.I147I	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN			7	480	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		142					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	ENST00000438976.2	37	c.441T>C	CCDS44245.1																																																																																				0.498	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1		NM_017725	Silent	3	113	0	0	0	6.4e-05	0	3	113		
COPA	1314	broad.mit.edu	37	1	160267491	160267492	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:160267491_160267492CC>AA	ENST00000241704.7	-	20	2250_2251	c.2021_2022GG>TT	c.(2020-2022)tGG>tTT	p.W674F	COPA_ENST00000368069.3_Missense_Mutation_p.W683F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	674					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGCTTTTCCCAGCAGTTCTT	0.475																																						uc009wti.2		NaN																	0				ovary(1)|skin(1)	2						c.(2020-2022)TGG>TTT		coatomer protein complex, subunit alpha isoform																																				SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160267491_160267492CC>AA	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2021_2022delinsAA	1.37:g.160267491_160267492delinsAA	ENSP00000241704:p.Trp674Phe					COPA_uc001fvv.3_Missense_Mutation_p.W683F	p.W674F	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	2415_2416	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		674					Q5T201|Q8IXZ9	Missense_Mutation	DNP	ENST00000241704.7	37	c.2021_2022GG>TT	CCDS1202.1																																																																																				0.475	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371		11	278	0	0	0	6.4e-05	0	11	278		
FCGR3A	2214	broad.mit.edu	37	1	161599754	161599754	+	Intron	SNP	G	G	C	rs376361357		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:161599754G>C	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L81V|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.L45V|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.L45V			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCACTTCAGAGTCACACTG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		11406	0.0		0.001	False		,,,				2504	0.0					uc009wul.2		NaN																	0					0						c.(133-135)CTG>GTG		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	G	VAL/LEU	0,4304		0,0,2152	69.0	77.0	74.0		133	2.8	0.5	1		74	1,8583	1.2+/-3.3	0,1,4291	no	missense	FCGR3B	NM_000570.4	32	0,1,6443	CC,CG,GG		0.0116,0.0,0.0078	probably-damaging	45/234	161599754	1,12887	2152	4292	6444	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599754G>C	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+403C>G	1.37:g.161599754G>C							p.L45V	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	407	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		45			Ig-like C2-type 1.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.133C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.058035|3.058035	0.55325|0.55325	0.0|0.0	1.16E-4|1.16E-4	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.20332|.	2.08;2.08;2.08;2.08|.	2.79|2.79	2.79|2.79	0.32731|0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.44688|.	D|.	0.000430|.	T|T	0.60261|0.60261	0.2255|0.2255	M|M	0.91612|0.91612	3.225|3.225	0.28776|0.28776	N|N	0.900127|0.900127	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.56306|0.56306	-0.8001|-0.8001	10|5	0.87932|.	D|.	0|.	.|.	9.21|9.21	0.37313|0.37313	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	45|.	O75015|.	FCG3B_HUMAN|.	V|C	45;45;81;28|65	ENSP00000356941:L45V;ENSP00000294800:L45V;ENSP00000433642:L81V;ENSP00000437084:L28V|.	ENSP00000294800:L45V|.	L|S	-|-	1|2	2|0	FCGR3B|FCGR3B	159866378|159866378	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.384000|0.384000	0.30261|0.30261	2.027000|2.027000	0.41078|0.41078	1.564000|1.564000	0.49628|0.49628	0.388000|0.388000	0.25769|0.25769	CTG|TCT		0.532	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000569		31	308	0	0	0	0.00058488	0	31	308		
SRGAP2	23380	broad.mit.edu	37	1	206623769	206623769	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:206623769C>G	ENST00000414007.1	+	15	1718	c.1718C>G	c.(1717-1719)tCa>tGa	p.S573*	SRGAP2_ENST00000419187.2_Nonsense_Mutation_p.S18*|SRGAP2_ENST00000471256.1_3'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	713	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTTGAAGACTCAACCCAGGAT	0.552																																						uc001hdy.2		NaN																	0					0						c.(1876-1878)TCA>TGA		SLIT-ROBO Rho GTPase activating protein 2							81.0	82.0	82.0					1																	206623769		2103	4224	6327	SO:0001587	stop_gained	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206623769C>G	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1718C>G	1.37:g.206623769C>G	ENSP00000390898:p.Ser573*					SRGAP2_uc010prt.1_Nonsense_Mutation_p.S549*|SRGAP2_uc001hdx.2_Nonsense_Mutation_p.S626*|SRGAP2_uc010pru.1_Nonsense_Mutation_p.S549*|SRGAP2_uc010prv.1_Nonsense_Mutation_p.S550*	p.S626*	NM_015326	NP_056141	O75044	FNBP2_HUMAN			16	2210	+	Breast(84;0.137)		713						Nonsense_Mutation	SNP	ENST00000414007.1	37	c.1877C>G		.	.	.	.	.	.	.	.	.	.	C	51	17.972486	0.99897	.	.	ENSG00000163486	ENST00000414359;ENST00000414007;ENST00000419187;ENST00000439126	.	.	.	5.45	5.45	0.79879	.	0.259526	0.39407	N	0.001375	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	13.964	0.64199	0.0:0.8484:0.1516:0.0	.	.	.	.	X	626;573;18;327	.	ENSP00000390898:S573X	S	+	2	0	SRGAP2	204690392	0.011000	0.17503	0.976000	0.42696	0.974000	0.67602	1.263000	0.33004	2.552000	0.86080	0.557000	0.71058	TCA		0.552	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding			NM_015326		8	23	0	0	0	6.40141e-05	0	8	23		
IARS2	55699	broad.mit.edu	37	1	220276871	220276871	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:220276871G>A	ENST00000302637.5	+	8	1137	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	IARS2_ENST00000366922.1_Missense_Mutation_p.E273K	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	345					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTCTACTTTGGAAACAACATT	0.358																																						uc001hmc.2		NaN																	0				ovary(2)|skin(2)	4						c.(1033-1035)GAA>AAA		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						110.0	109.0	109.0					1																	220276871		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220276871G>A	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1033G>A	1.37:g.220276871G>A	ENSP00000303279:p.Glu345Lys						p.E345K	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	8	1137	+			345					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1033G>A	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701018	0.48307	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.76186	-1.0;-1.0	5.38	4.47	0.54385	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.342551	0.33364	N	0.004985	T	0.56232	0.1971	N	0.05510	-0.035	0.35720	D	0.817107	B	0.06786	0.001	B	0.08055	0.003	T	0.59627	-0.7419	10	0.49607	T	0.09	-18.8196	14.001	0.64433	0.073:0.0:0.927:0.0	.	345	Q9NSE4	SYIM_HUMAN	K	273;345	ENSP00000355889:E273K;ENSP00000303279:E345K	ENSP00000303279:E345K	E	+	1	0	IARS2	218343494	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.869000	0.63028	1.260000	0.44134	0.655000	0.94253	GAA		0.358	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018060		28	63	0	0	0	0.000184323	0	28	63		
LYST	1130	broad.mit.edu	37	1	235922510	235922510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:235922510C>T	ENST00000389794.3	-	23	6817	c.6643G>A	c.(6643-6645)Gat>Aat	p.D2215N	LYST_ENST00000389793.2_Missense_Mutation_p.D2215N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2215					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGACTGTCATCTTCTGACCTG	0.547																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(6643-6645)GAT>AAT		lysosomal trafficking regulator							122.0	122.0	122.0					1																	235922510		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922510C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6643G>A	1.37:g.235922510C>T	ENSP00000374444:p.Asp2215Asn					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.D2215N	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6818	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2215					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6643G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982344	0.18889	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61627	0.09;0.09	4.93	4.93	0.64822	.	0.471028	0.23230	N	0.050475	T	0.48466	0.1501	L	0.44542	1.39	0.80722	D	1	B	0.24823	0.112	B	0.26416	0.069	T	0.37911	-0.9685	10	0.15952	T	0.53	.	13.5198	0.61561	0.1561:0.8439:0.0:0.0	.	2215	Q99698	LYST_HUMAN	N	2215	ENSP00000374444:D2215N;ENSP00000374443:D2215N	ENSP00000374443:D2215N	D	-	1	0	LYST	233989133	0.905000	0.30787	0.023000	0.16930	0.067000	0.16453	2.478000	0.45189	2.463000	0.83235	0.558000	0.71614	GAT		0.547	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				35	74	0	0	0	0.000159656	0	35	74		
KIF26B	55083	broad.mit.edu	37	1	245772624	245772624	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:245772624C>T	ENST00000407071.2	+	8	2148	c.1708C>T	c.(1708-1710)Ccc>Tcc	p.P570S	KIF26B_ENST00000366518.4_Missense_Mutation_p.P189S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	570	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGGCATCATTCCCTGTGCCAT	0.532																																						uc001ibf.1		NaN																	0				ovary(3)	3						c.(1708-1710)CCC>TCC		kinesin family member 26B							39.0	40.0	40.0					1																	245772624		1927	4135	6062	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245772624C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1708C>T	1.37:g.245772624C>T	ENSP00000385545:p.Pro570Ser					KIF26B_uc010pyq.1_Missense_Mutation_p.P570S|KIF26B_uc001ibg.1_Missense_Mutation_p.P188S	p.P570S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		8	2148	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		570			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1708C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898723	0.72639	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.22134	1.97;1.97	5.07	5.07	0.68467	Kinesin, motor domain (4);	.	.	.	.	T	0.57446	0.2054	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68458	-0.5403	9	0.87932	D	0	.	18.8152	0.92075	0.0:1.0:0.0:0.0	.	189;570	B7WPD9;Q2KJY2	.;KI26B_HUMAN	S	570;189;186	ENSP00000385545:P570S;ENSP00000355475:P189S	ENSP00000355475:P189S	P	+	1	0	KIF26B	243839247	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.776000	0.85560	2.520000	0.84964	0.650000	0.86243	CCC		0.532	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		11	18	0	0	0	6.40141e-05	0	11	18		
OR2G2	81470	broad.mit.edu	37	1	247751675	247751675	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247751675G>C	ENST00000320065.1	+	1	14	c.14G>C	c.(13-15)aGa>aCa	p.R5T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGATGGTGAGACATACCAAT	0.413																																						uc010pyy.1		NaN																	0					0						c.(13-15)AGA>ACA		olfactory receptor, family 2, subfamily G,							159.0	146.0	150.0					1																	247751675		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751675G>C	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.14G>C	1.37:g.247751675G>C	ENSP00000326349:p.Arg5Thr						p.R5T	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	14	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		5			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.14G>C	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.155046	0.21371	.	.	ENSG00000177489	ENST00000320065	T	0.00325	8.1	4.1	-3.22	0.05125	.	.	.	.	.	T	0.00109	0.0003	N	0.12443	0.215	0.09310	N	1	B	0.27068	0.167	B	0.23275	0.045	T	0.07309	-1.0779	9	0.41790	T	0.15	.	3.6663	0.08257	0.476:0.0:0.2235:0.3005	.	5	Q8NGZ5	OR2G2_HUMAN	T	5	ENSP00000326349:R5T	ENSP00000326349:R5T	R	+	2	0	OR2G2	245818298	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	-0.458000	0.06737	-0.266000	0.09339	-0.266000	0.10368	AGA		0.413	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1				24	98	0	0	0	0.000491102	0	24	98		
OR2G2	81470	broad.mit.edu	37	1	247751725	247751725	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247751725G>C	ENST00000320065.1	+	1	64	c.64G>C	c.(64-66)Gat>Cat	p.D22H	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGGTTTTCTGATTATCCTCA	0.413																																						uc010pyy.1		NaN																	0					0						c.(64-66)GAT>CAT		olfactory receptor, family 2, subfamily G,							183.0	176.0	179.0					1																	247751725		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751725G>C	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.64G>C	1.37:g.247751725G>C	ENSP00000326349:p.Asp22His						p.D22H	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	64	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		22			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.64G>C	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663306	0.47572	.	.	ENSG00000177489	ENST00000320065	T	0.00042	8.84	3.79	3.79	0.43588	.	0.000000	0.33895	U	0.004458	T	0.00384	0.0012	M	0.78049	2.395	0.09310	N	0.999999	D	0.56746	0.977	P	0.58391	0.838	T	0.45411	-0.9263	10	0.72032	D	0.01	.	13.2408	0.59995	0.0:0.0:1.0:0.0	.	22	Q8NGZ5	OR2G2_HUMAN	H	22	ENSP00000326349:D22H	ENSP00000326349:D22H	D	+	1	0	OR2G2	245818348	0.000000	0.05858	0.691000	0.30163	0.874000	0.50279	0.443000	0.21644	1.925000	0.55765	0.591000	0.81541	GAT		0.413	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1				22	109	0	0	0	0.000147802	0	22	109		
OR2G2	81470	broad.mit.edu	37	1	247752001	247752001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752001G>A	ENST00000320065.1	+	1	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGATCCACTGAGTGCGTCCT	0.527																																						uc010pyy.1		NaN																	0					0						c.(340-342)GAG>AAG		olfactory receptor, family 2, subfamily G,							258.0	205.0	223.0					1																	247752001		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752001G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.340G>A	1.37:g.247752001G>A	ENSP00000326349:p.Glu114Lys						p.E114K	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	340	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		114			Helical; Name=3; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.340G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610283	0.66558	.	.	ENSG00000177489	ENST00000320065	T	0.01804	4.63	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35179	U	0.003391	T	0.16171	0.0389	H	0.95574	3.69	0.18873	N	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.11966	-1.0566	10	0.87932	D	0	.	14.3294	0.66545	0.0:0.0:1.0:0.0	.	114	Q8NGZ5	OR2G2_HUMAN	K	114	ENSP00000326349:E114K	ENSP00000326349:E114K	E	+	1	0	OR2G2	245818624	0.327000	0.24678	0.964000	0.40570	0.919000	0.55068	2.494000	0.45329	2.206000	0.71126	0.591000	0.81541	GAG		0.527	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1				40	122	0	0	0	0.000509022	0	40	122		
OR2G2	81470	broad.mit.edu	37	1	247752462	247752462	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752462G>T	ENST00000320065.1	+	1	801	c.801G>T	c.(799-801)aaG>aaT	p.K267N	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			agCCAGCCAAGAGTAGATCCA	0.483																																						uc010pyy.1		NaN																	0					0						c.(799-801)AAG>AAT		olfactory receptor, family 2, subfamily G,							137.0	129.0	131.0					1																	247752462		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752462G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.801G>T	1.37:g.247752462G>T	ENSP00000326349:p.Lys267Asn						p.K267N	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	801	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		267			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.801G>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	0.500	-0.871512	0.02570	.	.	ENSG00000177489	ENST00000320065	T	0.00091	8.74	4.29	0.0732	0.14389	GPCR, rhodopsin-like superfamily (1);	0.383971	0.18210	N	0.148229	T	0.00073	0.0002	N	0.20807	0.61	0.21416	N	0.999698	B	0.14805	0.011	B	0.23150	0.044	T	0.10042	-1.0647	10	0.10111	T	0.7	.	4.7929	0.13257	0.2716:0.0:0.5779:0.1505	.	267	Q8NGZ5	OR2G2_HUMAN	N	267	ENSP00000326349:K267N	ENSP00000326349:K267N	K	+	3	2	OR2G2	245819085	0.000000	0.05858	0.663000	0.29738	0.923000	0.55619	-1.932000	0.01554	0.095000	0.17434	0.591000	0.81541	AAG		0.483	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1				41	145	1	0	1.62957e-23	0.000374591	2.69465e-22	41	145		
OR2G2	81470	broad.mit.edu	37	1	247752580	247752580	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752580G>T	ENST00000320065.1	+	1	919	c.919G>T	c.(919-921)Gtt>Ttt	p.V307F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTAAAGAAAGTTCTAGCAAA	0.343																																						uc010pyy.1		NaN																	0					0						c.(919-921)GTT>TTT		olfactory receptor, family 2, subfamily G,							60.0	65.0	63.0					1																	247752580		2203	4298	6501	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752580G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.919G>T	1.37:g.247752580G>T	ENSP00000326349:p.Val307Phe						p.V307F	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	919	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		307			Cytoplasmic (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.919G>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305851	0.23736	.	.	ENSG00000177489	ENST00000320065	T	0.38240	1.15	4.05	-0.471	0.12119	.	.	.	.	.	T	0.20941	0.0504	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22103	-1.0226	9	0.59425	D	0.04	.	4.4242	0.11495	0.3055:0.0:0.5408:0.1537	.	307	Q8NGZ5	OR2G2_HUMAN	F	307	ENSP00000326349:V307F	ENSP00000326349:V307F	V	+	1	0	OR2G2	245819203	0.000000	0.05858	0.004000	0.12327	0.074000	0.17049	-1.603000	0.02077	-0.003000	0.14444	-0.521000	0.04368	GTT		0.343	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1				32	117	1	0	2.08457e-15	0.000339439	3.39619e-14	32	117		
FBXO18	84893	broad.mit.edu	37	10	5959443	5959443	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:5959443G>C	ENST00000362091.4	+	11	1964	c.1849G>C	c.(1849-1851)Gaa>Caa	p.E617Q	FBXO18_ENST00000379999.5_Missense_Mutation_p.E668Q|FBXO18_ENST00000397269.3_Missense_Mutation_p.E104Q	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	617					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGAGTGCACAGAAGAGGCGCA	0.577																																						uc001iis.2		NaN																	0				ovary(2)|skin(1)	3						c.(1849-1851)GAA>CAA		F-box only protein, helicase, 18 isoform 2							58.0	62.0	61.0					10																	5959443		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5959443G>C	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1849G>C	10.37:g.5959443G>C	ENSP00000355415:p.Glu617Gln					FBXO18_uc001iir.2_Missense_Mutation_p.E543Q|FBXO18_uc009xig.2_Missense_Mutation_p.E543Q|FBXO18_uc001iit.2_Missense_Mutation_p.E668Q	p.E617Q	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			11	1944	+			617					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.1849G>C	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545267	0.45280	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	D;D;D	0.81996	-1.56;-1.56;-1.56	5.51	5.51	0.81932	.	0.217646	0.45867	D	0.000322	T	0.71013	0.3290	N	0.20685	0.6	0.42385	D	0.992508	P;B;B	0.34864	0.473;0.342;0.226	B;B;B	0.27887	0.084;0.057;0.024	T	0.71988	-0.4426	10	0.36615	T	0.2	-22.2257	16.1913	0.81989	0.0:0.0:1.0:0.0	.	668;617;543	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	104;617;354;668;354	ENSP00000355415:E617Q;ENSP00000369335:E668Q;ENSP00000369330:E354Q	ENSP00000355415:E617Q	E	+	1	0	FBXO18	5999449	1.000000	0.71417	0.988000	0.46212	0.596000	0.36781	3.377000	0.52425	2.584000	0.87258	0.650000	0.86243	GAA		0.577	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807		22	43	0	0	0	0.00047179	0	22	43		
DCLRE1C	64421	broad.mit.edu	37	10	14974951	14974951	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:14974951G>C	ENST00000378278.2	-	9	719	c.682C>G	c.(682-684)Cat>Gat	p.H228D	DCLRE1C_ENST00000378246.2_Missense_Mutation_p.H113D|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.H228D|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.H113D|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.H108D|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.H113D			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	228					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTATTCACATGAACCTAAGGC	0.393								Non-homologous end-joining																														uc001inn.2		NaN																	0				ovary(1)	1						c.(682-684)CAT>GAT	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							178.0	147.0	158.0					10																	14974951		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14974951G>C	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.682C>G	10.37:g.14974951G>C	ENSP00000367527:p.His228Asp					DCLRE1C_uc010qbx.1_Missense_Mutation_p.H228D|DCLRE1C_uc001inl.2_Missense_Mutation_p.H108D|DCLRE1C_uc009xji.2_Missense_Mutation_p.H113D|DCLRE1C_uc001inm.2_Missense_Mutation_p.H108D|DCLRE1C_uc001ino.2_Missense_Mutation_p.H113D|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.H108D|DCLRE1C_uc001inq.2_Missense_Mutation_p.H108D|DCLRE1C_uc001inr.2_Missense_Mutation_p.H113D|DCLRE1C_uc009xjj.1_RNA	p.H228D	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			9	767	-			228					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.682C>G	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542166	0.85917	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843	T;T;T;T;T;T;T;T;T;T;D	0.82803	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-1.65	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.68593	2.085	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.97;0.996	D	0.91286	0.5055	10	0.72032	D	0.01	.	18.9759	0.92736	0.0:0.0:1.0:0.0	.	228;113;228	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	D	228;108;113;113;113;108;108;108;228;108;82	ENSP00000367538:H228D;ENSP00000400529:H108D;ENSP00000367492:H113D;ENSP00000350349:H113D;ENSP00000367496:H113D;ENSP00000380030:H108D;ENSP00000367503:H108D;ENSP00000367502:H108D;ENSP00000367527:H228D;ENSP00000367506:H108D;ENSP00000391428:H82D	ENSP00000350349:H113D	H	-	1	0	DCLRE1C	15014957	1.000000	0.71417	0.962000	0.40283	0.858000	0.48976	9.590000	0.98238	2.474000	0.83562	0.650000	0.86243	CAT		0.393	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1		NM_022487		19	171	0	0	0	0.000132079	0	19	171		
CACNB2	783	broad.mit.edu	37	10	18803285	18803285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:18803285C>G	ENST00000324631.7	+	7	851	c.791C>G	c.(790-792)cCc>cGc	p.P264R	CACNB2_ENST00000396576.2_Missense_Mutation_p.P209R|CACNB2_ENST00000377329.4_Missense_Mutation_p.P210R|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.P236R|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.P216R|RP11-499P20.2_ENST00000425669.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	264					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAAAGAATGCCCTTCTTTAAG	0.468																																						uc001ipr.2		NaN																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(790-792)CCC>CGC		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						147.0	135.0	139.0					10																	18803285		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18803285C>G	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.791C>G	10.37:g.18803285C>G	ENSP00000320025:p.Pro264Arg					CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Missense_Mutation_p.P236R|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.P209R|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Missense_Mutation_p.P210R|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.P210R|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.P216R|NSUN6_uc001iqb.2_Intron	p.P264R	NM_201596	NP_963890	Q08289	CACB2_HUMAN			7	851	+			264					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.791C>G	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326219	0.60743	.	.	ENSG00000165995	ENST00000324631;ENST00000282343;ENST00000396576;ENST00000377329;ENST00000377315	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.86	5.86	0.93980	Src homology-3 domain (1);	0.053636	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	B;P;B;P;B;B	0.40302	0.079;0.523;0.13;0.712;0.13;0.079	B;B;B;B;B;B	0.38106	0.079;0.248;0.23;0.265;0.23;0.058	D	0.86518	0.1814	10	0.56958	D	0.05	-22.2507	20.1996	0.98256	0.0:1.0:0.0:0.0	.	210;216;210;220;236;264	Q5QJ99;Q5VVH1;Q08289-3;Q59H42;Q08289-4;Q08289	.;.;.;.;.;CACB2_HUMAN	R	264;236;209;210;216	ENSP00000320025:P264R;ENSP00000282343:P236R;ENSP00000379821:P209R;ENSP00000366546:P210R;ENSP00000366532:P216R	ENSP00000282343:P236R	P	+	2	0	CACNB2	18843291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	CCC		0.468	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2		NM_000724		29	142	0	0	0	0.000339439	0	29	142		
SYT15	83849	broad.mit.edu	37	10	46967615	46967615	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:46967615C>T	ENST00000374321.4	-	4	528	c.462G>A	c.(460-462)tcG>tcA	p.S154S	SYT15_ENST00000503753.1_Silent_p.S154S|SYT15_ENST00000374325.3_Silent_p.S154S|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Silent_p.S207S	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	154	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATATTCCACCGAGAACCACA	0.622																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NaN																	0					0						c.(460-462)TCG>TCA		synaptotagmin XV isoform a							53.0	66.0	62.0					10																	46967615		2036	4187	6223	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46967615C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.462G>A	10.37:g.46967615C>T						SYT15_uc001jdz.2_Silent_p.S154S|SYT15_uc001jeb.2_Silent_p.S32S|SYT15_uc010qfp.1_RNA	p.S154S	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			4	615	-			154			Cytoplasmic (Potential).|C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.462G>A	CCDS44376.1																																																																																				0.622	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912		9	95	0	0	0	0.000274275	0	9	95		
PLEKHS1	79949	broad.mit.edu	37	10	115534019	115534019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:115534019G>T	ENST00000369310.3	+	8	1250	c.688G>T	c.(688-690)Gaa>Taa	p.E230*	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000361048.1_Nonsense_Mutation_p.E236*|PLEKHS1_ENST00000369309.1_Nonsense_Mutation_p.E50*|PLEKHS1_ENST00000369312.4_Nonsense_Mutation_p.E148*	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	230								p.E236*(1)									TGATTCTGGTGAATCCATTGA	0.378																																						uc001lat.1		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(688-690)GAA>TAA		hypothetical protein LOC79949							126.0	115.0	119.0					10																	115534019		2203	4300	6503	SO:0001587	stop_gained	79949							g.chr10:115534019G>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.688G>T	10.37:g.115534019G>T	ENSP00000358316:p.Glu230*					C10orf81_uc001lar.1_Nonsense_Mutation_p.E236*|C10orf81_uc009xyc.1_Nonsense_Mutation_p.E148*|C10orf81_uc001las.1_Nonsense_Mutation_p.E148*|C10orf81_uc001lau.1_Nonsense_Mutation_p.E50*	p.E230*	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	8	1250	+		Colorectal(252;0.175)	230					A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Nonsense_Mutation	SNP	ENST00000369310.3	37	c.688G>T	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	39	7.750318	0.98468	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309	.	.	.	5.74	1.83	0.25207	.	0.600781	0.18322	N	0.144762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-8.5005	4.4793	0.11759	0.2619:0.1643:0.5739:0.0	.	.	.	.	X	236;148;230;50	.	ENSP00000354332:E236X	E	+	1	0	C10orf81	115524009	0.097000	0.21791	0.004000	0.12327	0.075000	0.17131	1.021000	0.30040	0.356000	0.24157	0.563000	0.77884	GAA		0.378	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1		NM_024889		33	45	1	0	2.47316e-13	0.00058488	3.98229e-12	33	45		
FAM160B1	57700	broad.mit.edu	37	10	116602857	116602857	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:116602857C>A	ENST00000369248.4	+	6	1023	c.688C>A	c.(688-690)Cat>Aat	p.H230N	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H230N	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	230										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAGCCTCCTCATCAGATGGA	0.473																																						uc001lcb.2		NaN																	0				lung(1)	1						c.(688-690)CAT>AAT		hypothetical protein LOC57700 isoform a							162.0	130.0	141.0					10																	116602857		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116602857C>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.688C>A	10.37:g.116602857C>A	ENSP00000358251:p.His230Asn					FAM160B1_uc001lcc.2_Missense_Mutation_p.H230N	p.H230N	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			6	1023	+			230					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.688C>A	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	0.140	-1.103364	0.01828	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.63744	-0.06;-0.06	4.94	4.94	0.65067	.	0.890844	0.09829	N	0.750464	T	0.42245	0.1194	N	0.04880	-0.145	0.20873	N	0.999832	B;B	0.16166	0.016;0.014	B;B	0.20384	0.029;0.023	T	0.13522	-1.0506	10	0.16420	T	0.52	-0.0358	13.017	0.58764	0.0:0.8383:0.1617:0.0	.	230;230	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	N	230	ENSP00000358251:H230N;ENSP00000358253:H230N	ENSP00000358251:H230N	H	+	1	0	FAM160B1	116592847	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.721000	0.25911	2.299000	0.77371	0.514000	0.50259	CAT		0.473	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1		XM_049351		18	64	1	0	1.99824e-07	0.000566183	3.17134e-06	18	64		
FAM160B1	57700	broad.mit.edu	37	10	116602895	116602895	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:116602895C>T	ENST00000369248.4	+	6	1061	c.726C>T	c.(724-726)ctC>ctT	p.L242L	FAM160B1_ENST00000369250.3_Silent_p.L242L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	242										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGGATAACCTCAGTGTCACCT	0.438																																						uc001lcb.2		NaN																	0				lung(1)	1						c.(724-726)CTC>CTT		hypothetical protein LOC57700 isoform a							161.0	132.0	142.0					10																	116602895		2203	4300	6503	SO:0001819	synonymous_variant	57700							g.chr10:116602895C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.726C>T	10.37:g.116602895C>T						FAM160B1_uc001lcc.2_Silent_p.L242L	p.L242L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			6	1061	+			242					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.726C>T	CCDS31290.1																																																																																				0.438	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1		XM_049351		20	72	0	0	0	0.000175454	0	20	72		
UROS	7390	broad.mit.edu	37	10	127505020	127505020	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:127505020C>G	ENST00000368797.4	-	2	273	c.49G>C	c.(49-51)Gat>Cat	p.D17H	UROS_ENST00000368778.3_Missense_Mutation_p.D17H|UROS_ENST00000368786.1_Missense_Mutation_p.D17H|UROS_ENST00000368774.1_Missense_Mutation_p.D17H	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	17					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ATATACGGATCCTGGCCACAG	0.502																																						uc001liw.3		NaN																	0					0						c.(49-51)GAT>CAT		uroporphyrinogen III synthase							144.0	123.0	130.0					10																	127505020		2203	4300	6503	SO:0001583	missense	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127505020C>G	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.49G>C	10.37:g.127505020C>G	ENSP00000357787:p.Asp17His					UROS_uc001liv.3_5'Flank|UROS_uc010quh.1_5'Flank|UROS_uc001lix.3_Missense_Mutation_p.D17H|UROS_uc001liy.3_RNA|UROS_uc001liz.2_5'Flank	p.D17H	NM_000375	NP_000366	P10746	HEM4_HUMAN			1	182	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	17					B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	ENST00000368797.4	37	c.49G>C	CCDS7648.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679313	0.68042	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.17	5.17	0.71159	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (1);	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97896	1.0300	10	0.87932	D	0	-25.5966	15.6934	0.77473	0.0:1.0:0.0:0.0	.	17	P10746	HEM4_HUMAN	H	17	ENSP00000357787:D17H;ENSP00000357775:D17H;ENSP00000414833:D17H;ENSP00000357767:D17H;ENSP00000357763:D17H	ENSP00000357763:D17H	D	-	1	0	UROS	127495010	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.660000	0.61511	2.678000	0.91216	0.655000	0.94253	GAT		0.502	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1		NM_000375		17	91	0	0	0	0.000566183	0	17	91		
OSBPL5	114879	broad.mit.edu	37	11	3111812	3111812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:3111812C>T	ENST00000263650.7	-	20	2533	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	OSBPL5_ENST00000542243.1_Missense_Mutation_p.E423K|OSBPL5_ENST00000478260.1_Missense_Mutation_p.E246K|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E724K|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E724K|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E703K	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	792					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATCCTGCTCCTCGTCTGAG	0.682																																						uc001lxk.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(2374-2376)GAG>AAG		oxysterol-binding protein-like protein 5 isoform							70.0	68.0	68.0					11																	3111812		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3111812C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2374G>A	11.37:g.3111812C>T	ENSP00000263650:p.Glu792Lys					OSBPL5_uc010qxq.1_Missense_Mutation_p.E703K|OSBPL5_uc009ydw.2_Missense_Mutation_p.E724K|OSBPL5_uc001lxl.2_Missense_Mutation_p.E724K|OSBPL5_uc001lxj.2_Missense_Mutation_p.E246K	p.E792K	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	20	2532	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	792					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.2374G>A	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514986	0.44763	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039	T;T;T;T;T;T;T	0.47528	0.84;1.45;1.46;0.88;1.46;0.85;1.46	3.81	2.89	0.33648	.	.	.	.	.	T	0.34948	0.0915	L	0.38175	1.15	0.33822	D	0.629115	B;P;P	0.38020	0.213;0.615;0.615	B;B;B	0.41510	0.029;0.269;0.359	T	0.33317	-0.9873	9	0.09338	T	0.73	.	7.712	0.28684	0.0:0.8776:0.0:0.1224	.	703;724;792	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	K	246;792;724;345;703;423;724	ENSP00000437141:E246K;ENSP00000263650:E792K;ENSP00000374639:E724K;ENSP00000431412:E345K;ENSP00000433342:E703K;ENSP00000441551:E423K;ENSP00000302872:E724K	ENSP00000263650:E792K	E	-	1	0	OSBPL5	3068388	1.000000	0.71417	0.983000	0.44433	0.506000	0.33950	3.719000	0.54926	1.657000	0.50732	0.549000	0.68633	GAG		0.682	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2				16	33	0	0	0	0.000566183	0	16	33		
SPTY2D1	144108	broad.mit.edu	37	11	18637037	18637037	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:18637037C>T	ENST00000336349.5	-	3	1019	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	262										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GATTTCTTCTCAGCATGAGGA	0.483																																						uc001moy.2		NaN																	0				breast(1)	1						c.(784-786)GAG>AAG		SPT2, Suppressor of Ty, domain containing 1							137.0	124.0	129.0					11																	18637037		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18637037C>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.784G>A	11.37:g.18637037C>T	ENSP00000337991:p.Glu262Lys					SPTY2D1_uc010rdi.1_Missense_Mutation_p.E262K	p.E262K	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	1000	-			262					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.784G>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881964	0.51908	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.34859	1.34	5.95	5.95	0.96441	.	0.515069	0.22400	N	0.060557	T	0.47002	0.1422	L	0.34521	1.04	0.48762	D	0.999709	D	0.67145	0.996	P	0.58331	0.837	T	0.23940	-1.0174	10	0.45353	T	0.12	-9.4786	18.5607	0.91098	0.0:1.0:0.0:0.0	.	262	Q68D10	SPT2_HUMAN	K	262	ENSP00000337991:E262K	ENSP00000331447:E262K	E	-	1	0	SPTY2D1	18593613	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	3.343000	0.52167	2.822000	0.97130	0.563000	0.77884	GAG		0.483	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1		NM_194285		50	33	0	0	0	0.000147903	0	50	33		
BBOX1	8424	broad.mit.edu	37	11	27148986	27148986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:27148986G>A	ENST00000529202.1	+	8	1489	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	BBOX1_ENST00000263182.3_Missense_Mutation_p.E384K|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.E384K|BBOX1_ENST00000528583.1_Missense_Mutation_p.E384K|RP11-1L12.3_ENST00000530430.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	384					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCAGAGGGTGGAGAATGGAAA	0.413																																						uc001mre.1		NaN																	0				ovary(1)	1						c.(1150-1152)GAG>AAG		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						106.0	96.0	99.0					11																	27148986		2202	4299	6501	SO:0001583	missense	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27148986G>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.1150G>A	11.37:g.27148986G>A	ENSP00000435781:p.Glu384Lys					BBOX1_uc009yih.1_Missense_Mutation_p.E384K|BBOX1_uc001mrg.1_Missense_Mutation_p.E384K	p.E384K	NM_003986	NP_003977	O75936	BODG_HUMAN			9	1518	+			384					B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.1150G>A	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	G	7.643	0.681268	0.14907	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.79	-7.53	0.01336	.	1.458800	0.03639	N	0.239210	T	0.61527	0.2354	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58679	-0.7594	10	0.06891	T	0.86	.	9.6466	0.39872	0.3882:0.3202:0.2915:0.0	.	384	O75936	BODG_HUMAN	K	384	ENSP00000435781:E384K;ENSP00000263182:E384K;ENSP00000434918:E384K;ENSP00000433772:E384K	ENSP00000263182:E384K	E	+	1	0	BBOX1	27105562	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.467000	0.06664	-1.025000	0.03334	-0.137000	0.14449	GAG		0.413	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1		NM_003986		19	50	0	0	0	0.000132079	0	19	50		
QSER1	79832	broad.mit.edu	37	11	32975498	32975498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:32975498C>G	ENST00000399302.2	+	5	4221	c.3886C>G	c.(3886-3888)Ctc>Gtc	p.L1296V	QSER1_ENST00000527788.1_Missense_Mutation_p.L1057V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1296										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					gcaagaacctctccactctac	0.443																																						uc001mty.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3886-3888)CTC>GTC		glutamine and serine rich 1							105.0	96.0	99.0					11																	32975498		1890	4114	6004	SO:0001583	missense	79832							g.chr11:32975498C>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3886C>G	11.37:g.32975498C>G	ENSP00000382241:p.Leu1296Val					QSER1_uc001mtz.1_Missense_Mutation_p.L1057V|QSER1_uc001mua.2_Missense_Mutation_p.L801V	p.L1296V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			5	4153	+	Breast(20;0.158)		1296					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3886C>G	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646699	0.00792	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.22743	2.27;1.94	5.92	1.8	0.24995	.	0.469626	0.17654	N	0.166571	T	0.17152	0.0412	L	0.50333	1.59	0.09310	N	1	B;B;B	0.27656	0.005;0.184;0.001	B;B;B	0.22753	0.008;0.041;0.004	T	0.14172	-1.0482	10	0.41790	T	0.15	.	8.1168	0.30948	0.0:0.6024:0.2179:0.1796	.	1057;1057;1296	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	V	1296;1057;1057	ENSP00000382241:L1296V;ENSP00000432766:L1057V	ENSP00000078652:L1057V	L	+	1	0	QSER1	32932074	0.626000	0.27120	0.223000	0.23860	0.007000	0.05969	1.305000	0.33493	0.839000	0.34971	-1.269000	0.01422	CTC		0.443	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774		9	17	0	0	0	0.000442599	0	9	17		
HIPK3	10114	broad.mit.edu	37	11	33308267	33308267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:33308267C>T	ENST00000303296.4	+	2	612	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	HIPK3_ENST00000379016.3_Missense_Mutation_p.H103Y|HIPK3_ENST00000525975.1_Missense_Mutation_p.H103Y|HIPK3_ENST00000456517.1_Missense_Mutation_p.H103Y	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	103					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ACAGCAAGCTCACGTGCAGGC	0.502																																						uc001mul.1		NaN																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(307-309)CAC>TAC		homeodomain interacting protein kinase 3 isoform							75.0	67.0	70.0					11																	33308267		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308267C>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.307C>T	11.37:g.33308267C>T	ENSP00000304226:p.His103Tyr					HIPK3_uc001mum.1_Missense_Mutation_p.H103Y|HIPK3_uc009yjv.1_Missense_Mutation_p.H103Y	p.H103Y	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			2	577	+			103					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.307C>T	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	0.754	-0.771907	0.02951	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.51574	0.72;0.7;0.72;0.72	5.51	3.61	0.41365	.	1.367620	0.04561	N	0.391654	T	0.29126	0.0724	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.011;0.017	B;B	0.21708	0.036;0.006	T	0.18967	-1.0320	10	0.07030	T	0.85	.	9.9929	0.41883	0.0:0.6581:0.2702:0.0717	.	103;103	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Y	103	ENSP00000431710:H103Y;ENSP00000304226:H103Y;ENSP00000368301:H103Y;ENSP00000398241:H103Y	ENSP00000304226:H103Y	H	+	1	0	HIPK3	33264843	0.953000	0.32496	0.047000	0.18901	0.021000	0.10359	3.250000	0.51445	0.676000	0.31285	0.484000	0.47621	CAC		0.502	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734		19	19	0	0	0	9.7654e-05	0	19	19		
SPI1	6688	broad.mit.edu	37	11	47397226	47397226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:47397226C>T	ENST00000378538.3	-	2	322	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SPI1_ENST00000227163.4_Missense_Mutation_p.E35K|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.E34K	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	34					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGGTAATACTCGTGCGTTTGG	0.622																																						uc001nfc.1		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(100-102)GAG>AAG		hematopoietic transcription factor PU.1 isoform							213.0	177.0	189.0					11																	47397226		2201	4298	6499	SO:0001583	missense	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47397226C>T	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.100G>A	11.37:g.47397226C>T	ENSP00000367799:p.Glu34Lys					SPI1_uc001nfb.1_Missense_Mutation_p.E35K|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.E28K	p.E34K	NM_003120	NP_003111	P17947	SPI1_HUMAN		Lung(87;0.0967)	2	323	-			34						Missense_Mutation	SNP	ENST00000378538.3	37	c.100G>A	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619453	0.46736	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T	0.21361	2.07;2.01	4.6	4.6	0.57074	.	0.221758	0.45361	D	0.000366	T	0.30885	0.0779	L	0.55481	1.735	0.30851	N	0.734642	D;P;D	0.64830	0.994;0.881;0.984	P;B;P	0.51415	0.669;0.202;0.638	T	0.26916	-1.0089	10	0.51188	T	0.08	-6.1391	14.1393	0.65308	0.0:1.0:0.0:0.0	.	34;34;35	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	K	34;35;34	ENSP00000367799:E34K;ENSP00000227163:E35K	ENSP00000227163:E35K	E	-	1	0	SPI1	47353802	0.974000	0.33945	0.132000	0.22025	0.299000	0.27559	4.391000	0.59652	2.082000	0.62665	0.455000	0.32223	GAG		0.622	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1		NM_003120		44	36	0	0	0	0.000147903	0	44	36		
MS4A3	932	broad.mit.edu	37	11	59828720	59828720	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:59828720G>C	ENST00000278865.3	+	2	160	c.87G>C	c.(85-87)ctG>ctC	p.L29L	MS4A3_ENST00000534744.1_Silent_p.L29L|MS4A3_ENST00000358152.2_Silent_p.L29L|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	29						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGAAGAGCTGAATACTTCTG	0.478																																						uc001nom.2		NaN																	0				ovary(2)|skin(1)	3						c.(85-87)CTG>CTC		membrane-spanning 4-domains, subfamily A, member							108.0	102.0	104.0					11																	59828720		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828720G>C	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.87G>C	11.37:g.59828720G>C						MS4A3_uc001non.2_Silent_p.L29L|MS4A3_uc001noo.2_Intron	p.L29L	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			2	215	+		all_epithelial(135;0.245)	29			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.87G>C	CCDS31567.1																																																																																				0.478	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1				37	70	0	0	0	0.000132358	0	37	70		
CD6	923	broad.mit.edu	37	11	60785351	60785351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:60785351C>T	ENST00000313421.7	+	11	1889	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	CD6_ENST00000352009.5_Missense_Mutation_p.S536L|CD6_ENST00000452451.2_Missense_Mutation_p.S527L|CD6_ENST00000346437.4_Missense_Mutation_p.S495L|CD6_ENST00000344028.5_Missense_Mutation_p.S536L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	568					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGCACCTCTTCAGGGGAGGAT	0.567																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NaN																	0				pancreas(1)	1						c.(1702-1704)TCA>TTA		CD6 molecule precursor							79.0	80.0	79.0					11																	60785351		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785351C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1703C>T	11.37:g.60785351C>T	ENSP00000323280:p.Ser568Leu					CD6_uc001nqp.2_Missense_Mutation_p.S568L|CD6_uc001nqr.2_Missense_Mutation_p.S536L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.S527L	p.S568L	NM_006725	NP_006716	P30203	CD6_HUMAN			11	1926	+			568			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1703C>T	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640199	0.47153	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	T;T;T;T;T	0.03124	4.12;4.04;4.27;4.14;4.12	5.31	5.31	0.75309	.	0.792445	0.10732	N	0.640552	T	0.18045	0.0433	M	0.66939	2.045	0.30470	N	0.773378	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.928;0.991	T	0.01424	-1.1358	10	0.87932	D	0	.	14.4929	0.67665	0.0:1.0:0.0:0.0	.	527;536;568;568	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	L	536;495;568;527;536	ENSP00000344108:S536L;ENSP00000345566:S495L;ENSP00000323280:S568L;ENSP00000390676:S527L;ENSP00000340628:S536L	ENSP00000323280:S568L	S	+	2	0	CD6	60541927	0.726000	0.28059	0.094000	0.20943	0.040000	0.13550	3.754000	0.55189	2.497000	0.84241	0.467000	0.42956	TCA		0.567	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1		NM_006725		22	61	0	0	0	0.000375601	0	22	61		
HRASLS2	54979	broad.mit.edu	37	11	63320520	63320520	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:63320520C>T	ENST00000255695.1	-	4	463	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	135					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CACCTACTGTCGTGACTGCAC	0.562																																						uc001nxg.1		NaN																	0					0						c.(403-405)ACG>ACA		HRAS-like suppressor 2							68.0	65.0	66.0					11																	63320520		2201	4298	6499	SO:0001819	synonymous_variant	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63320520C>T		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.405G>A	11.37:g.63320520C>T							p.T135T	NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN			4	464	-			135					B9A7L8	Silent	SNP	ENST00000255695.1	37	c.405G>A	CCDS8046.1																																																																																				0.562	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1		NM_017878		27	95	0	0	0	9.22233e-05	0	27	95		
PLCB3	5331	broad.mit.edu	37	11	64032897	64032897	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:64032897C>T	ENST00000540288.1	+	25	3061	c.2958C>T	c.(2956-2958)gtC>gtT	p.V986V	PLCB3_ENST00000325234.5_Silent_p.V919V|PLCB3_ENST00000279230.6_Silent_p.V986V	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	986					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGAAGGCAGTCACCCTCACCC	0.682																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2956-2958)GTC>GTT		phospholipase C beta 3							20.0	23.0	22.0					11																	64032897		2185	4266	6451	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64032897C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2958C>T	11.37:g.64032897C>T						PLCB3_uc009ypg.1_Silent_p.V986V|PLCB3_uc009yph.1_Silent_p.V919V|PLCB3_uc009ypi.2_Silent_p.V986V	p.V986V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			25	2958	+			986					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.2958C>T	CCDS8064.1																																																																																				0.682	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				8	19	0	0	0	3.86212e-05	0	8	19		
SLC29A2	3177	broad.mit.edu	37	11	66134019	66134019	+	Silent	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:66134019G>T	ENST00000357440.2	-	8	978	c.750C>A	c.(748-750)ccC>ccA	p.P250P	SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000546034.1_Silent_p.P250P|SLC29A2_ENST00000544554.1_Silent_p.P250P	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	250					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGGGACTACTGGGAATCCCGT	0.582																																						uc001oht.2		NaN																	0				ovary(1)	1						c.(748-750)CCC>CCA		solute carrier family 29 (nucleoside							51.0	49.0	50.0					11																	66134019		2200	4295	6495	SO:0001819	synonymous_variant	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66134019G>T	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.750C>A	11.37:g.66134019G>T						SLC29A2_uc001ohs.2_Silent_p.P130P|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.P130P|SLC29A2_uc001ohu.2_Silent_p.P250P|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	p.P250P	NM_001532	NP_001523	Q14542	S29A2_HUMAN			8	979	-			250					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Silent	SNP	ENST00000357440.2	37	c.750C>A	CCDS8137.1																																																																																				0.582	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1		NM_001532		10	35	1	0	6.40141e-05	6.40141e-05	0.000982083	10	35		
ANKRD13D	338692	broad.mit.edu	37	11	67059207	67059207	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:67059207C>T	ENST00000447274.2	+	5	1445	c.270C>T	c.(268-270)ttC>ttT	p.F90F	ANKRD13D_ENST00000511455.2_Silent_p.F177F|ANKRD13D_ENST00000308440.6_Silent_p.F90F|ANKRD13D_ENST00000514166.1_Silent_p.F90F			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	90						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTTCATCTTCAAGGGCCAGG	0.612																																						uc001okc.1		NaN																	0				ovary(1)	1						c.(268-270)TTC>TTT		ankyrin repeat domain 13 family, member D							56.0	52.0	54.0					11																	67059207		2200	4295	6495	SO:0001819	synonymous_variant	338692							g.chr11:67059207C>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.270C>T	11.37:g.67059207C>T						ANKRD13D_uc001okd.1_Silent_p.F177F|ANKRD13D_uc001oke.1_Silent_p.F90F	p.F90F	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		6	781	+			90					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	ENST00000447274.2	37	c.270C>T																																																																																					0.612	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2		NM_207354		7	42	0	0	0	0.000157383	0	7	42		
USP35	57558	broad.mit.edu	37	11	77919932	77919932	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:77919932C>G	ENST00000529308.1	+	9	1776	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	USP35_ENST00000530267.1_Silent_p.L73L|USP35_ENST00000526425.1_Silent_p.L236L|USP35_ENST00000441408.2_Silent_p.L91L|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	505	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGAACTTCCTCTCCGCATCCT	0.622																																						uc009yva.1		NaN																	0				lung(2)|ovary(1)	3						c.(1513-1515)CTC>CTG		ubiquitin specific protease 35							97.0	102.0	101.0					11																	77919932		2075	4190	6265	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77919932C>G	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1515C>G	11.37:g.77919932C>G						USP35_uc001oze.2_Silent_p.L261L|USP35_uc001ozc.2_Silent_p.L73L|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Silent_p.L116L|USP35_uc001ozf.2_Silent_p.L236L	p.L505L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	1761	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		505						Silent	SNP	ENST00000529308.1	37	c.1515C>G	CCDS41693.1																																																																																				0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		XM_290527		53	98	0	0	0	0.000147903	0	53	98		
DYNC2H1	79659	broad.mit.edu	37	11	103152912	103152912	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:103152912G>T	ENST00000375735.2	+	72	10910	c.10766G>T	c.(10765-10767)tGg>tTg	p.W3589L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3596L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3589					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATAGGAATGGGATACGTTT	0.284																																						uc001pho.2		NaN																	0					0						c.(10765-10767)TGG>TTG		dynein, cytoplasmic 2, heavy chain 1							81.0	83.0	82.0					11																	103152912		1798	4057	5855	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103152912G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10766G>T	11.37:g.103152912G>T	ENSP00000364887:p.Trp3589Leu					DYNC2H1_uc001phn.1_Missense_Mutation_p.W3596L|DYNC2H1_uc009yxe.1_Intron	p.W3589L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	72	10910	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3589					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.10766G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312483	0.81358	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.48201	0.82;0.82	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.87578	0.831;0.998	T	0.51387	-0.8712	10	0.16420	T	0.52	.	18.8911	0.92403	0.0:0.0:1.0:0.0	.	3589;3596	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	3589;3596	ENSP00000364887:W3589L;ENSP00000381167:W3596L	ENSP00000364887:W3589L	W	+	2	0	DYNC2H1	102658122	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.967000	0.76079	2.747000	0.94245	0.585000	0.79938	TGG		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		13	83	1	0	5.01169e-05	0.000566183	0.000771019	13	83		
PIH1D2	120379	broad.mit.edu	37	11	111941994	111941994	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:111941994G>A	ENST00000280350.4	-	4	537	c.315C>T	c.(313-315)gtC>gtT	p.V105V	PIH1D2_ENST00000532211.1_Silent_p.V105V|PIH1D2_ENST00000528775.1_Silent_p.V105V|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000431456.1_Silent_p.V105V|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000530641.1_Silent_p.V105V	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	105										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CAACATCAATGACTGTGTAAG	0.358																																						uc001pmq.3		NaN																	0				ovary(1)	1						c.(313-315)GTC>GTT		PIH1 domain containing 2 isoform 1							141.0	134.0	136.0					11																	111941994		2201	4297	6498	SO:0001819	synonymous_variant	120379							g.chr11:111941994G>A	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.315C>T	11.37:g.111941994G>A						PIH1D2_uc009yyl.2_Silent_p.V105V|PIH1D2_uc001pmp.3_Silent_p.V105V|PIH1D2_uc010rws.1_Silent_p.V105V|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	p.V105V	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	4	397	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	105					B4DU48|E9PD82	Silent	SNP	ENST00000280350.4	37	c.315C>T	CCDS8355.1																																																																																				0.358	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1		NM_138789		34	149	0	0	0	0.000191422	0	34	149		
SCN4B	6330	broad.mit.edu	37	11	118023348	118023348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:118023348C>T	ENST00000324727.4	-	1	187	c.41G>A	c.(40-42)tGg>tAg	p.W14*	SCN4B_ENST00000529878.1_Nonsense_Mutation_p.W14*	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	14					AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTGCCCAGCCATCTCGCCGG	0.662																																						uc001pse.2		NaN																	0				skin(1)	1						c.(40-42)TGG>TAG		sodium channel, voltage-gated, type IV, beta							23.0	27.0	26.0					11																	118023348		2200	4296	6496	SO:0001587	stop_gained	6330					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118023348C>T	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.41G>A	11.37:g.118023348C>T	ENSP00000322460:p.Trp14*					SCN4B_uc010rxv.1_Nonsense_Mutation_p.W14*	p.W14*	NM_174934	NP_777594	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	1	283	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	14					E9PPT5|Q6PIG5	Nonsense_Mutation	SNP	ENST00000324727.4	37	c.41G>A	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	C	38	6.751567	0.97813	.	.	ENSG00000177098	ENST00000324727;ENST00000529878	.	.	.	4.01	4.01	0.46588	.	0.601908	0.15695	N	0.249218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	11.8131	0.52194	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000322460:W14X	W	-	2	0	SCN4B	117528558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.286000	0.43496	2.218000	0.71995	0.561000	0.74099	TGG		0.662	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1				8	19	0	0	0	3.86212e-05	0	8	19		
PRDM10	56980	broad.mit.edu	37	11	129817136	129817136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:129817136C>T	ENST00000360871.3	-	5	655	c.424G>A	c.(424-426)Gag>Aag	p.E142K	PRDM10_ENST00000304538.6_Missense_Mutation_p.E56K|PRDM10_ENST00000423662.2_Missense_Mutation_p.E56K|PRDM10_ENST00000528746.1_Missense_Mutation_p.E116K|PRDM10_ENST00000358825.5_Missense_Mutation_p.E142K|PRDM10_ENST00000526082.1_Missense_Mutation_p.E56K	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCAGTGTCCTCGTCCTCATCC	0.582																																						uc001qfm.2		NaN																	0				pancreas(1)	1						c.(424-426)GAG>AAG		PR domain containing 10 isoform 1							312.0	166.0	215.0					11																	129817136		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129817136C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.424G>A	11.37:g.129817136C>T	ENSP00000354118:p.Glu142Lys					PRDM10_uc001qfj.2_Missense_Mutation_p.E56K|PRDM10_uc001qfk.2_Missense_Mutation_p.E56K|PRDM10_uc001qfl.2_Missense_Mutation_p.E56K|PRDM10_uc010sbx.1_Missense_Mutation_p.E56K|PRDM10_uc001qfn.2_Missense_Mutation_p.E142K|PRDM10_uc009zct.1_Missense_Mutation_p.E174K	p.E142K	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	5	656	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	142					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.424G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337508	0.24253	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000527581	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.98	4.98	0.66077	.	0.320937	0.31156	N	0.008157	T	0.24122	0.0584	N	0.08118	0	0.35508	D	0.800373	P;P;P;B;P;P;P	0.50710	0.824;0.938;0.89;0.102;0.89;0.89;0.89	B;B;B;B;B;B;B	0.36567	0.055;0.228;0.117;0.007;0.117;0.117;0.117	T	0.43845	-0.9366	10	0.66056	D	0.02	-35.3524	17.4071	0.87476	0.0:1.0:0.0:0.0	.	56;142;142;142;56;56;56	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	K	142;56;142;56;116;56;122	ENSP00000351686:E142K;ENSP00000302669:E56K;ENSP00000354118:E142K;ENSP00000398431:E56K;ENSP00000431262:E116K;ENSP00000432237:E56K;ENSP00000432093:E122K	ENSP00000302669:E56K	E	-	1	0	PRDM10	129322346	0.996000	0.38824	0.941000	0.38009	0.738000	0.42128	4.576000	0.60915	2.470000	0.83445	0.650000	0.86243	GAG		0.582	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1		NM_199437		37	38	0	0	0	0.000228196	0	37	38		
NOP2	4839	broad.mit.edu	37	12	6670928	6670928	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6670928C>T	ENST00000322166.5	-	11	1230	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	NOP2_ENST00000399466.2_Missense_Mutation_p.G366E|NOP2_ENST00000382421.3_Missense_Mutation_p.G403E|NOP2_ENST00000541778.1_Missense_Mutation_p.G366E|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.G370E|NOP2_ENST00000545200.1_Missense_Mutation_p.G366E	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	370					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTGGAGGCTCCCTGCAGCAT	0.607																																						uc001qph.1		NaN																	0				ovary(2)	2						c.(1096-1098)GGA>GAA		nucleolar protein 1, 120kDa							40.0	45.0	43.0					12																	6670928		2027	4176	6203	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6670928C>T		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1109G>A	12.37:g.6670928C>T	ENSP00000313272:p.Gly370Glu					NOP2_uc009zeq.1_Missense_Mutation_p.G82E|NOP2_uc001qpi.1_Missense_Mutation_p.G366E|NOP2_uc001qpj.1_Intron	p.G366E	NM_001033714	NP_001028886	P46087	NOP2_HUMAN			11	1277	-			370					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.1097G>A	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209111	0.95069	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	N	0.20530	0.585	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.917	T	0.26643	-1.0097	10	0.87932	D	0	-17.1739	19.2531	0.93933	0.0:1.0:0.0:0.0	.	366;366	Q05BA7;P46087-2	.;.	E	370;403;366;366;370;366;246	ENSP00000444437:G370E;ENSP00000371858:G403E;ENSP00000439422:G366E;ENSP00000382392:G366E;ENSP00000313272:G370E;ENSP00000443150:G366E;ENSP00000440754:G246E	ENSP00000313272:G370E	G	-	2	0	NOP2	6541189	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.788000	0.85771	2.536000	0.85505	0.561000	0.74099	GGA		0.607	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1		NM_006170		9	9	0	0	0	0.000274275	0	9	9		
CHD4	1108	broad.mit.edu	37	12	6692229	6692229	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6692229C>G	ENST00000357008.2	-	27	4274	c.4111G>C	c.(4111-4113)Gag>Cag	p.E1371Q	CHD4_ENST00000540960.1_5'UTR|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.E1364Q|CHD4_ENST00000309577.6_Missense_Mutation_p.E1399Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1396Q|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1371					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCACCTTCCTCTGAAGCCACT	0.498																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(4111-4113)GAG>CAG		chromodomain helicase DNA binding protein 4							100.0	99.0	99.0					12																	6692229		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692229C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4111G>C	12.37:g.6692229C>G	ENSP00000349508:p.Glu1371Gln					CHD4_uc001qpn.2_Missense_Mutation_p.E1364Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1396Q|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	p.E1371Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN			27	4275	-			1371					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4111G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610428	0.66558	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92149	-2.98;-2.78;-2.98;-2.78	5.83	5.83	0.93111	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.994	D	0.95072	0.8205	10	0.59425	D	0.04	-13.1312	20.1374	0.98035	0.0:1.0:0.0:0.0	.	1399;1371;1364	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1396;1364;1399;1371;1345	ENSP00000440392:E1396Q;ENSP00000440542:E1364Q;ENSP00000312419:E1399Q;ENSP00000349508:E1371Q	ENSP00000312419:E1399Q	E	-	1	0	CHD4	6562490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.763000	0.94921	0.563000	0.77884	GAG		0.498	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		22	76	0	0	0	0.000229342	0	22	76		
CHD4	1108	broad.mit.edu	37	12	6692529	6692529	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6692529C>G	ENST00000357008.2	-	26	4058	c.3895G>C	c.(3895-3897)Gaa>Caa	p.E1299Q	CHD4_ENST00000540960.1_5'UTR|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.E1292Q|CHD4_ENST00000309577.6_Missense_Mutation_p.E1299Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1296Q|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1299	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATTTCCCGTTCTACCTCCTCT	0.532																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(3895-3897)GAA>CAA		chromodomain helicase DNA binding protein 4							166.0	160.0	162.0					12																	6692529		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692529C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3895G>C	12.37:g.6692529C>G	ENSP00000349508:p.Glu1299Gln					CHD4_uc001qpn.2_Missense_Mutation_p.E1292Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1296Q|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	p.E1299Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN			26	4059	-			1299			Poly-Glu.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3895G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327758	0.60743	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90955	-2.73;-2.76;-2.73;-2.76	5.96	5.96	0.96718	Domain of unknown function DUF1087 (1);	0.120506	0.56097	D	0.000027	D	0.89291	0.6673	L	0.46157	1.445	0.80722	D	1	B;B;P	0.45827	0.073;0.014;0.867	B;B;B	0.42282	0.028;0.062;0.382	D	0.88189	0.2876	10	0.39692	T	0.17	-7.8264	20.422	0.99049	0.0:1.0:0.0:0.0	.	1299;1299;1292	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1296;1292;1299;1299;1273	ENSP00000440392:E1296Q;ENSP00000440542:E1292Q;ENSP00000312419:E1299Q;ENSP00000349508:E1299Q	ENSP00000312419:E1299Q	E	-	1	0	CHD4	6562790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.828000	0.62730	2.832000	0.97577	0.655000	0.94253	GAA		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		40	166	0	0	0	0.000374591	0	40	166		
DENND5B	160518	broad.mit.edu	37	12	31604993	31604993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:31604993C>T	ENST00000389082.5	-	5	1774	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	DENND5B_ENST00000306833.6_Missense_Mutation_p.E539K|DENND5B_ENST00000354285.4_Missense_Mutation_p.E526K|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000536562.1_Missense_Mutation_p.E539K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	504	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCAAAGACCTCTCGGAGCTGT	0.463																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1510-1512)GAG>AAG		DENN/MADD domain containing 5B							153.0	152.0	152.0					12																	31604993		1938	4151	6089	SO:0001583	missense	160518					integral to membrane		g.chr12:31604993C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1510G>A	12.37:g.31604993C>T	ENSP00000373734:p.Glu504Lys					DENND5B_uc001rkh.1_Missense_Mutation_p.E539K|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.E526K|DENND5B_uc001rkk.1_Missense_Mutation_p.E426K	p.E504K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			5	1696	-			504			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1510G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012281	0.93346	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.67	4.67	0.58626	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.992;0.994	T	0.66878	-0.5812	10	0.49607	T	0.09	-10.947	17.7861	0.88538	0.0:1.0:0.0:0.0	.	426;526;504;539	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	K	504;539;539;526;456	ENSP00000373734:E504K;ENSP00000306482:E539K;ENSP00000444889:E539K;ENSP00000346238:E526K;ENSP00000442938:E456K	ENSP00000306482:E539K	E	-	1	0	DENND5B	31496260	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.452000	0.80683	2.421000	0.82119	0.563000	0.77884	GAG		0.463	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		40	136	0	0	0	0.000437636	0	40	136		
RPAP3	79657	broad.mit.edu	37	12	48061621	48061621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:48061621G>C	ENST00000005386.3	-	15	1842	c.1727C>G	c.(1726-1728)tCt>tGt	p.S576C	RPAP3_ENST00000432584.3_Missense_Mutation_p.S417C|RPAP3_ENST00000548211.1_5'Flank|RPAP3_ENST00000380650.4_Missense_Mutation_p.S542C	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	576										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGGATACAAAGATGGTTCAAT	0.294																																						uc001rpr.2		NaN																	0				ovary(1)	1						c.(1726-1728)TCT>TGT		RNA polymerase II associated protein 3 isoform							39.0	37.0	38.0					12																	48061621		2199	4294	6493	SO:0001583	missense	79657						binding	g.chr12:48061621G>C	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1727C>G	12.37:g.48061621G>C	ENSP00000005386:p.Ser576Cys					RPAP3_uc010slk.1_Missense_Mutation_p.S417C|RPAP3_uc001rps.2_Missense_Mutation_p.S542C	p.S576C	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN			15	1843	-	Lung SC(27;0.192)		576					B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	c.1727C>G	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953539	0.73902	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.56611	0.45;0.45;0.45	5.73	5.73	0.89815	.	0.326503	0.34828	N	0.003654	T	0.67906	0.2943	L	0.54323	1.7	0.49299	D	0.999771	D;D	0.76494	0.999;0.999	P;P	0.62813	0.849;0.907	T	0.67921	-0.5545	10	0.66056	D	0.02	.	18.8559	0.92252	0.0:0.0:1.0:0.0	.	542;576	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	C	576;417;542	ENSP00000005386:S576C;ENSP00000401823:S417C;ENSP00000370024:S542C	ENSP00000005386:S576C	S	-	2	0	RPAP3	46347888	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.418000	0.52721	2.868000	0.98415	0.557000	0.71058	TCT		0.294	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1		NM_024604		9	40	0	0	0	0.000442599	0	9	40		
KMT2D	8085	broad.mit.edu	37	12	49420060	49420060	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:49420060C>A	ENST00000301067.7	-	48	15688	c.15689G>T	c.(15688-15690)tGt>tTt	p.C5230F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5230	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCAATAGAACAGCGATAGCA	0.582																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15688-15690)TGT>TTT		myeloid/lymphoid or mixed-lineage leukemia 2							64.0	67.0	66.0					12																	49420060		1994	4167	6161	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420060C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15689G>T	12.37:g.49420060C>A	ENSP00000301067:p.Cys5230Phe	HNSCC(34;0.089)					p.C5230F	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15689	-			5230			FYR N-terminal.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15689G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392194	0.42410	.	.	ENSG00000167548	ENST00000301067	D	0.82433	-1.61	5.11	5.11	0.69529	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.39759	N	0.001266	D	0.93022	0.7779	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94386	0.7609	10	0.87932	D	0	.	17.6991	0.88289	0.0:1.0:0.0:0.0	.	5230	O14686	MLL2_HUMAN	F	5230	ENSP00000301067:C5230F	ENSP00000301067:C5230F	C	-	2	0	MLL2	47706327	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.560000	0.86352	0.650000	0.86243	TGT		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				33	47	1	0	5.8336e-16	0.00058488	9.56053e-15	33	47		
DIP2B	57609	broad.mit.edu	37	12	51074507	51074508	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:51074507_51074508GG>TT	ENST00000301180.5	+	9	1201_1202	c.1167_1168GG>TT	c.(1165-1170)ctGGgg>ctTTgg	p.G390W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	390						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTAATAAACTGGGGACCAAAAA	0.342																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(1165-1170)CTGGGG>CTTTGG		DIP2 disco-interacting protein 2 homolog B																																				SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51074507_51074508GG>TT	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	Exception_encountered	12.37:g.51074507_51074508delinsTT	ENSP00000301180:p.Gly390Trp						p.G390W	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			9	1323_1324	+			390					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	DNP	ENST00000301180.5	37	c.1167_1168GG>TT	CCDS31799.1																																																																																				0.342	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		12	509	0	0	0	6.4e-05	0	12	509		
CSRNP2	81566	broad.mit.edu	37	12	51467662	51467662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:51467662G>A	ENST00000228515.1	-	3	652	c.355C>T	c.(355-357)Cga>Tga	p.R119*	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	119					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGAATCTCTCGATGGTTCACC	0.532																																						uc001rxu.1		NaN																	0					0						c.(355-357)CGA>TGA		TGF-beta induced apoptosis protein 12							103.0	96.0	99.0					12																	51467662		2203	4300	6503	SO:0001587	stop_gained	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467662G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.355C>T	12.37:g.51467662G>A	ENSP00000228515:p.Arg119*						p.R119*	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			3	653	-			119						Nonsense_Mutation	SNP	ENST00000228515.1	37	c.355C>T	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	37	6.467995	0.97590	.	.	ENSG00000110925	ENST00000228515;ENST00000548206	.	.	.	5.11	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6438	13.8556	0.63524	0.0:0.0:0.8408:0.1592	.	.	.	.	X	119;25	.	ENSP00000228515:R119X	R	-	1	2	CSRNP2	49753929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.669000	0.54561	1.464000	0.47987	0.655000	0.94253	CGA		0.532	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1				52	93	0	0	0	0.000147903	0	52	93		
KRT75	9119	broad.mit.edu	37	12	52822425	52822425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:52822425C>T	ENST00000252245.5	-	6	1358	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	380	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGTCAATCTCAGCTCTCAGC	0.507																																						uc001saj.2		NaN																	0					0						c.(1138-1140)GAG>AAG		keratin 75							161.0	135.0	144.0					12																	52822425		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52822425C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1138G>A	12.37:g.52822425C>T	ENSP00000252245:p.Glu380Lys						p.E380K	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	6	1160	-			380			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1138G>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533375	0.96460	.	.	ENSG00000170454	ENST00000252245	T	0.78816	-1.21	5.09	5.09	0.68999	Prefoldin (1);Filament (1);	0.000000	0.51477	D	0.000087	D	0.91955	0.7452	H	0.95504	3.68	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94100	0.7361	10	0.72032	D	0.01	.	18.8613	0.92273	0.0:1.0:0.0:0.0	.	380	O95678	K2C75_HUMAN	K	380	ENSP00000252245:E380K	ENSP00000252245:E380K	E	-	1	0	KRT75	51108692	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.855000	0.62925	2.538000	0.85594	0.561000	0.74099	GAG		0.507	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1		NM_004693		11	54	0	0	0	0.00010058	0	11	54		
KRT71	112802	broad.mit.edu	37	12	52943818	52943818	+	Missense_Mutation	SNP	C	C	G	rs140770876		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:52943818C>G	ENST00000267119.5	-	2	720	c.651G>C	c.(649-651)aaG>aaC	p.K217N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	217	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCACCTCTTCTTGTAGTCCT	0.592																																						uc001sao.2		NaN																	0				ovary(1)|skin(1)	2						c.(649-651)AAG>AAC		keratin 71							148.0	135.0	140.0					12																	52943818		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52943818C>G	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.651G>C	12.37:g.52943818C>G	ENSP00000267119:p.Lys217Asn						p.K217N	NM_033448	NP_258259	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	2	721	-			217			Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.651G>C	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382445	0.42207	.	.	ENSG00000139648	ENST00000267119	D	0.90504	-2.68	5.61	4.72	0.59763	Filament (1);	0.000000	0.47455	D	0.000235	D	0.96281	0.8787	H	0.94847	3.59	0.35152	D	0.769893	D	0.89917	1.0	D	0.97110	1.0	D	0.99929	1.1304	10	0.87932	D	0	.	11.7489	0.51837	0.0:0.8586:0.0:0.1414	.	217	Q3SY84	K2C71_HUMAN	N	217	ENSP00000267119:K217N	ENSP00000267119:K217N	K	-	3	2	KRT71	51230085	0.969000	0.33509	1.000000	0.80357	0.176000	0.22953	1.013000	0.29937	1.525000	0.49052	0.561000	0.74099	AAG		0.592	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1		NM_033448		19	99	0	0	0	0.000175454	0	19	99		
HNRNPA1	3178	broad.mit.edu	37	12	54675662	54675662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:54675662G>A	ENST00000340913.6	+	3	269	c.216G>A	c.(214-216)atG>atA	p.M72I	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.M72I|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.M72I|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.M72I	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	72	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.M72I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATGCAGCTATGAATGCAAGGC	0.463																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NaN																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(214-216)ATG>ATA		heterogeneous nuclear ribonucleoprotein A1							54.0	54.0	54.0					12																	54675662		2094	4236	6330	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675662G>A	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.216G>A	12.37:g.54675662G>A	ENSP00000341826:p.Met72Ile					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zng.2_Missense_Mutation_p.M72I|HNRNPA1_uc009znh.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zni.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfn.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.M27I|HNRNPA1_uc009znj.1_Missense_Mutation_p.M27I	p.M72I	NM_031157	NP_112420	P09651	ROA1_HUMAN			3	320	+			72			Globular A domain.|RRM 1.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.216G>A	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354890	0.82243	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;3.24	3.77	3.77	0.43336	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	T	0.15955	0.0384	N	0.10945	0.07	0.58432	D	0.999998	P;P;P;P;B;B;P;D	0.58970	0.933;0.491;0.478;0.895;0.297;0.076;0.478;0.984	P;P;P;P;B;B;P;P	0.59171	0.853;0.475;0.475;0.629;0.356;0.103;0.475;0.845	T	0.15206	-1.0445	10	0.59425	D	0.04	.	13.9894	0.64357	0.0:0.0:1.0:0.0	.	50;72;72;72;72;72;72;72	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	I	72;72;72;72;72;72;72;72;72;91;27	ENSP00000448617:M72I;ENSP00000448229:M72I;ENSP00000341826:M72I;ENSP00000333504:M72I;ENSP00000447260:M72I;ENSP00000447782:M91I;ENSP00000448917:M27I	ENSP00000333504:M72I	M	+	3	0	HNRNPA1	52961929	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.688000	0.98670	2.084000	0.62774	0.306000	0.20318	ATG		0.463	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1		NM_031157		18	39	0	0	0	7.07596e-05	0	18	39		
ZBTB39	9880	broad.mit.edu	37	12	57397508	57397508	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:57397508G>A	ENST00000300101.2	-	2	1279	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGGAGAAAAGGAAAATACCAA	0.512																																						uc001sml.1		NaN																	0				breast(1)	1						c.(1192-1194)TTC>TTT		zinc finger and BTB domain containing 39							107.0	92.0	97.0					12																	57397508		2203	4300	6503	SO:0001819	synonymous_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397508G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1194C>T	12.37:g.57397508G>A						RDH16_uc010sqx.1_5'Flank	p.F398F	NM_014830	NP_055645	O15060	ZBT39_HUMAN			2	1280	-			398					A7MD38|Q9UD98	Silent	SNP	ENST00000300101.2	37	c.1194C>T	CCDS31839.1																																																																																				0.512	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1		NM_014830		35	44	0	0	0	0.000491102	0	35	44		
TBK1	29110	broad.mit.edu	37	12	64868152	64868152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:64868152G>A	ENST00000331710.5	+	6	1022	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|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 peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GAAGGGCCTCGTAGGAATAAA	0.383																																						uc001ssc.1		NaN																	0				central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5						c.(682-684)CGT>CAT		TANK-binding kinase 1							127.0	126.0	127.0					12																	64868152		2203	4300	6503	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64868152G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.683G>A	12.37:g.64868152G>A	ENSP00000329967:p.Arg228His						p.R228H	NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	6	745	+			228			Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.683G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884272	0.91814	.	.	ENSG00000183735	ENST00000331710	T	0.65549	-0.16	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80336	0.4604	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78237	-0.2282	9	.	.	.	-7.1244	20.3312	0.98718	0.0:0.0:1.0:0.0	.	228	Q9UHD2	TBK1_HUMAN	H	228	ENSP00000329967:R228H	.	R	+	2	0	TBK1	63154419	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	9.276000	0.95745	2.894000	0.99253	0.655000	0.94253	CGT		0.383	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1		NM_013254		35	142	0	0	0	0.000159656	0	35	142		
CHST11	50515	broad.mit.edu	37	12	105151419	105151419	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:105151419G>A	ENST00000303694.5	+	3	1336	c.897G>A	c.(895-897)ctG>ctA	p.L299L	CHST11_ENST00000549260.1_Silent_p.L294L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	299					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAGCTACCTGAAGTTCCCCA	0.512																																						uc001tkx.1		NaN																	0					0						c.(895-897)CTG>CTA		carbohydrate sulfotransferase 11							93.0	83.0	86.0					12																	105151419		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151419G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.897G>A	12.37:g.105151419G>A						CHST11_uc001tky.2_Silent_p.L294L|uc001tkz.2_5'Flank	p.L299L	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	1188	+			299			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.897G>A	CCDS9099.1																																																																																				0.512	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2		NM_018413		11	37	0	0	0	3.86212e-05	0	11	37		
BTBD11	121551	broad.mit.edu	37	12	108034099	108034099	+	Missense_Mutation	SNP	C	C	G	rs200303346		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:108034099C>G	ENST00000280758.5	+	13	3277	c.2749C>G	c.(2749-2751)Ctt>Gtt	p.L917V	BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000420571.2_Missense_Mutation_p.L798V|BTBD11_ENST00000357167.4_Missense_Mutation_p.L454V|BTBD11_ENST00000490090.2_Missense_Mutation_p.L917V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	917						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTCATTTTCTTAACAATAA	0.348																																						uc001tmk.1		NaN																	0				skin(2)|ovary(1)	3						c.(2749-2751)CTT>GTT		BTB (POZ) domain containing 11 isoform a							137.0	140.0	139.0					12																	108034099		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108034099C>G	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2749C>G	12.37:g.108034099C>G	ENSP00000280758:p.Leu917Val					BTBD11_uc001tmj.2_Missense_Mutation_p.L917V|BTBD11_uc001tml.1_Missense_Mutation_p.L454V|BTBD11_uc001tmm.1_5'UTR	p.L917V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			13	3270	+			917					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2749C>G	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335529	0.41398	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.22	5.22	0.72569	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.41356	1.27	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.91635	0.992;0.994;0.999	T	0.07195	-1.0785	10	0.02654	T	1	.	18.3896	0.90478	0.0:1.0:0.0:0.0	.	454;917;917	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	V	917;798;917;454	ENSP00000280758:L917V;ENSP00000413889:L798V;ENSP00000447319:L917V;ENSP00000349690:L454V	ENSP00000280758:L917V	L	+	1	0	BTBD11	106558229	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.351000	0.79395	2.427000	0.82271	0.555000	0.69702	CTT		0.348	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1		NM_152322		13	75	0	0	0	0.000151284	0	13	75		
NCOR2	9612	broad.mit.edu	37	12	124968284	124968284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:124968284G>C	ENST00000405201.1	-	3	269	c.269C>G	c.(268-270)tCa>tGa	p.S90*	NCOR2_ENST00000397355.1_Nonsense_Mutation_p.S90*|NCOR2_ENST00000356219.3_Nonsense_Mutation_p.S90*|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.S90*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.S90*			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	90					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCAGGTATGAGTGGGACTC	0.632																																						uc010tba.1		NaN																	0				skin(3)|ovary(1)	4						c.(268-270)TCA>TGA		nuclear receptor co-repressor 2 isoform 2							35.0	44.0	41.0					12																	124968284		2080	4222	6302	SO:0001587	stop_gained	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124968284G>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.269C>G	12.37:g.124968284G>C	ENSP00000384018:p.Ser90*					NCOR2_uc010tay.1_Nonsense_Mutation_p.S90*|NCOR2_uc010taz.1_Nonsense_Mutation_p.S90*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.S90*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.S90*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.S90*|NCOR2_uc001ugk.1_Nonsense_Mutation_p.S90*|uc001ugl.2_RNA	p.S90*	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	3	386	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		90					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Nonsense_Mutation	SNP	ENST00000405201.1	37	c.269C>G	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.779903|5.779903	0.96929|0.96929	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000542927|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	.|.	.|.	.|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.486273	.|0.20192	.|U	.|0.097286	T|.	0.75953|.	0.3920|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77294|.	-0.2641|.	4|.	.|0.51188	.|T	.|0.08	-8.0798|-8.0798	18.1298|18.1298	0.89598|0.89598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	13|90;90;90;90;90;90;90;90;11	.|.	.|ENSP00000348551:S90X	H|S	-|-	1|2	0|0	NCOR2|NCOR2	123534237|123534237	0.998000|0.998000	0.40836|0.40836	0.014000|0.014000	0.15608|0.15608	0.054000|0.054000	0.15201|0.15201	5.973000|5.973000	0.70456|0.70456	2.289000|2.289000	0.77006|0.77006	0.455000|0.455000	0.32223|0.32223	CAT|TCA		0.632	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		2	6	0	0	0	6.4e-05	0	2	6		
POLR1D	51082	broad.mit.edu	37	13	28239829	28239829	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:28239829G>A	ENST00000399697.3	+	3	226	c.108G>A	c.(106-108)aaG>aaA	p.K36K	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CCAGGATGAAGTGTCCTCTTG	0.403																																						uc001urp.2		NaN																	0					0						c.(106-108)AAG>AAA		polymerase (RNA) I polypeptide D isoform 2							86.0	77.0	80.0					13																	28239829		2203	4300	6503	SO:0001819	synonymous_variant	51082				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr13:28239829G>A	AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000399697.3:c.108G>A	13.37:g.28239829G>A						POLR1D_uc010aam.2_Silent_p.K8K|POLR1D_uc001urq.2_RNA	p.K36K	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)	3	226	+		Lung SC(185;0.0161)	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					Q5TBX2|Q96BR3	Silent	SNP	ENST00000399697.3	37	c.108G>A	CCDS9324.1																																																																																				0.403	POLR1D-004	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044306.1		NM_015972, NM_152705		15	37	0	0	0	0.000422831	0	15	37		
USPL1	10208	broad.mit.edu	37	13	31231851	31231851	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:31231851C>T	ENST00000255304.4	+	9	1979	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	546					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAAACAGCCTCAGTAACTCAC	0.433																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NaN																	0				pancreas(2)|skin(1)	3						c.(1636-1638)TCA>TTA		ubiquitin specific peptidase like 1							121.0	118.0	119.0					13																	31231851		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31231851C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1637C>T	13.37:g.31231851C>T	ENSP00000255304:p.Ser546Leu					USPL1_uc001utd.2_Missense_Mutation_p.S217L|USPL1_uc001ute.1_Missense_Mutation_p.S217L	p.S546L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2069	+		Lung SC(185;0.0257)|Breast(139;0.203)	546					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.1637C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523764	0.44866	.	.	ENSG00000132952	ENST00000255304	T	0.08634	3.07	5.79	4.07	0.47477	.	0.994787	0.08161	N	0.988544	T	0.11110	0.0271	L	0.46157	1.445	0.09310	N	1	B	0.20671	0.047	B	0.20955	0.032	T	0.30880	-0.9963	10	0.66056	D	0.02	-0.2893	10.8488	0.46759	0.0:0.855:0.0:0.145	.	546	Q5W0Q7	USPL1_HUMAN	L	546	ENSP00000255304:S546L	ENSP00000255304:S546L	S	+	2	0	USPL1	30129851	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.412000	0.21131	0.814000	0.34374	0.655000	0.94253	TCA		0.433	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1		NM_005800		35	118	0	0	0	0.00058488	0	35	118		
POSTN	10631	broad.mit.edu	37	13	38158988	38158988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:38158988C>G	ENST00000379747.4	-	8	1090	c.973G>C	c.(973-975)Gaa>Caa	p.E325Q	POSTN_ENST00000541481.1_Missense_Mutation_p.E325Q|POSTN_ENST00000379749.4_Missense_Mutation_p.E325Q|POSTN_ENST00000379742.4_Missense_Mutation_p.E325Q|POSTN_ENST00000379743.4_Missense_Mutation_p.E325Q|POSTN_ENST00000541179.1_Missense_Mutation_p.E325Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	325	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTATTTCCTTCCAGCGTCTCA	0.378																																						uc001uwo.3		NaN																	0				ovary(2)	2						c.(973-975)GAA>CAA		periostin, osteoblast specific factor isoform 1							198.0	174.0	182.0					13																	38158988		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38158988C>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.973G>C	13.37:g.38158988C>G	ENSP00000369071:p.Glu325Gln					POSTN_uc001uwp.3_Missense_Mutation_p.E325Q|POSTN_uc001uwr.2_Missense_Mutation_p.E325Q|POSTN_uc001uwq.2_Missense_Mutation_p.E325Q|POSTN_uc010teu.1_Missense_Mutation_p.E325Q|POSTN_uc010tev.1_Missense_Mutation_p.E325Q|POSTN_uc010tew.1_Missense_Mutation_p.E325Q|POSTN_uc010tex.1_Missense_Mutation_p.E240Q	p.E325Q	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	8	1091	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	325			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.973G>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026669	0.75390	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.41	5.41	0.78517	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.92251	0.7542	L	0.33189	0.99	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.998;0.966;1.0	D;D;D;D;D;P;D	0.97110	0.998;0.997;1.0;0.997;0.993;0.833;1.0	D	0.89174	0.3539	10	0.15952	T	0.53	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	325;325;325;325;325;325;325	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	Q	325;325;325;325;325;325;242	ENSP00000437959:E325Q;ENSP00000369073:E325Q;ENSP00000369071:E325Q;ENSP00000369067:E325Q;ENSP00000369066:E325Q;ENSP00000437953:E325Q	ENSP00000369066:E325Q	E	-	1	0	POSTN	37056988	1.000000	0.71417	0.957000	0.39632	0.645000	0.38454	7.458000	0.80787	2.524000	0.85096	0.655000	0.94253	GAA		0.378	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2		NM_006475		12	76	0	0	0	0.000151284	0	12	76		
DGKH	160851	broad.mit.edu	37	13	42742882	42742882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:42742882C>T	ENST00000337343.4	+	11	1316	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	DGKH_ENST00000538674.1_Missense_Mutation_p.S187L|DGKH_ENST00000379274.2_Missense_Mutation_p.S296L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.S296L|DGKH_ENST00000540693.1_Missense_Mutation_p.S432L|DGKH_ENST00000261491.5_Missense_Mutation_p.S432L	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	432	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGGGAGGTTCATATGACGAT	0.468																																						uc001uyl.1		NaN																	0				ovary(2)	2						c.(1294-1296)TCA>TTA		diacylglycerol kinase, eta isoform 2							160.0	161.0	160.0					13																	42742882		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42742882C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1295C>T	13.37:g.42742882C>T	ENSP00000337572:p.Ser432Leu					DGKH_uc010tfh.1_Missense_Mutation_p.S432L|DGKH_uc001uym.1_Missense_Mutation_p.S432L|DGKH_uc010tfi.1_Missense_Mutation_p.S187L|DGKH_uc010tfj.1_Missense_Mutation_p.S287L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.S287L|DGKH_uc001uyp.2_RNA	p.S432L	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	11	1316	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	432			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1295C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569266	0.28003	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.64	4.78	0.61160	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.68593	2.085	0.25126	N	0.990602	B;B;D;B	0.69078	0.034;0.009;0.997;0.05	B;B;D;B	0.79784	0.018;0.009;0.993;0.085	T	0.31586	-0.9938	10	0.39692	T	0.17	.	14.9608	0.71156	0.0:0.9301:0.0:0.0699	.	187;296;432;432	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	L	432;432;432;296;296;187	ENSP00000440823:S432L;ENSP00000337572:S432L;ENSP00000261491:S432L;ENSP00000368576:S296L;ENSP00000445114:S296L;ENSP00000441308:S187L	ENSP00000261491:S432L	S	+	2	0	DGKH	41640882	1.000000	0.71417	0.089000	0.20774	0.892000	0.51952	5.968000	0.70413	2.656000	0.90262	0.557000	0.71058	TCA		0.468	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2		NM_178009		30	116	0	0	0	0.000339439	0	30	116		
PCDH9	5101	broad.mit.edu	37	13	67799716	67799716	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:67799716C>T	ENST00000377865.2	-	1	2991	c.2857G>A	c.(2857-2859)Gac>Aac	p.D953N	PCDH9_ENST00000456367.1_Missense_Mutation_p.D953N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D953N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D953N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D953N			Q9HC56	PCDH9_HUMAN	protocadherin 9	953					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACTGGAGTGTCTGGTTTGAGA	0.512																																						uc001vik.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(2857-2859)GAC>AAC		protocadherin 9 isoform 1 precursor							145.0	145.0	145.0					13																	67799716		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799716C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2857G>A	13.37:g.67799716C>T	ENSP00000367096:p.Asp953Asn					PCDH9_uc001vil.2_Missense_Mutation_p.D953N|PCDH9_uc010thl.1_Missense_Mutation_p.D953N|PCDH9_uc001vin.3_Missense_Mutation_p.D953N	p.D953N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3549	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	953			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2857G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982172	0.74474	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.73	5.73	0.89815	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	N	0.14661	0.345	0.80722	D	1	D;P;D;D	0.56035	0.974;0.949;0.968;0.974	P;P;P;P	0.60886	0.842;0.696;0.755;0.88	T	0.17992	-1.0351	10	0.37606	T	0.19	.	19.9002	0.96983	0.0:1.0:0.0:0.0	.	953;953;953;953	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	953	ENSP00000442186:D953N;ENSP00000367096:D953N;ENSP00000401699:D953N;ENSP00000332060:D953N;ENSP00000367092:D953N	ENSP00000332060:D953N	D	-	1	0	PCDH9	66697717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.709000	0.92574	0.655000	0.94253	GAC		0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487		37	134	0	0	0	0.000270559	0	37	134		
COL4A1	1282	broad.mit.edu	37	13	110864269	110864270	+	Splice_Site	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:110864269_110864270CC>AA	ENST00000375820.4	-	7	509	c.388_388GG>TT	c.(388-390)GGgg>TTggg	p.G130L	COL4A1_ENST00000543140.1_Splice_Site_p.G130L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	130					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTCTCTCCCCCTGGGGAGACA	0.53																																						uc001vqw.3		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.e7-1		alpha 1 type IV collagen preproprotein																																				SO:0001630	splice_region_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110864269_110864270CC>AA	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.388_388delinsAA	13.37:g.110864269_110864270delinsAA						COL4A1_uc010agl.2_Splice_Site_p.G130_splice	p.G130_splice	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		7	510	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)						A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Splice_Site	DNP	ENST00000375820.4	37	c.388_splice	CCDS9511.1																																																																																				0.530	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			Missense_Mutation	10	200	0	0	0	6.4e-05	0	10	200		
SOX1	6656	broad.mit.edu	37	13	112722232	112722232	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:112722232C>A	ENST00000330949.1	+	1	320	c.260C>A	c.(259-261)gCc>gAc	p.A87D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	87					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CGCCTGGGGGCCGAGTGGAAG	0.642																																						uc001vsb.1		NaN																	0					0						c.(259-261)GCC>GAC		SRY (sex determining region Y)-box 1							42.0	46.0	45.0					13																	112722232		2203	4300	6503	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722232C>A		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.260C>A	13.37:g.112722232C>A	ENSP00000330218:p.Ala87Asp						p.A87D	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	320	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	87			HMG box.		Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.260C>A	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	c	24.0	4.477911	0.84747	.	.	ENSG00000182968	ENST00000330949	D	0.93659	-3.26	3.47	3.47	0.39725	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.95494	0.8536	L	0.61387	1.9	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.95795	0.8828	10	0.72032	D	0.01	.	13.8932	0.63753	0.0:1.0:0.0:0.0	.	87	O00570	SOX1_HUMAN	D	87	ENSP00000330218:A87D	ENSP00000330218:A87D	A	+	2	0	SOX1	111770233	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	6.460000	0.73518	1.791000	0.52520	0.450000	0.29827	GCC		0.642	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3		NM_005986		6	27	1	0	1.26484e-09	0.000157383	2.019e-08	6	27		
RPGRIP1	57096	broad.mit.edu	37	14	21780097	21780097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:21780097G>A	ENST00000400017.2	+	8	1045	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.D349N|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D322N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D322N	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	349					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCAACTGGAAGATGTGTCTAT	0.443																																						uc001wag.2		NaN																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(1045-1047)GAT>AAT		retinitis pigmentosa GTPase regulator							49.0	49.0	49.0					14																	21780097		1908	4127	6035	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21780097G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1045G>A	14.37:g.21780097G>A	ENSP00000382895:p.Asp349Asn						p.D349N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	8	1045	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	349			Potential.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1045G>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082841	0.76642	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.74209	-0.02;-0.78;-0.82;-0.82	5.64	5.64	0.86602	.	0.226336	0.46758	D	0.000279	T	0.81394	0.4813	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.76049	-0.3101	10	0.17832	T	0.49	-26.29	10.438	0.44448	0.0854:0.0:0.9146:0.0	.	349	Q96KN7	RPGR1_HUMAN	N	322;322;349;349	ENSP00000450445:D322N;ENSP00000451219:D322N;ENSP00000382895:D349N;ENSP00000206660:D349N	ENSP00000206660:D349N	D	+	1	0	RPGRIP1	20849937	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	3.333000	0.52090	2.937000	0.99478	0.650000	0.86243	GAT		0.443	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1		NM_020366		7	14	0	0	0	0.000157383	0	7	14		
MYH7	4625	broad.mit.edu	37	14	23884264	23884264	+	Silent	SNP	G	G	A	rs3729831		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:23884264G>A	ENST00000355349.3	-	37	5661	c.5499C>T	c.(5497-5499)aaC>aaT	p.N1833N	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1833					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGACTCTGCGTTGCGCTTCT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		19625	0.0		0.001	False		,,,				2504	0.0					uc001wjx.2		NaN																	0				ovary(3)|skin(1)	4						c.(5497-5499)AAC>AAT		myosin, heavy chain 7, cardiac muscle, beta		G		0,4406		0,0,2203	122.0	119.0	120.0		5499	-7.6	0.0	14	dbSNP_107	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYH7	NM_000257.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1833/1936	23884264	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884264G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5499C>T	14.37:g.23884264G>A							p.N1833N	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5605	-	all_cancers(95;2.54e-05)		1833			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.5499C>T	CCDS9601.1																																																																																				0.652	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		76	50	0	0	0	0.000147903	0	76	50		
ARHGAP5	394	broad.mit.edu	37	14	32562188	32562188	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:32562188G>A	ENST00000345122.3	+	2	2628	c.2313G>A	c.(2311-2313)aaG>aaA	p.K771K	ARHGAP5_ENST00000556611.1_Silent_p.K771K|ARHGAP5_ENST00000432921.1_Silent_p.K771K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.K771K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	771					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGCCAATAAGGACTTATCAG	0.398																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2311-2313)AAG>AAA		Rho GTPase activating protein 5 isoform b							132.0	124.0	126.0					14																	32562188		2203	4300	6503	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562188G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2313G>A	14.37:g.32562188G>A						ARHGAP5_uc001wrm.2_Silent_p.K771K|ARHGAP5_uc001wrn.2_Silent_p.K771K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.K771K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2552	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		771					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.2313G>A	CCDS32062.1																																																																																				0.398	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		18	71	0	0	0	0.000132079	0	18	71		
RALGAPA1	253959	broad.mit.edu	37	14	36147182	36147182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:36147182G>C	ENST00000389698.3	-	21	3470	c.3080C>G	c.(3079-3081)tCt>tGt	p.S1027C	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1040C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1027C|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S1074C	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1027					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGAAGAACAGAGTGGTGGAG	0.433																																						uc001wti.2		NaN																	0				ovary(3)|breast(1)	4						c.(3079-3081)TCT>TGT		Ral GTPase activating protein, alpha subunit 1							90.0	81.0	84.0					14																	36147182		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36147182G>C	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3080C>G	14.37:g.36147182G>C	ENSP00000374348:p.Ser1027Cys					RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1027C|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1040C|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1074C|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S925C	p.S1027C	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			21	3471	-			1027					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3080C>G	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450948	0.84209	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.38	5.38	0.77491	.	0.119200	0.64402	D	0.000018	T	0.80037	0.4550	L	0.43152	1.355	0.54753	D	0.999981	D;D;D;D;B	0.89917	0.998;0.997;1.0;0.996;0.004	D;P;D;P;B	0.71870	0.911;0.817;0.975;0.794;0.006	T	0.80495	-0.1357	10	0.54805	T	0.06	-8.0239	19.1166	0.93343	0.0:0.0:1.0:0.0	.	1074;1040;1074;1027;1027	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	C	1027;1027;1027;1074;1040;1074	ENSP00000374348:S1027C;ENSP00000302647:S1027C;ENSP00000258840:S1074C;ENSP00000371803:S1040C;ENSP00000451877:S1074C	ENSP00000258840:S1074C	S	-	2	0	RALGAPA1	35216933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.519000	0.84933	0.591000	0.81541	TCT		0.433	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022		15	37	0	0	0	7.07596e-05	0	15	37		
RALGAPA1	253959	broad.mit.edu	37	14	36219784	36219784	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:36219784G>A	ENST00000389698.3	-	9	1305	c.915C>T	c.(913-915)gtC>gtT	p.V305V	RALGAPA1_ENST00000258840.6_Silent_p.V305V|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Silent_p.V305V|RALGAPA1_ENST00000382366.3_Silent_p.V305V	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	305					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCAACGAATGACAATAACAC	0.418																																						uc001wti.2		NaN																	0				ovary(3)|breast(1)	4						c.(913-915)GTC>GTT		Ral GTPase activating protein, alpha subunit 1							58.0	54.0	55.0					14																	36219784		2202	4280	6482	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36219784G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.915C>T	14.37:g.36219784G>A						RALGAPA1_uc001wtj.2_Silent_p.V305V|RALGAPA1_uc010tpv.1_Silent_p.V305V|RALGAPA1_uc010tpw.1_Silent_p.V305V|RALGAPA1_uc001wtk.1_Silent_p.V156V	p.V305V	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			9	1306	-			305					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.915C>T	CCDS32065.1																																																																																				0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022		12	24	0	0	0	0.000219431	0	12	24		
RPL10L	140801	broad.mit.edu	37	14	47120421	47120421	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:47120421G>A	ENST00000298283.3	-	1	607	c.519C>T	c.(517-519)ttC>ttT	p.F173F		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	173					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TAAACTTCGTGAAGCCCCACT	0.512																																						uc001wwg.2		NaN																	0				ovary(1)	1						c.(517-519)TTC>TTT		ribosomal protein L10-like protein							100.0	99.0	99.0					14																	47120421		2203	4300	6503	SO:0001819	synonymous_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120421G>A	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.519C>T	14.37:g.47120421G>A							p.F173F	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	608	-			173					Q8IUD1	Silent	SNP	ENST00000298283.3	37	c.519C>T	CCDS32071.1																																																																																				0.512	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1				59	58	0	0	0	0.000147903	0	59	58		
TMEM260	54916	broad.mit.edu	37	14	57099827	57099827	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:57099827C>G	ENST00000261556.6	+	13	1784	c.1662C>G	c.(1660-1662)ttC>ttG	p.F554L	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.F88L|RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	554						integral component of membrane (GO:0016021)											AGATTGTATTCAACCCTGAGG	0.373																																						uc001xcm.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1660-1662)TTC>TTG		hypothetical protein LOC54916							76.0	81.0	79.0					14																	57099827		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57099827C>G	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1662C>G	14.37:g.57099827C>G	ENSP00000261556:p.Phe554Leu					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.F87L|C14orf101_uc001xco.2_Missense_Mutation_p.F87L	p.F554L	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	13	1784	+			554					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.1662C>G	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362719	0.82353	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.54279	1.43;0.58	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.59436	1.845	0.43771	D	0.996295	D	0.76494	0.999	D	0.80764	0.994	T	0.62167	-0.6911	10	0.33940	T	0.23	-1.1044	7.28	0.26306	0.0:0.7969:0.0:0.2031	.	554	Q9NX78	CN101_HUMAN	L	554;88	ENSP00000261556:F554L;ENSP00000438742:F88L	ENSP00000261556:F554L	F	+	3	2	C14orf101	56169580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.574000	0.46016	2.612000	0.88384	0.650000	0.86243	TTC		0.373	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1		NM_017799		42	24	0	0	0	0.000374591	0	42	24		
FMN1	342184	broad.mit.edu	37	15	33192256	33192257	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:33192256_33192257CC>AA	ENST00000559047.1	-	11	3576_3577	c.3577_3578GG>TT	c.(3577-3579)GGa>TTa	p.G1193L	FMN1_ENST00000561249.1_Missense_Mutation_p.G1095L|FMN1_ENST00000334528.9_Missense_Mutation_p.G970L			Q68DA7	FMN1_HUMAN	formin 1	1193	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTATTTCCTCCATTCATATAA	0.411																																						uc001zhf.3		NaN																	0				ovary(1)	1						c.(2908-2910)GGA>TTA		formin 1																																				SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33192256_33192257CC>AA	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3577_3578delinsAA	15.37:g.33192256_33192257delinsAA	ENSP00000454047:p.Gly1193Leu						p.G970L	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	10	2908_2909	-		all_lung(180;1.14e-07)	1193			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	DNP	ENST00000559047.1	37	c.2908_2909GG>TT																																																																																					0.411	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184		10	287	0	0	0	6.4e-05	0	10	287		
RTF1	23168	broad.mit.edu	37	15	41749923	41749923	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:41749923T>A	ENST00000389629.4	+	4	523	c.511T>A	c.(511-513)Tct>Act	p.S171T		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	171	Ser-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGATTCAGACTCTTCCTCAGA	0.478																																						uc001zny.2		NaN																	0				ovary(2)	2						c.(511-513)TCT>ACT		Paf1/RNA polymerase II complex component							206.0	181.0	189.0					15																	41749923		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41749923T>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.511T>A	15.37:g.41749923T>A	ENSP00000374280:p.Ser171Thr						p.S171T	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	523	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	171			Ser-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.511T>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803168	0.90623	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.64170	1.965	0.58432	D	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.56335	-0.7996	9	0.31617	T	0.26	-8.0282	15.9154	0.79512	0.0:0.0:0.0:1.0	.	171	Q92541	RTF1_HUMAN	T	171	.	ENSP00000374280:S171T	S	+	1	0	RTF1	39537215	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.442000	0.66575	2.178000	0.69098	0.533000	0.62120	TCT		0.478	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1		NM_015138		41	153	0	0	0	0.000319135	0	41	153		
CDAN1	146059	broad.mit.edu	37	15	43026452	43026452	+	Missense_Mutation	SNP	C	C	T	rs373881679		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:43026452C>T	ENST00000356231.3	-	7	1252	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	410					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		ATAGGCAGCTCGAAGGCGGCC	0.557																																						uc001zql.2		NaN																	0				ovary(2)	2						c.(1228-1230)CGA>CAA		codanin 1		C	GLN/ARG	0,4406		0,0,2203	75.0	72.0	73.0		1229	1.5	0.7	15		73	1,8597	1.2+/-3.3	0,1,4298	no	missense	CDAN1	NM_138477.2	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	410/1228	43026452	1,13003	2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43026452C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1229G>A	15.37:g.43026452C>T	ENSP00000348564:p.Arg410Gln					CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_Intron	p.R410Q	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	7	1346	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	410					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1229G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145143	0.21288	0.0	1.16E-4	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86432	-2.12	5.44	1.5	0.22942	.	0.908024	0.09466	N	0.798249	T	0.71829	0.3386	N	0.16478	0.41	0.09310	N	1	B	0.24132	0.098	B	0.12837	0.008	T	0.55405	-0.8146	10	0.12766	T	0.61	-0.1079	4.3523	0.11162	0.2304:0.4288:0.0:0.3407	.	410	Q8IWY9	CDAN1_HUMAN	Q	410;408	ENSP00000348564:R410Q	ENSP00000267892:R408Q	R	-	2	0	CDAN1	40813744	0.004000	0.15560	0.688000	0.30117	0.998000	0.95712	0.194000	0.17135	0.285000	0.22329	0.563000	0.77884	CGA		0.557	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300		20	57	0	0	0	0.000175454	0	20	57		
UBR1	197131	broad.mit.edu	37	15	43360220	43360220	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:43360220C>G	ENST00000290650.4	-	6	752	c.674G>C	c.(673-675)aGa>aCa	p.R225T	UBR1_ENST00000382177.2_Missense_Mutation_p.R225T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	225					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACAATAGTATCTTTCATTTTT	0.318																																						uc001zqq.2		NaN																	0				lung(1)	1						c.(673-675)AGA>ACA		ubiquitin protein ligase E3 component n-recognin							90.0	88.0	88.0					15																	43360220		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43360220C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.674G>C	15.37:g.43360220C>G	ENSP00000290650:p.Arg225Thr					UBR1_uc010udk.1_Missense_Mutation_p.R225T	p.R225T	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	6	740	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	225					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.674G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181394	0.06340	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.69926	0.39;-0.44	5.73	5.73	0.89815	Adaptor protein ClpS, core (1);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.378995	0.31577	N	0.007403	T	0.42245	0.1194	N	0.08118	0	0.29955	N	0.8199	B;B	0.12630	0.001;0.006	B;B	0.11329	0.005;0.006	T	0.31943	-0.9925	10	0.11182	T	0.66	-12.8997	10.3272	0.43801	0.0:0.8543:0.0:0.1457	.	225;225	B4DYL2;Q8IWV7	.;UBR1_HUMAN	T	225	ENSP00000290650:R225T;ENSP00000371612:R225T	ENSP00000290650:R225T	R	-	2	0	UBR1	41147512	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	0.824000	0.27379	2.688000	0.91661	0.650000	0.86243	AGA		0.318	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916		23	93	0	0	0	0.000184323	0	23	93		
DYX1C1	161582	broad.mit.edu	37	15	55790518	55790518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:55790518G>A	ENST00000321149.3	-	2	377	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	DYX1C1_ENST00000457155.2_Nonsense_Mutation_p.Q4*|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Nonsense_Mutation_p.Q4*|DYX1C1_ENST00000348518.3_Nonsense_Mutation_p.Q4*|DYX1C1_ENST00000448430.2_Nonsense_Mutation_p.Q4*	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	4	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TCGCTAACCTGAAGAGGCATT	0.592																																						uc002adc.2		NaN																	0				skin(1)	1						c.(10-12)CAG>TAG		dyslexia susceptibility 1 candidate 1 isoform a							43.0	39.0	41.0					15																	55790518		2193	4292	6485	SO:0001587	stop_gained	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55790518G>A		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.10C>T	15.37:g.55790518G>A	ENSP00000323275:p.Gln4*					CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Nonsense_Mutation_p.Q4*|DYX1C1_uc002add.2_Nonsense_Mutation_p.Q4*	p.Q4*	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	2	378	-			4			CS.		Q6P5Y9|Q8N1S6	Nonsense_Mutation	SNP	ENST00000321149.3	37	c.10C>T	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	38	6.744947	0.97805	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	.	.	.	4.92	3.97	0.46021	.	2.001670	0.02771	U	0.119712	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-12.2214	5.6259	0.17482	0.0903:0.0:0.5539:0.3558	.	.	.	.	X	4	.	ENSP00000323275:Q4X	Q	-	1	0	DYX1C1	53577810	0.401000	0.25303	0.065000	0.19835	0.576000	0.36127	1.442000	0.35046	1.222000	0.43521	0.655000	0.94253	CAG		0.592	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1		NM_130810		5	22	0	0	0	0.000602214	0	5	22		
DYX1C1	161582	broad.mit.edu	37	15	55790547	55790547	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:55790547G>C	ENST00000321149.3	-	0	348				DYX1C1_ENST00000457155.2_De_novo_Start_OutOfFrame|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_De_novo_Start_OutOfFrame|DYX1C1_ENST00000348518.3_De_novo_Start_OutOfFrame|DYX1C1_ENST00000448430.2_5'Flank	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1						cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AACGGGAGCGGATAGCGCGGC	0.632																																						uc002acy.2		NaN																	0				ovary(1)	1						c.(-1183--1179)ATCCG>ATGCG		cell cycle progression 1 isoform 2							35.0	32.0	33.0					15																	55790547		2193	4292	6485			9236				cell cycle	integral to membrane		g.chr15:55790547G>C		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.-20C>G	15.37:g.55790547G>C						DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Translation_Start_Site|DYX1C1_uc002adc.2_Translation_Start_Site|DYX1C1_uc002add.2_Translation_Start_Site		NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	1	236	-								Q6P5Y9|Q8N1S6	Translation_Start_Site	SNP	ENST00000321149.3	37	c.-1181C>G	CCDS10154.1																																																																																				0.632	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1		NM_130810		3	20	0	0	0	6.4e-05	0	3	20		
ADAM10	102	broad.mit.edu	37	15	58919991	58919991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:58919991G>A	ENST00000260408.3	-	10	1711	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	ADAM10_ENST00000396140.2_Missense_Mutation_p.S122F|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	423	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTTGTCCCCAGATGTTGCTCT	0.353																																						uc002afd.1		NaN																	0				skin(2)	2						c.(1267-1269)TCT>TTT		ADAM metallopeptidase domain 10 precursor							177.0	165.0	169.0					15																	58919991		2192	4291	6483	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58919991G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1268C>T	15.37:g.58919991G>A	ENSP00000260408:p.Ser423Phe					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S122F|ADAM10_uc002afe.1_Intron	p.S423F	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	10	1712	-			423			Peptidase M12B.|Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1268C>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636446	0.87760	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.38722	1.12;1.12	5.52	5.52	0.82312	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.68891	-0.5289	10	0.87932	D	0	-18.8581	19.434	0.94783	0.0:0.0:1.0:0.0	.	122;423	B4DU28;O14672	.;ADA10_HUMAN	F	423;242;122	ENSP00000260408:S423F;ENSP00000379444:S122F	ENSP00000260408:S423F	S	-	2	0	ADAM10	56707283	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.444000	0.97578	2.590000	0.87494	0.563000	0.77884	TCT		0.353	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2		NM_001110		22	66	0	0	0	0.000295444	0	22	66		
PIF1	80119	broad.mit.edu	37	15	65114716	65114716	+	Missense_Mutation	SNP	C	C	T	rs374923447		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:65114716C>T	ENST00000268043.4	-	3	746	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	PIF1_ENST00000559239.1_Missense_Mutation_p.V218I|PIF1_ENST00000333425.6_Missense_Mutation_p.V218I					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCTTTCAGGACGGCCCTCAGC	0.622																																						uc002ant.2		NaN																	0					0						c.(652-654)GTC>ATC		DNA helicase homolog PIF1		C	ILE/VAL	0,4404		0,0,2202	66.0	56.0	60.0		652	3.7	0.3	15		60	1,8597	1.2+/-3.3	0,1,4298	no	missense	PIF1	NM_025049.2	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	218/642	65114716	1,13001	2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65114716C>T	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.652G>A	15.37:g.65114716C>T	ENSP00000268043:p.Val218Ile					PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.V218I|PIF1_uc002anu.2_Missense_Mutation_p.V218I	p.V218I	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			3	718	-			218			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.652G>A	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074855	0.76415	0.0	1.16E-4	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.72615	-0.67;-0.67	5.52	3.66	0.41972	.	0.057236	0.64402	N	0.000002	T	0.72819	0.3508	L	0.33710	1.025	0.58432	D	0.999993	P;D	0.89917	0.873;1.0	B;D	0.83275	0.143;0.996	T	0.66822	-0.5826	10	0.22706	T	0.39	-24.9315	10.0986	0.42491	0.0:0.8367:0.0:0.1633	.	218;218	Q9H611-2;Q9H611	.;PIF1_HUMAN	I	218	ENSP00000268043:V218I;ENSP00000328174:V218I	ENSP00000268043:V218I	V	-	1	0	PIF1	62901769	0.999000	0.42202	0.338000	0.25549	0.970000	0.65996	4.202000	0.58446	0.699000	0.31761	-0.140000	0.14226	GTC		0.622	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1		NM_025049		11	30	0	0	0	0.00010058	0	11	30		
LCTL	197021	broad.mit.edu	37	15	66845521	66845521	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:66845521T>G	ENST00000341509.5	-	9	1129	c.998A>C	c.(997-999)aAa>aCa	p.K333T	LCTL_ENST00000537670.1_Missense_Mutation_p.K160T	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	333					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGATGTGCCTTTAATGTAGCT	0.488																																						uc002aqc.2		NaN																	0				ovary(2)	2						c.(997-999)AAA>ACA		lactase-like precursor							180.0	177.0	178.0					15																	66845521		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66845521T>G	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.998A>C	15.37:g.66845521T>G	ENSP00000343490:p.Lys333Thr					LCTL_uc002aqd.3_Missense_Mutation_p.K160T|LCTL_uc010bhw.2_Missense_Mutation_p.K31T	p.K333T	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			9	1130	-			333			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.998A>C	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304239	0.81136	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.35236	1.32;1.32	5.63	1.76	0.24704	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.087204	0.85682	D	0.000000	T	0.53286	0.1787	M	0.82323	2.585	0.49130	D	0.999751	P;D	0.60160	0.918;0.987	P;P	0.59357	0.762;0.856	T	0.52563	-0.8559	10	0.62326	D	0.03	-21.3744	8.2969	0.31990	0.0:0.2645:0.0:0.7355	.	160;333	B3KQY0;Q6UWM7	.;LCTL_HUMAN	T	160;333	ENSP00000445419:K160T;ENSP00000343490:K333T	ENSP00000343490:K333T	K	-	2	0	LCTL	64632575	0.995000	0.38212	0.108000	0.21378	0.954000	0.61252	1.849000	0.39318	0.089000	0.17243	0.533000	0.62120	AAA		0.488	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2		NM_207338		51	200	0	0	0	0.000147903	0	51	200		
LINGO1	84894	broad.mit.edu	37	15	77907318	77907318	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:77907318G>T	ENST00000355300.6	-	2	1105	c.931C>A	c.(931-933)Ctc>Atc	p.L311I	LINGO1_ENST00000561030.1_Missense_Mutation_p.L305I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	311					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCAGCCGGAGCAGCTCATGC	0.627																																						uc002bct.1		NaN																	0				ovary(1)|lung(1)	2						c.(931-933)CTC>ATC		leucine-rich repeat neuronal 6A							53.0	54.0	53.0					15																	77907318		2168	4270	6438	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907318G>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.931C>A	15.37:g.77907318G>T	ENSP00000347451:p.Leu311Ile					LINGO1_uc002bcu.1_Missense_Mutation_p.L305I	p.L311I	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	983	-			311			Extracellular (Potential).		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.931C>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	4.792	0.147321	0.09134	.	.	ENSG00000169783	ENST00000355300	T	0.79845	-1.31	5.34	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	N	0.25286	0.73	0.58432	D	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.63065	-0.6720	10	0.33141	T	0.24	.	14.2848	0.66240	0.0729:0.0:0.9271:0.0	.	311	Q96FE5	LIGO1_HUMAN	I	311	ENSP00000347451:L311I	ENSP00000347451:L311I	L	-	1	0	LINGO1	75694373	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.606000	0.67641	1.238000	0.43771	0.462000	0.41574	CTC		0.627	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1		NM_032808		15	69	1	0	0.000219431	0.000219431	0.00335712	15	69		
TICRR	90381	broad.mit.edu	37	15	90169198	90169198	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:90169198G>C	ENST00000268138.7	+	21	5613	c.5508G>C	c.(5506-5508)cgG>cgC	p.R1836R	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.R1835R			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1836					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTGCCGTGCGGAGCTGCCTCT	0.617																																						uc002boe.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5506-5508)CGG>CGC		leucine-rich repeat kinase 1							46.0	49.0	48.0					15																	90169198		2200	4299	6499	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90169198G>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5508G>C	15.37:g.90169198G>C						C15orf42_uc010upv.1_RNA	p.R1836R	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		21	5508	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1836					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.5508G>C	CCDS10352.2																																																																																				0.617	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259		16	32	0	0	0	0.000422831	0	16	32		
MLST8	64223	broad.mit.edu	37	16	2256193	2256193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:2256193G>A	ENST00000569417.1	+	2	461	c.107G>A	c.(106-108)cGg>cAg	p.R36Q	MLST8_ENST00000301724.10_Missense_Mutation_p.R36Q|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Missense_Mutation_p.R55Q|MLST8_ENST00000564088.1_Missense_Mutation_p.R36Q|MLST8_ENST00000382450.4_Missense_Mutation_p.R36Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.R36Q|MLST8_ENST00000397124.1_Missense_Mutation_p.R36Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	36					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						ATCTGCACCCGGACGGTGCAG	0.701																																						uc002coz.2		NaN																	0					0						c.(106-108)CGG>CAG		G protein beta subunit-like							33.0	37.0	36.0					16																	2256193		2028	4177	6205	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256193G>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.107G>A	16.37:g.2256193G>A	ENSP00000456405:p.Arg36Gln					MLST8_uc002coy.2_Missense_Mutation_p.R36Q|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.R36Q|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Missense_Mutation_p.R36Q|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Missense_Mutation_p.R36Q|MLST8_uc010uvy.1_Missense_Mutation_p.R36Q|MLST8_uc002cpg.2_Missense_Mutation_p.R55Q|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.R36Q	p.R36Q	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			2	226	+			36			WD 1.		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.107G>A	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	G	36	5.762526	0.96906	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T;T	0.62788	1.03;1.6;1.03;-0.0	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.82193	2.58	0.80722	D	1	D;D;P	0.89917	1.0;0.997;0.915	D;D;P	0.79108	0.992;0.964;0.487	T	0.80004	-0.1564	10	0.34782	T	0.22	-33.8029	17.0826	0.86603	0.0:0.0:1.0:0.0	.	36;55;36	B4E2R3;Q9BVC4-4;Q9BVC4	.;.;LST8_HUMAN	Q	36;36;36;55	ENSP00000371888:R36Q;ENSP00000301724:R36Q;ENSP00000380313:R36Q;ENSP00000301725:R55Q	ENSP00000301724:R36Q	R	+	2	0	MLST8	2196194	1.000000	0.71417	0.499000	0.27577	0.861000	0.49209	9.331000	0.96430	2.370000	0.80446	0.436000	0.28706	CGG		0.701	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2		NM_022372		16	46	0	0	0	0.000422831	0	16	46		
CCNF	899	broad.mit.edu	37	16	2485829	2485829	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:2485829G>A	ENST00000397066.4	+	4	389	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	101					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGGGAATTTCGAAGCTGCTGT	0.458																																						uc002cqd.1		NaN																	0				central_nervous_system(1)|kidney(1)	2						c.(301-303)GAA>AAA		cyclin F							130.0	118.0	122.0					16																	2485829		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2485829G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.301G>A	16.37:g.2485829G>A	ENSP00000380256:p.Glu101Lys					CCNF_uc002cqe.1_5'UTR	p.E101K	NM_001761	NP_001752	P41002	CCNF_HUMAN			4	389	+		Ovarian(90;0.17)	101					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.301G>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453460	0.96223	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.22539	1.95	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.44711	-0.9310	10	0.87932	D	0	-20.3113	17.9799	0.89138	0.0:0.0:1.0:0.0	.	101	P41002	CCNF_HUMAN	K	101;16	ENSP00000380256:E101K	ENSP00000293968:E16K	E	+	1	0	CCNF	2425830	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.403000	0.97302	2.578000	0.87016	0.655000	0.94253	GAA		0.458	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1		NM_001761		16	47	0	0	0	0.000308642	0	16	47		
CREBBP	1387	broad.mit.edu	37	16	3828129	3828129	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:3828129C>G	ENST00000262367.5	-	10	2805	c.1996G>C	c.(1996-1998)Gaa>Caa	p.E666Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.E628Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	666	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGTTTTTCTTCTAGTTCTTTT	0.403			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(1996-1998)GAA>CAA		CREB binding protein isoform a							104.0	120.0	115.0					16																	3828129		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828129C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1996G>C	16.37:g.3828129C>G	ENSP00000262367:p.Glu666Gln					CREBBP_uc002cvw.2_Missense_Mutation_p.E628Q	p.E666Q	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	10	2200	-		Ovarian(90;0.0266)	666			KIX.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1996G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409027	0.83340	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.85411	-1.98;-1.91	5.73	5.73	0.89815	Coactivator CBP, KIX (4);	0.142496	0.48286	D	0.000196	D	0.90068	0.6898	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.97110	0.984;1.0	D	0.87862	0.2665	10	0.36615	T	0.2	-20.314	20.2786	0.98501	0.0:1.0:0.0:0.0	.	696;666	Q4LE28;Q92793	.;CBP_HUMAN	Q	666;696;628	ENSP00000262367:E666Q;ENSP00000371502:E628Q	ENSP00000262367:E666Q	E	-	1	0	CREBBP	3768130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.868000	0.98415	0.557000	0.71058	GAA		0.403	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		104	64	0	0	0	0.000147903	0	104	64		
KIAA0430	9665	broad.mit.edu	37	16	15727580	15727580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:15727580C>G	ENST00000396368.3	-	5	1333	c.1127G>C	c.(1126-1128)aGa>aCa	p.R376T	KIAA0430_ENST00000344181.3_Missense_Mutation_p.R198T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R376T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R376T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R373T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R373T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	376	NYN.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTCACGGATTCTTTGCACAAC	0.428																																						uc002ddr.2		NaN																	0					0						c.(1126-1128)AGA>ACA		limkain b1							106.0	103.0	104.0					16																	15727580		1835	4087	5922	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15727580C>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1127G>C	16.37:g.15727580C>G	ENSP00000379654:p.Arg376Thr					KIAA0430_uc002ddq.2_Missense_Mutation_p.R375T|KIAA0430_uc010uzv.1_Missense_Mutation_p.R372T|KIAA0430_uc010uzw.1_Missense_Mutation_p.R375T	p.R376T	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			5	1320	-			375					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.1127G>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924932	0.92319	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.43	5.43	0.79202	Domain of unknown function DUF88 (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.33485	1.01	0.37683	D	0.923562	P;D;D;D	0.64830	0.952;0.994;0.994;0.961	D;D;D;D	0.71656	0.931;0.974;0.974;0.959	T	0.65376	-0.6183	9	0.30078	T	0.28	.	19.5914	0.95514	0.0:1.0:0.0:0.0	.	375;373;372;375	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	376;376;375;198;373;376;376	.	ENSP00000315718:R375T	R	-	2	0	KIAA0430	15635081	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.502000	0.66956	2.720000	0.93068	0.591000	0.81541	AGA		0.428	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647		50	196	0	0	0	0.000147903	0	50	196		
GGA2	23062	broad.mit.edu	37	16	23491968	23491968	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:23491968C>G	ENST00000309859.4	-	10	1086	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	GGA2_ENST00000569182.1_5'Flank|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	335	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAACATACCTCTGGAGACAGG	0.498																																						uc002dlq.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1003-1005)AGA>ACA		ADP-ribosylation factor binding protein 2							78.0	71.0	73.0					16																	23491968		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23491968C>G	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1004G>C	16.37:g.23491968C>G	ENSP00000311962:p.Arg335Thr					GGA2_uc010bxo.1_RNA	p.R335T	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	10	1080	-			335			Unstructured hinge.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1004G>C	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.906947	0.17833	.	.	ENSG00000103365	ENST00000309859	T	0.13538	2.58	4.79	3.84	0.44239	.	0.757589	0.11405	N	0.567365	T	0.06872	0.0175	N	0.08118	0	0.80722	D	1	P	0.50617	0.937	B	0.42851	0.4	T	0.26710	-1.0095	10	0.13470	T	0.59	-5.943	8.2415	0.31662	0.0:0.8954:0.0:0.1046	.	335	Q9UJY4	GGA2_HUMAN	T	335	ENSP00000311962:R335T	ENSP00000311962:R335T	R	-	2	0	GGA2	23399469	0.997000	0.39634	1.000000	0.80357	0.825000	0.46686	0.073000	0.14640	2.625000	0.88918	0.655000	0.94253	AGA		0.498	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1				29	24	0	0	0	0.000147802	0	29	24		
ITGAL	3683	broad.mit.edu	37	16	30510399	30510399	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:30510399C>T	ENST00000356798.6	+	16	2017	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R530W|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	613					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.R613W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTGCAGCTCCCGGCCCGTGGT	0.572																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1837-1839)CGG>TGG		integrin alpha L isoform a precursor	Efalizumab(DB00095)						95.0	66.0	76.0					16																	30510399		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30510399C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1837C>T	16.37:g.30510399C>T	ENSP00000349252:p.Arg613Trp					ITGAL_uc002dyj.3_Missense_Mutation_p.R530W|ITGAL_uc010vev.1_Intron	p.R613W	NM_002209	NP_002200	P20701	ITAL_HUMAN			16	2013	+			613			FG-GAP 7.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1837C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364542	0.82463	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.69926	-0.44;-0.44	6.14	5.17	0.71159	Integrin alpha-2 (1);	0.000000	0.52532	D	0.000077	T	0.81489	0.4833	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83903	0.0291	10	0.87932	D	0	.	12.194	0.54286	0.3203:0.6797:0.0:0.0	.	530;613	Q96HB1;P20701	.;ITAL_HUMAN	W	613;530	ENSP00000349252:R613W;ENSP00000350886:R530W	ENSP00000349252:R613W	R	+	1	2	ITGAL	30417900	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.838000	0.27572	1.560000	0.49568	0.650000	0.86243	CGG		0.572	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2				7	25	0	0	0	8.12818e-05	0	7	25		
CNOT1	23019	broad.mit.edu	37	16	58572154	58572154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:58572154G>A	ENST00000317147.5	-	37	5484	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	CNOT1_ENST00000245138.4_Nonsense_Mutation_p.R569*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.R1713*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1718					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATTCATCTCGACATTCAATT	0.373																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(5152-5154)CGA>TGA		CCR4-NOT transcription complex, subunit 1							75.0	72.0	73.0					16																	58572154		2198	4300	6498	SO:0001587	stop_gained	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58572154G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5152C>T	16.37:g.58572154G>A	ENSP00000320949:p.Arg1718*					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.R1713*|CNOT1_uc010vik.1_Nonsense_Mutation_p.R675*	p.R1718*	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	37	5445	-			1718					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	ENST00000317147.5	37	c.5152C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220258	0.79464	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	15.5791	0.76418	0.0:0.0:0.8539:0.1461	.	.	.	.	X	1718;569;1713	.	ENSP00000245138:R569X	R	-	1	2	CNOT1	57129655	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.465000	0.73538	2.700000	0.92200	0.591000	0.81541	CGA		0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		16	45	0	0	0	0.000422831	0	16	45		
HSD17B2	3294	broad.mit.edu	37	16	82131777	82131777	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:82131777C>T	ENST00000199936.4	+	5	1093	c.900C>T	c.(898-900)atC>atT	p.I300I	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	300					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AGGACTACATCTTAGCACAGC	0.542																																						uc002fgv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(898-900)ATC>ATT		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						167.0	122.0	138.0					16																	82131777		2201	4300	6501	SO:0001819	synonymous_variant	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131777C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.900C>T	16.37:g.82131777C>T							p.I300I	NM_002153	NP_002144	P37059	DHB2_HUMAN			5	1072	+			300					B2R7T4	Silent	SNP	ENST00000199936.4	37	c.900C>T	CCDS10936.1																																																																																				0.542	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2		NM_002153		30	40	0	0	0	0.000491102	0	30	40		
FAM57A	79850	broad.mit.edu	37	17	643751	643751	+	Missense_Mutation	SNP	C	C	T	rs144403190		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:643751C>T	ENST00000308278.8	+	4	651	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	139	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		GCAGAGGCTCCGGGGAGACCT	0.517																																						uc002frp.2		NaN																	0					0						c.(415-417)CGG>TGG		family with sequence similarity 57, member A		C	TRP/ARG	0,4406		0,0,2203	100.0	98.0	99.0		415	2.7	0.7	17	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM57A	NM_024792.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	139/258	643751	1,13005	2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:643751C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.415C>T	17.37:g.643751C>T	ENSP00000312017:p.Arg139Trp					FAM57A_uc002frq.2_Intron|FAM57A_uc002frr.2_Missense_Mutation_p.R49W	p.R139W	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	4	456	+			139			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.415C>T	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202266	0.58234	0.0	1.16E-4	ENSG00000167695	ENST00000308278;ENST00000451373	.	.	.	6.17	2.7	0.31948	TRAM/LAG1/CLN8 homology domain (3);	0.043459	0.85682	D	0.000000	T	0.80396	0.4615	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81508	-0.0901	9	0.38643	T	0.18	-23.056	13.8753	0.63648	0.3979:0.6021:0.0:0.0	.	139	Q8TBR7	FA57A_HUMAN	W	139;212	.	ENSP00000312017:R139W	R	+	1	2	FAM57A	590501	0.186000	0.23225	0.679000	0.29978	0.165000	0.22458	0.617000	0.24359	0.714000	0.32081	0.655000	0.94253	CGG		0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2		NM_024792		5	95	0	0	0	0.000602214	0	5	95		
USP6	9098	broad.mit.edu	37	17	5041030	5041030	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:5041030C>G	ENST00000574788.1	+	20	3140	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	USP6_ENST00000250066.6_Missense_Mutation_p.L304V|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.L304V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	304					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGCATTGCTCTTAAGGTTCA	0.587			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NaN		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(910-912)CTT>GTT		ubiquitin specific protease 6							223.0	195.0	205.0					17																	5041030		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5041030C>G	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.910C>G	17.37:g.5041030C>G	ENSP00000460380:p.Leu304Val					USP6_uc002gav.1_Missense_Mutation_p.L304V|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	p.L304V	NM_004505	NP_004496	P35125	UBP6_HUMAN			20	3140	+			304					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.910C>G	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	c	4.732	0.136196	0.09032	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.50001	0.76;0.76	.	.	.	Rab-GAP/TBC domain (3);	0.270973	0.40728	N	0.001021	T	0.41488	0.1161	M	0.80422	2.495	0.80722	D	1	B	0.18310	0.027	B	0.15484	0.013	T	0.04005	-1.0985	8	0.54805	T	0.06	.	.	.	.	.	304	P35125	UBP6_HUMAN	V	304	ENSP00000328010:L304V;ENSP00000250066:L304V	ENSP00000250066:L304V	L	+	1	0	USP6	4981754	1.000000	0.71417	0.007000	0.13788	0.007000	0.05969	2.055000	0.41345	-1.495000	0.01831	-1.492000	0.00969	CTT		0.587	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1		NM_004505		58	41	0	0	0	0.000147903	0	58	41		
TMEM102	284114	broad.mit.edu	37	17	7339584	7339584	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:7339584G>C	ENST00000323206.1	+	3	559	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	TMEM102_ENST00000396568.1_Missense_Mutation_p.E96Q|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000293829.4_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	96					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGGATTCGCGAGGGCTCCCT	0.617																																						uc002ggx.1		NaN																	0					0						c.(286-288)GAG>CAG		transmembrane protein 102							42.0	45.0	44.0					17																	7339584		2203	4300	6503	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7339584G>C	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.286G>C	17.37:g.7339584G>C	ENSP00000315387:p.Glu96Gln					FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.E96Q	p.E96Q	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN			3	559	+		Prostate(122;0.173)	96			Extracellular (Potential).		D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.286G>C	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925959	0.92319	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.58210	0.35;0.35	5.36	5.36	0.76844	.	0.114368	0.39341	N	0.001392	T	0.68824	0.3043	M	0.71581	2.175	0.46437	D	0.999047	D	0.76494	0.999	D	0.63877	0.919	T	0.70332	-0.4901	10	0.51188	T	0.08	-3.8126	14.5838	0.68310	0.0:0.0:1.0:0.0	.	96	Q8N9M5	TM102_HUMAN	Q	96	ENSP00000315387:E96Q;ENSP00000379815:E96Q	ENSP00000315387:E96Q	E	+	1	0	TMEM102	7280308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.846000	0.62860	2.498000	0.84270	0.655000	0.94253	GAG		0.617	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1		NM_178518		18	15	0	0	0	9.7654e-05	0	18	15		
MYH10	4628	broad.mit.edu	37	17	8396109	8396109	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:8396109C>T	ENST00000269243.4	-	31	4488	c.4350G>A	c.(4348-4350)caG>caA	p.Q1450Q	MYH10_ENST00000379980.4_Silent_p.Q1466Q|MYH10_ENST00000396239.1_Silent_p.Q1471Q|MYH10_ENST00000360416.3_Silent_p.Q1481Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1450					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAAACTTCTTCTGCTTCTTCT	0.517																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(4348-4350)CAG>CAA		myosin, heavy polypeptide 10, non-muscle							61.0	55.0	57.0					17																	8396109		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8396109C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4350G>A	17.37:g.8396109C>T						MYH10_uc002glm.2_Silent_p.Q1481Q|MYH10_uc010cnx.2_Silent_p.Q1459Q	p.Q1450Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			31	4446	-			1450			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.4350G>A	CCDS11144.1																																																																																				0.517	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				7	27	0	0	0	8.12818e-05	0	7	27		
MYH3	4621	broad.mit.edu	37	17	10558329	10558330	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:10558329_10558330CG>AT	ENST00000583535.1	-	3	139_140	c.52_53CG>AT	c.(52-54)CGg>ATg	p.R18M	MYH3_ENST00000226209.7_Missense_Mutation_p.R18M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	18					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTGACTTCCGGAGGAAAGGA	0.53																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(52-54)CGG>ATG		myosin, heavy chain 3, skeletal muscle,																																				SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10558329_10558330CG>AT		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.52_53delinsAT	17.37:g.10558329_10558330delinsAT	ENSP00000464317:p.Arg18Met						p.R18M	NM_002470	NP_002461	P11055	MYH3_HUMAN			2	129_130	-			18			Myosin head-like.		Q15492	Missense_Mutation	DNP	ENST00000583535.1	37	c.52_53CG>AT	CCDS11157.1																																																																																				0.530	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		6	107	0	0	0	6.4e-05	0	6	107		
TMEM97	27346	broad.mit.edu	37	17	26646275	26646275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26646275C>G	ENST00000226230.6	+	1	155	c.10C>G	c.(10-12)Ccg>Gcg	p.P4A	TMEM97_ENST00000336687.6_5'Flank|TMEM97_ENST00000583381.1_5'UTR|TMEM97_ENST00000582113.1_Missense_Mutation_p.P4A	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	4					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TATGGGGGCTCCGGCAACCAG	0.677																																						uc002hat.2		NaN																	0					0						c.(10-12)CCG>GCG		transmembrane protein 97							20.0	26.0	24.0					17																	26646275		2021	4164	6185	SO:0001583	missense	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26646275C>G	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.10C>G	17.37:g.26646275C>G	ENSP00000226230:p.Pro4Ala						p.P4A	NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	1	155	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		4			Cytoplasmic (Potential).		B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	37	c.10C>G	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384578	0.25031	.	.	ENSG00000109084	ENST00000226230	.	.	.	5.11	1.89	0.25635	.	1.264500	0.05513	N	0.560717	T	0.40909	0.1136	L	0.43152	1.355	0.19775	N	0.999952	B	0.06786	0.001	B	0.06405	0.002	T	0.28138	-1.0053	9	0.16896	T	0.51	0.1645	10.8491	0.46759	0.1267:0.6945:0.1788:0.0	.	4	Q5BJF2	TMM97_HUMAN	A	4	.	ENSP00000226230:P4A	P	+	1	0	TMEM97	23670402	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.036000	0.12185	0.359000	0.24239	0.561000	0.74099	CCG		0.677	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2		NM_014573		6	25	0	0	0	8.12818e-05	0	6	25		
TMEM97	27346	broad.mit.edu	37	17	26646322	26646322	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26646322C>T	ENST00000226230.6	+	1	202	c.57C>T	c.(55-57)ctC>ctT	p.L19L	TMEM97_ENST00000336687.6_5'Flank|TMEM97_ENST00000583381.1_Intron|TMEM97_ENST00000582113.1_Silent_p.L19L	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	19					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTACTTCCTCAGCCACATCC	0.672																																						uc002hat.2		NaN																	0					0						c.(55-57)CTC>CTT		transmembrane protein 97							24.0	31.0	29.0					17																	26646322		2048	4161	6209	SO:0001819	synonymous_variant	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26646322C>T	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.57C>T	17.37:g.26646322C>T							p.L19L	NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	1	202	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		19			Helical; (Potential).		B4DS02|Q07823	Silent	SNP	ENST00000226230.6	37	c.57C>T	CCDS11226.2																																																																																				0.672	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2		NM_014573		10	19	0	0	0	6.40141e-05	0	10	19		
TMEM199	147007	broad.mit.edu	37	17	26691931	26691931	+	IGR	SNP	G	G	A	rs528785239		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26691931G>A	ENST00000292114.3	+	0	3148				SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_Silent_p.F51F|VTN_ENST00000431468.1_Silent_p.F52F|VTN_ENST00000438614.1_Silent_p.F51F|CTB-96E2.2_ENST00000555059.2_Nonsense_Mutation_p.Q126*	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCCCTTTGCTGAAGGTGGTCC	0.637																																						uc010wai.1		NaN																	0					0						c.(154-156)TTC>TTT		SEBOX homeobox isoform 1							53.0	62.0	59.0					17																	26691931		2187	4285	6472	SO:0001628	intergenic_variant	645832				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:26691931G>A	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691931G>A						SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Silent_p.F51F|SARM1_uc010waj.1_Intron	p.F52F	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	170	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		52			Homeobox.			Silent	SNP	ENST00000292114.3	37	c.156C>T	CCDS11228.1																																																																																				0.637	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2		NM_152464		8	16	0	0	0	0.000157383	0	8	16		
LIG3	3980	broad.mit.edu	37	17	33310224	33310224	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33310224G>A	ENST00000378526.4	+	2	333	c.200G>A	c.(199-201)cGt>cAt	p.R67H	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.R67H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	67					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTAAGATCACGTGCCACCTAC	0.517								Other BER factors																														uc002hik.1		NaN																	0				skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(199-201)CGT>CAT	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						139.0	136.0	137.0					17																	33310224		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33310224G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.200G>A	17.37:g.33310224G>A	ENSP00000367787:p.Arg67His					LIG3_uc002hii.2_Missense_Mutation_p.R67H|LIG3_uc002hij.2_Missense_Mutation_p.R67H|LIG3_uc010cth.1_Missense_Mutation_p.R76H	p.R67H	NM_013975	NP_039269	P49916	DNLI3_HUMAN			2	308	+		Ovarian(249;0.17)	67					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.200G>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517860	0.44763	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.62941	0.13;-0.01	4.69	0.0278	0.14156	.	0.564040	0.15682	N	0.249884	T	0.35682	0.0940	L	0.27053	0.805	0.25766	N	0.9849	P;P;P;P	0.49696	0.661;0.661;0.661;0.927	B;B;B;B	0.35240	0.062;0.062;0.096;0.198	T	0.40739	-0.9547	10	0.87932	D	0	-0.1636	1.5333	0.02540	0.1935:0.1655:0.4709:0.1701	.	67;67;67;67	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	H	67	ENSP00000367787:R67H;ENSP00000262327:R67H	ENSP00000262327:R67H	R	+	2	0	LIG3	30334337	0.002000	0.14202	0.971000	0.41717	0.775000	0.43874	0.291000	0.18994	0.183000	0.20059	0.655000	0.94253	CGT		0.517	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3		NM_013975		38	77	0	0	0	0.000228196	0	38	77		
SLFN13	146857	broad.mit.edu	37	17	33768156	33768156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33768156G>A	ENST00000285013.6	-	6	2427	c.2152C>T	c.(2152-2154)Ctc>Ttc	p.L718F	SLFN13_ENST00000526861.1_Missense_Mutation_p.L718F|SLFN13_ENST00000533791.1_Missense_Mutation_p.L718F|SLFN13_ENST00000534689.1_Missense_Mutation_p.L400F|SLFN13_ENST00000360502.2_Missense_Mutation_p.L400F|SLFN13_ENST00000542635.1_Missense_Mutation_p.L718F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	718						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTGCTGAGAGAGGGGGAAGG	0.438																																						uc002hjk.1		NaN																	0				ovary(1)|breast(1)	2						c.(2152-2154)CTC>TTC		schlafen family member 13							134.0	142.0	139.0					17																	33768156		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33768156G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2152C>T	17.37:g.33768156G>A	ENSP00000285013:p.Leu718Phe					SLFN13_uc010wch.1_Missense_Mutation_p.L718F|SLFN13_uc002hjl.2_Missense_Mutation_p.L718F|SLFN13_uc010ctt.2_Missense_Mutation_p.L400F|SLFN13_uc002hjm.2_Missense_Mutation_p.L387F	p.L718F	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2482	-			718					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2152C>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	7.460	0.644566	0.14451	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	3.41	-1.55	0.08558	.	1.224490	0.05879	N	0.626096	T	0.67795	0.2931	N	0.21617	0.685	0.09310	N	1	B;B	0.21520	0.057;0.018	B;B	0.24006	0.05;0.031	T	0.49000	-0.8984	10	0.20519	T	0.43	.	2.7925	0.05392	0.3941:0.0:0.4023:0.2035	.	400;718	Q68D06-2;Q68D06	.;SLN13_HUMAN	F	718;400;718;718;400	ENSP00000285013:L718F;ENSP00000353692:L400F;ENSP00000434439:L718F;ENSP00000444016:L718F;ENSP00000435442:L400F	ENSP00000285013:L718F	L	-	1	0	SLFN13	30792269	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.039000	0.03550	-0.395000	0.07715	0.407000	0.27541	CTC		0.438	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1		NM_144682		33	207	0	0	0	0.000339439	0	33	207		
PEX12	5193	broad.mit.edu	37	17	33902981	33902981	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33902981C>T	ENST00000225873.4	-	3	1507	c.900G>A	c.(898-900)atG>atA	p.M300I	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	300					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACACAGTCTTCATTTTGGGTA	0.458																																						uc002hjp.2		NaN																	0					0						c.(898-900)ATG>ATA		peroxisomal biogenesis factor 12							216.0	177.0	190.0					17																	33902981		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33902981C>T	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.900G>A	17.37:g.33902981C>T	ENSP00000225873:p.Met300Ile						p.M300I	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1516	-			300			Cytoplasmic (Potential).		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.900G>A	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672754	0.29693	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84070	-1.8	5.45	5.45	0.79879	.	0.517494	0.21165	N	0.079098	T	0.69061	0.3069	N	0.14661	0.345	0.31610	N	0.651573	B	0.06786	0.001	B	0.08055	0.003	T	0.65965	-0.6040	10	0.25751	T	0.34	-8.3216	11.7125	0.51633	0.0:0.9198:0.0:0.0802	.	300	O00623	PEX12_HUMAN	I	300	ENSP00000225873:M300I	ENSP00000225873:M300I	M	-	3	0	PEX12	30927094	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.999000	0.40806	2.555000	0.86185	0.655000	0.94253	ATG		0.458	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2		NM_000286		24	98	0	0	0	0.000375601	0	24	98		
MRM1	79922	broad.mit.edu	37	17	34964825	34964825	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:34964825G>C	ENST00000585770.1	+	5	709	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	MRM1_ENST00000250156.7_Missense_Mutation_p.E346Q					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCAGGCCCAGAGAAAGAGAG	0.622																																						uc002hne.2		NaN																	0					0						c.(1036-1038)GAG>CAG		mitochondrial rRNA methyltransferase 1 homolog							107.0	104.0	105.0					17																	34964825		2203	4300	6503	SO:0001583	missense	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34964825G>C	AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.451G>C	17.37:g.34964825G>C	ENSP00000465317:p.Glu151Gln					MRM1_uc002hnf.2_Missense_Mutation_p.E151Q	p.E346Q	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	5	1251	+		Breast(25;0.00957)|Ovarian(249;0.17)	346						Missense_Mutation	SNP	ENST00000585770.1	37	c.1036G>C		.	.	.	.	.	.	.	.	.	.	G	10.89	1.479092	0.26511	.	.	ENSG00000129282	ENST00000250156	T	0.46063	0.88	4.7	3.68	0.42216	.	0.514305	0.14903	N	0.291695	T	0.33206	0.0855	L	0.27053	0.805	0.09310	N	1	P	0.51791	0.948	B	0.44315	0.446	T	0.14755	-1.0461	10	0.56958	D	0.05	-0.1663	11.4022	0.49876	0.0:0.0:0.8204:0.1796	.	346	Q6IN84	MRM1_HUMAN	Q	346	ENSP00000250156:E346Q	ENSP00000250156:E346Q	E	+	1	0	MRM1	32038938	0.170000	0.23016	0.002000	0.10522	0.011000	0.07611	4.543000	0.60684	2.434000	0.82447	0.563000	0.77884	GAG		0.622	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1		NM_024864		24	62	0	0	0	9.22233e-05	0	24	62		
CDK12	51755	broad.mit.edu	37	17	37627781	37627781	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:37627781C>T	ENST00000447079.4	+	2	1729	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	CDK12_ENST00000430627.2_Silent_p.L566L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	566					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCAACCACCTCTGCCTCCTTC	0.547			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NaN		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(1696-1698)CTG>TTG		Cdc2-related kinase, arginine/serine-rich							210.0	197.0	202.0					17																	37627781		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627781C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1696C>T	17.37:g.37627781C>T		TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Silent_p.L565L|CDK12_uc002hrw.3_Silent_p.L566L	p.L566L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			2	2282	+			566					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.1696C>T	CCDS11337.1																																																																																				0.547	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507		71	259	0	0	0	0.000147903	0	71	259		
DBF4B	80174	broad.mit.edu	37	17	42828543	42828543	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42828543C>T	ENST00000315005.3	+	14	1908	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	590					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTGGACATCTCTGCCAGGCCA	0.552																																						uc002ihf.2		NaN																	0					0						c.(1768-1770)CTC>CTT		DBF4 homolog B isoform 1							92.0	81.0	85.0					17																	42828543		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828543C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1770C>T	17.37:g.42828543C>T						DBF4B_uc010wjc.1_Intron	p.L590L	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			14	1983	+		Prostate(33;0.0322)	590					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1770C>T	CCDS11485.1																																																																																				0.552	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1		NM_025104		46	42	0	0	0	0.000147903	0	46	42		
ADAM11	4185	broad.mit.edu	37	17	42850284	42850284	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42850284C>T	ENST00000200557.6	+	9	907	c.738C>T	c.(736-738)atC>atT	p.I246I	ADAM11_ENST00000535346.1_Silent_p.I46I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	246	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)			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)				TAATTGTGATCAACGACCACC	0.612																																						uc002ihh.2		NaN																	0				pancreas(1)	1						c.(736-738)ATC>ATT		ADAM metallopeptidase domain 11 preproprotein							98.0	97.0	97.0					17																	42850284		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.chr17:42850284C>T	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.738C>T	17.37:g.42850284C>T						ADAM11_uc010wjd.1_Silent_p.I46I	p.I246I	NM_002390	NP_002381	O75078	ADA11_HUMAN			9	738	+		Prostate(33;0.0959)	246			Extracellular (Potential).|Peptidase M12B.		Q14808|Q14809|Q14810	Silent	SNP	ENST00000200557.6	37	c.738C>T	CCDS11486.1																																																																																				0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1		NM_002390		9	29	0	0	0	0.000274275	0	9	29		
EFTUD2	9343	broad.mit.edu	37	17	42942371	42942371	+	Silent	SNP	C	C	T	rs200389815		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42942371C>T	ENST00000426333.2	-	14	1509	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	EFTUD2_ENST00000592576.1_Silent_p.T394T|EFTUD2_ENST00000591382.1_Silent_p.T404T|EFTUD2_ENST00000402521.3_Silent_p.T369T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	404	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NaN																	0				ovary(1)	1						c.(1210-1212)ACG>ACA		elongation factor Tu GTP binding domain		C	,	0,4406		0,0,2203	165.0	137.0	146.0		1107,1212	2.9	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EFTUD2	NM_001142605.1,NM_004247.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	369/938,404/973	42942371	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42942371C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1212G>A	17.37:g.42942371C>T			OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	912	EFTUD2_uc010wje.1_Silent_p.T369T|EFTUD2_uc010wjf.1_Silent_p.T394T	p.T404T	NM_004247	NP_004238	Q15029	U5S1_HUMAN			14	1473	-		Prostate(33;0.109)	404					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	c.1212G>A	CCDS11489.1																																																																																				0.547	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1		NM_004247		18	83	0	0	0	0.000566183	0	18	83		
MKS1	54903	broad.mit.edu	37	17	56288082	56288082	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:56288082G>A	ENST00000393119.2	-	11	1036	c.962C>T	c.(961-963)tCa>tTa	p.S321L	MKS1_ENST00000546108.1_Missense_Mutation_p.S118L|MKS1_ENST00000337050.7_Missense_Mutation_p.S321L|MKS1_ENST00000313863.6_Missense_Mutation_p.S321L|MKS1_ENST00000537529.2_Missense_Mutation_p.S311L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	321	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCTTGGGCTGAAACTACGAG	0.438																																						uc002ivr.1		NaN																	0				ovary(1)	1						c.(961-963)TCA>TTA		Meckel syndrome type 1 protein isoform 1							115.0	107.0	110.0					17																	56288082		1877	4117	5994	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56288082G>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.962C>T	17.37:g.56288082G>A	ENSP00000376827:p.Ser321Leu					MKS1_uc010wnq.1_Missense_Mutation_p.S118L|MKS1_uc002ivs.1_Missense_Mutation_p.S321L	p.S321L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			11	1037	-			321			B9.		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.962C>T	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.328506|5.328506	0.95733|0.95733	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	.|T;T;T;T	.|0.71934	.|-0.61;-0.61;-0.61;-0.61	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.86451	.|0.5936	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.993	.|D;D	.|0.77004	.|0.989;0.959	.|D	.|0.88455	.|0.3051	.|10	.|0.72032	.|D	.|0.01	-1.7198|-1.7198	17.9695|17.9695	0.89108|0.89108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|321;321	.|A8MPP8;Q9NXB0	.|.;MKS1_HUMAN	X|L	322|311;321;321;321;118	.|ENSP00000442096:S311L;ENSP00000376827:S321L;ENSP00000338407:S321L;ENSP00000443012:S118L	.|ENSP00000338407:S321L	Q|S	-|-	1|2	0|0	MKS1|MKS1	53643081|53643081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	9.042000|9.042000	0.93793|0.93793	2.548000|2.548000	0.85928|0.85928	0.643000|0.643000	0.83706|0.83706	CAG|TCA		0.438	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2		NM_017777		29	59	0	0	0	0.000279167	0	29	59		
MED13	9969	broad.mit.edu	37	17	60069976	60069976	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:60069976C>A	ENST00000397786.2	-	11	2264	c.2188G>T	c.(2188-2190)Gat>Tat	p.D730Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	730					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGTCCCATCTTCTACCTGC	0.338																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(2188-2190)GAT>TAT		mediator complex subunit 13							112.0	99.0	103.0					17																	60069976		1850	4089	5939	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60069976C>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2188G>T	17.37:g.60069976C>A	ENSP00000380888:p.Asp730Tyr						p.D730Y	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			11	2265	-			730					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2188G>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605633	0.87157	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75938	-0.98	5.66	5.66	0.87406	.	0.589848	0.18037	N	0.153751	T	0.79936	0.4532	L	0.46157	1.445	0.58432	D	0.999995	D	0.61697	0.99	P	0.53593	0.73	T	0.81252	-0.1017	10	0.87932	D	0	-28.8636	19.7532	0.96277	0.0:1.0:0.0:0.0	.	730	Q9UHV7	MED13_HUMAN	Y	730;729	ENSP00000380888:D730Y	ENSP00000262436:D729Y	D	-	1	0	MED13	57424758	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.299000	0.72770	2.682000	0.91365	0.650000	0.86243	GAT		0.338	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		9	52	1	0	3.09899e-07	0.000274275	4.90421e-06	9	52		
DDX5	1655	broad.mit.edu	37	17	62496163	62496163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:62496163G>A	ENST00000225792.5	-	13	2124	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Nonsense_Mutation_p.Q496*|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Nonsense_Mutation_p.Q575*	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	575	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGTATTGCTGAGTGCTATCA	0.418			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2		NaN		Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(1723-1725)CAG>TAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							164.0	135.0	145.0					17																	62496163		2203	4300	6503	SO:0001587	stop_gained	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496163G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1723C>T	17.37:g.62496163G>A	ENSP00000225792:p.Gln575*					POLG2_uc002jei.2_5'Flank|POLG2_uc010deg.1_5'Flank|DDX5_uc010deh.2_Nonsense_Mutation_p.Q575*|DDX5_uc002jej.2_Nonsense_Mutation_p.Q470*|DDX5_uc010wqa.1_Nonsense_Mutation_p.Q496*	p.Q575*	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1970	-	Breast(5;2.15e-14)		575					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Nonsense_Mutation	SNP	ENST00000225792.5	37	c.1723C>T	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	G	38	6.873741	0.97901	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.53	5.53	0.82687	.	0.370287	0.31370	N	0.007769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-6.3778	19.903	0.96995	0.0:0.0:1.0:0.0	.	.	.	.	X	575;505;564	.	ENSP00000225792:Q564X	Q	-	1	0	DDX5	59926625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.855000	0.75445	2.776000	0.95493	0.650000	0.86243	CAG		0.418	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396		36	51	0	0	0	0.00058488	0	36	51		
SLC25A19	60386	broad.mit.edu	37	17	73282772	73282772	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:73282772G>C	ENST00000402418.3	-	1	983	c.74C>G	c.(73-75)tCt>tGt	p.S25C	SLC25A19_ENST00000442286.2_Missense_Mutation_p.S25C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.S25C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.S25C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.S25C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.S25C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	25					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AACAAGTCCAGACACAGACCC	0.537																																						uc002jns.3		NaN																	0				ovary(1)	1						c.(73-75)TCT>TGT		solute carrier family 25, member 19							132.0	102.0	112.0					17																	73282772		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73282772G>C		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.74C>G	17.37:g.73282772G>C	ENSP00000385312:p.Ser25Cys					SLC25A19_uc010dge.2_Missense_Mutation_p.S25C|SLC25A19_uc002jnv.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnu.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnw.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnt.3_Missense_Mutation_p.S25C	p.S25C	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		1	984	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		25			Helical; Name=1; (Potential).|Solcar 1.		E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.74C>G	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800585	0.50315	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.7	5.7	0.88788	Mitochondrial carrier domain (2);	0.104359	0.64402	D	0.000002	D	0.91683	0.7371	M	0.88310	2.945	0.47065	D	0.999308	D;D	0.89917	0.999;1.0	D;D	0.79108	0.983;0.992	D	0.92617	0.6104	10	0.87932	D	0	-15.3556	19.4448	0.94843	0.0:0.0:1.0:0.0	.	25;25	E9PF74;Q9HC21	.;TPC_HUMAN	C	25	ENSP00000397818:S25C;ENSP00000402202:S25C;ENSP00000319574:S25C;ENSP00000385312:S25C;ENSP00000364410:S25C	ENSP00000319574:S25C	S	-	2	0	SLC25A19	70794367	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.163000	0.77524	2.696000	0.92011	0.561000	0.74099	TCT		0.537	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1		NM_021734		4	56	0	0	0	0.00024832	0	4	56		
RECQL5	9400	broad.mit.edu	37	17	73658835	73658836	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:73658835_73658836CC>AA	ENST00000317905.5	-	4	653_654	c.494_495GG>TT	c.(493-495)tGG>tTT	p.W165F	RECQL5_ENST00000423245.2_Missense_Mutation_p.W138F|RECQL5_ENST00000340830.5_Missense_Mutation_p.W165F|RECQL5_ENST00000584999.1_Missense_Mutation_p.W165F|RECQL5_ENST00000420326.2_Missense_Mutation_p.W165F	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	165	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTCATGCCCCCATTGGGAAAC	0.609								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	0				kidney(3)	3						c.(493-495)TGG>TTT	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1																																				SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73658835_73658836CC>AA	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.494_495delinsAA	17.37:g.73658835_73658836delinsAA	ENSP00000317636:p.Trp165Phe					RECQL5_uc010dgk.2_Missense_Mutation_p.W138F|RECQL5_uc002jpb.1_Missense_Mutation_p.W165F|RECQL5_uc002joz.3_Missense_Mutation_p.W165F|RECQL5_uc002jpa.3_Missense_Mutation_p.W165F	p.W165F	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	650_651	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		165			Helicase ATP-binding.		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	DNP	ENST00000317905.5	37	c.494_495GG>TT	CCDS42380.1																																																																																				0.609	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		10	180	0	0	0	6.4e-05	0	10	180		
MYOM1	8736	broad.mit.edu	37	18	3129298	3129298	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:3129298G>T	ENST00000356443.4	-	18	3059	c.2726C>A	c.(2725-2727)cCg>cAg	p.P909Q	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.P909Q|MYOM1_ENST00000261606.7_Intron	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	909					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGTGGTGGCGGGGTAAGCTC	0.493											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002klp.2		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2725-2727)CCG>CAG		myomesin 1 isoform a							118.0	124.0	122.0					18																	3129298		1911	4112	6023	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129298G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2726C>A	18.37:g.3129298G>T	ENSP00000348821:p.Pro909Gln		OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_uc002klq.2_Intron	p.P909Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN			18	3060	-			909					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2726C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	0.084	-1.178138	0.01633	.	.	ENSG00000101605	ENST00000356443;ENST00000400569	T;T	0.42131	0.98;0.98	5.88	3.17	0.36434	.	0.507392	0.21037	N	0.081228	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	P	0.39216	0.664	B	0.36989	0.238	T	0.08351	-1.0726	10	0.24483	T	0.36	.	6.2042	0.20593	0.202:0.0:0.6678:0.1303	.	909	P52179	MYOM1_HUMAN	Q	909	ENSP00000348821:P909Q;ENSP00000383413:P909Q	ENSP00000348821:P909Q	P	-	2	0	MYOM1	3119298	0.998000	0.40836	0.008000	0.14137	0.078000	0.17371	3.265000	0.51561	0.414000	0.25790	-0.136000	0.14681	CCG		0.493	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803		5	75	1	0	0.000602214	0.000602214	0.00908751	5	75		
DTNA	1837	broad.mit.edu	37	18	32438313	32438313	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:32438313G>C	ENST00000399113.3	+	15	1516	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	DTNA_ENST00000269191.6_Missense_Mutation_p.E506Q|DTNA_ENST00000283365.9_Missense_Mutation_p.E449Q|DTNA_ENST00000399121.5_Missense_Mutation_p.E446Q|DTNA_ENST00000598774.1_Missense_Mutation_p.E449Q|DTNA_ENST00000597599.1_Missense_Mutation_p.E446Q|DTNA_ENST00000598142.1_Missense_Mutation_p.E449Q|DTNA_ENST00000599844.1_Missense_Mutation_p.E128Q|DTNA_ENST00000598334.1_Missense_Mutation_p.E446Q|DTNA_ENST00000596745.1_Missense_Mutation_p.E256Q|DTNA_ENST00000597674.1_Missense_Mutation_p.E128Q|DTNA_ENST00000601125.1_Missense_Mutation_p.E128Q|DTNA_ENST00000595022.1_Missense_Mutation_p.E446Q|DTNA_ENST00000444659.1_Missense_Mutation_p.E506Q|DTNA_ENST00000269192.7_Missense_Mutation_p.E215Q|DTNA_ENST00000591182.1_Missense_Mutation_p.E154Q|DTNA_ENST00000348997.5_Missense_Mutation_p.E503Q|DTNA_ENST00000556414.3_Missense_Mutation_p.E158Q|DTNA_ENST00000399097.3_Missense_Mutation_p.E154Q|DTNA_ENST00000269190.7_Missense_Mutation_p.E507Q			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	506					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCCCACGCCAGAGAAGGCACA	0.512																																						uc010dmn.1		NaN																	0					0						c.(1516-1518)GAG>CAG		dystrobrevin alpha isoform 1							68.0	66.0	67.0					18																	32438313		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438313G>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1516G>C	18.37:g.32438313G>C	ENSP00000382064:p.Glu506Gln					DTNA_uc010xbx.1_Missense_Mutation_p.E256Q|DTNA_uc002kxv.3_Missense_Mutation_p.E449Q|DTNA_uc002kxw.2_Missense_Mutation_p.E449Q|DTNA_uc010dmj.2_Missense_Mutation_p.E446Q|DTNA_uc002kxz.2_Missense_Mutation_p.E446Q|DTNA_uc002kxy.2_Missense_Mutation_p.E446Q|DTNA_uc010dml.2_Missense_Mutation_p.E446Q|DTNA_uc002kyb.3_Missense_Mutation_p.E503Q|DTNA_uc010dmm.2_Missense_Mutation_p.E506Q|DTNA_uc010xby.1_Missense_Mutation_p.E196Q|DTNA_uc010dmo.2_Missense_Mutation_p.E128Q|DTNA_uc002kyd.3_Missense_Mutation_p.E128Q|DTNA_uc010xbz.1_Missense_Mutation_p.E215Q|DTNA_uc010xca.1_Missense_Mutation_p.E158Q|DTNA_uc002kye.2_Missense_Mutation_p.E154Q	p.E506Q	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			15	1517	+			506			Potential.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1516G>C	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572750	0.86542	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.20332	2.09;2.08;2.1;2.08;2.1;2.08	5.52	5.52	0.82312	.	0.047421	0.85682	D	0.000000	T	0.27454	0.0674	N	0.14661	0.345	0.80722	D	1	B;B;P;B;D;B;P;B;P;P;B;B;P;B;P	0.56287	0.104;0.182;0.605;0.374;0.975;0.325;0.783;0.007;0.845;0.956;0.061;0.028;0.76;0.219;0.844	B;B;B;B;P;B;P;B;P;P;B;B;B;B;B	0.59825	0.237;0.267;0.176;0.168;0.864;0.24;0.622;0.007;0.625;0.555;0.16;0.039;0.323;0.16;0.277	T	0.05649	-1.0872	10	0.25751	T	0.34	-19.1779	19.4422	0.94825	0.0:0.0:1.0:0.0	.	158;215;196;256;128;506;506;446;449;154;503;446;457;449;449	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	Q	449;449;446;507;154;503;506;506;506;506;215;154;158	ENSP00000283365:E449Q;ENSP00000269190:E507Q;ENSP00000336682:E503Q;ENSP00000405819:E506Q;ENSP00000269191:E506Q;ENSP00000382064:E506Q	ENSP00000269190:E507Q	E	+	1	0	DTNA	30692311	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.869000	0.99810	2.612000	0.88384	0.650000	0.86243	GAG		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		NM_001390		25	22	0	0	0	0.000117367	0	25	22		
CD226	10666	broad.mit.edu	37	18	67614163	67614163	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:67614163G>T	ENST00000280200.4	-	3	457	c.189C>A	c.(187-189)ttC>ttA	p.F63L	CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.F63L|CD226_ENST00000577287.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	63	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GAGTAGGGCTGAAAATGGCTA	0.453																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2		NaN																	0					0						c.(187-189)TTC>TTA		CD226 molecule precursor							106.0	88.0	94.0					18																	67614163		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614163G>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.189C>A	18.37:g.67614163G>T	ENSP00000280200:p.Phe63Leu					CD226_uc002lkm.3_Missense_Mutation_p.F63L	p.F63L	NM_006566	NP_006557	Q15762	CD226_HUMAN			2	636	-		Esophageal squamous(42;0.129)	63			Ig-like C2-type 1.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.189C>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	G	8.839	0.941872	0.18281	.	.	ENSG00000150637	ENST00000280200	T	0.63913	-0.07	5.51	1.81	0.25067	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268744	0.42821	N	0.000656	T	0.56529	0.1991	M	0.65975	2.015	0.09310	N	1	B	0.30763	0.294	B	0.34652	0.187	T	0.45934	-0.9227	10	0.28530	T	0.3	.	7.9261	0.29876	0.3278:0.0:0.6722:0.0	.	63	Q15762	CD226_HUMAN	L	63	ENSP00000280200:F63L	ENSP00000280200:F63L	F	-	3	2	CD226	65765143	0.943000	0.32029	0.006000	0.13384	0.002000	0.02628	1.182000	0.32029	0.124000	0.18369	-0.122000	0.15005	TTC		0.453	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3		NM_006566		28	22	1	0	1.75199e-13	0.000184323	2.8293e-12	28	22		
SOCS6	9306	broad.mit.edu	37	18	67992477	67992477	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:67992477G>A	ENST00000397942.3	+	2	889	c.573G>A	c.(571-573)ctG>ctA	p.L191L	SOCS6_ENST00000582322.1_Silent_p.L191L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	191					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAATTCACTGAAGAGCTCGG	0.522																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1		NaN																	0				large_intestine(1)|lung(1)	2						c.(571-573)CTG>CTA		suppressor of cytokine signaling 6							93.0	81.0	85.0					18																	67992477		2203	4300	6503	SO:0001819	synonymous_variant	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992477G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.573G>A	18.37:g.67992477G>A						SOCS6_uc010dqq.2_Silent_p.L191L	p.L191L	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	889	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	191					Q8WUM3	Silent	SNP	ENST00000397942.3	37	c.573G>A	CCDS11998.1																																																																																				0.522	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2				25	65	0	0	0	9.22233e-05	0	25	65		
GZMM	3004	broad.mit.edu	37	19	549010	549010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:549010G>A	ENST00000264553.3	+	4	475	c.437G>A	c.(436-438)aGc>aAc	p.S146N		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCGGTGCAGCATGGCCGGC	0.682																																						uc002low.1		NaN																	0					0						c.(436-438)AGC>AAC		granzyme M precursor							13.0	15.0	14.0					19																	549010		2189	4274	6463	SO:0001583	missense	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:549010G>A		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"""lymphocyte met-ase 1"""	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.437G>A	19.37:g.549010G>A	ENSP00000264553:p.Ser146Asn						p.S146N	NM_005317	NP_005308	P51124	GRAM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	482	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	146			Peptidase S1.			Missense_Mutation	SNP	ENST00000264553.3	37	c.437G>A	CCDS12031.1	.	.	.	.	.	.	.	.	.	.	g	13.49	2.254190	0.39896	.	.	ENSG00000197540	ENST00000264553	D	0.92965	-3.14	2.91	0.432	0.16529	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.232516	0.21909	U	0.067322	D	0.91270	0.7248	M	0.64997	1.995	0.09310	N	1	P	0.43024	0.798	P	0.53912	0.737	T	0.82172	-0.0589	10	0.39692	T	0.17	.	3.6187	0.08087	0.1572:0.264:0.5788:0.0	.	146	P51124	GRAM_HUMAN	N	146	ENSP00000264553:S146N	ENSP00000264553:S146N	S	+	2	0	GZMM	500010	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.057000	0.14279	0.576000	0.29452	0.550000	0.68814	AGC		0.682	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2		NM_005317		6	19	0	0	0	3.59834e-05	0	6	19		
STAP2	55620	broad.mit.edu	37	19	4333712	4333712	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:4333712C>A	ENST00000594605.1	-	3	399	c.276G>T	c.(274-276)cgG>cgT	p.R92R	STAP2_ENST00000600324.1_Silent_p.R92R	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	92	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTGATCCCGGAGAATCA	0.547																																						uc002mab.2		NaN																	0				central_nervous_system(1)	1						c.(274-276)CGG>CGT		signal transducing adaptor family member 2							71.0	66.0	68.0					19																	4333712		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4333712C>A	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.276G>T	19.37:g.4333712C>A						STAP2_uc002mac.2_Silent_p.R92R|STAP2_uc002mad.2_5'UTR	p.R92R	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	3	373	-		Hepatocellular(1079;0.137)	92			PH.		A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.276G>T	CCDS45926.1																																																																																				0.547	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2		NM_001013841		6	41	1	0	3.59834e-05	3.59834e-05	0.000558247	6	41		
PRR22	163154	broad.mit.edu	37	19	5784138	5784138	+	Intron	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:5784138G>C	ENST00000419421.2	-	3	298				CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22											endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGCCTGTTTGGGAGATGCCA	0.637																																						uc002mdb.1		NaN																	0					0						c.(112-114)CCC>CCG		proline rich 22 isoform 2							83.0	104.0	97.0					19																	5784138		2195	4277	6472	SO:0001627	intron_variant	163154							g.chr19:5784138G>C	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.194-74C>G	19.37:g.5784138G>C						PRR22_uc010xiv.1_Intron	p.P38P	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN			1	473	-			38					E9PB31	Silent	SNP	ENST00000419421.2	37	c.114C>G	CCDS45933.1																																																																																				0.637	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1		NM_153359		16	137	0	0	0	0.000566183	0	16	137		
MUC16	94025	broad.mit.edu	37	19	9059205	9059205	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:9059205C>T	ENST00000397910.4	-	3	28444	c.28241G>A	c.(28240-28242)aGa>aAa	p.R9414K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9416	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGGACCTCTGCTCATAGG	0.512																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28240-28242)AGA>AAA		mucin 16							122.0	119.0	120.0					19																	9059205		2016	4195	6211	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059205C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28241G>A	19.37:g.9059205C>T	ENSP00000381008:p.Arg9414Lys						p.R9414K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28445	-			9416			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28241G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.084	0.772961	0.16051	.	.	ENSG00000181143	ENST00000397910	T	0.25414	1.8	2.14	-0.337	0.12654	.	.	.	.	.	T	0.16128	0.0388	L	0.27053	0.805	.	.	.	P	0.41041	0.736	B	0.41036	0.346	T	0.19614	-1.0300	8	0.87932	D	0	.	3.2904	0.06947	0.0:0.4216:0.3794:0.199	.	9414	B5ME49	.	K	9414	ENSP00000381008:R9414K	ENSP00000381008:R9414K	R	-	2	0	MUC16	8920205	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-3.471000	0.00460	-0.015000	0.14150	0.306000	0.20318	AGA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		47	100	0	0	0	0.000147903	0	47	100		
ZNF791	163049	broad.mit.edu	37	19	12738664	12738664	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:12738664A>G	ENST00000343325.4	+	4	483	c.321A>G	c.(319-321)aaA>aaG	p.K107K	ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.K75K|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCTGTGGAAAAGCCTTCATGC	0.433																																						uc002mua.2		NaN																	0				ovary(2)	2						c.(319-321)AAA>AAG		zinc finger protein 791							158.0	151.0	153.0					19																	12738664		2203	4300	6503	SO:0001819	synonymous_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738664A>G	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.321A>G	19.37:g.12738664A>G						ZNF791_uc010xml.1_Silent_p.K75K|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR	p.K107K	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	483	+			107			C2H2-type 1.		B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	c.321A>G	CCDS12273.1																																																																																				0.433	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1		NM_153358		4	231	0	0	0	0.00024832	0	4	231		
ZSWIM4	65249	broad.mit.edu	37	19	13919937	13919937	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:13919937C>G	ENST00000254323.2	+	5	1104	c.915C>G	c.(913-915)ctC>ctG	p.L305L	ZSWIM4_ENST00000440752.2_Silent_p.L22L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	305							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGCTGATTCTCATGACCGAGC	0.697																																						uc002mxh.1		NaN																	0				central_nervous_system(2)	2						c.(913-915)CTC>CTG		zinc finger, SWIM-type containing 4							49.0	53.0	51.0					19																	13919937		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13919937C>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.915C>G	19.37:g.13919937C>G						ZSWIM4_uc010xng.1_Silent_p.L111L	p.L305L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		5	1104	+			305						Silent	SNP	ENST00000254323.2	37	c.915C>G	CCDS32924.1																																																																																				0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1		XM_031342		15	42	0	0	0	0.000308642	0	15	42		
PGLYRP2	114770	broad.mit.edu	37	19	15586931	15586931	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15586931C>A	ENST00000340880.4	-	2	1030	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.D184Y	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	184					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCTCCAATATCTGCAGTGGTG	0.542																																						uc002nbf.3		NaN																	0				ovary(3)	3						c.(550-552)GAT>TAT		peptidoglycan recognition protein 2 precursor							145.0	129.0	135.0					19																	15586931		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586931C>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.550G>T	19.37:g.15586931C>A	ENSP00000345968:p.Asp184Tyr					PGLYRP2_uc002nbg.3_Missense_Mutation_p.D184Y	p.D184Y	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	683	-			184					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.550G>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245423	0.39697	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.14893	2.63;2.47	4.54	2.41	0.29592	.	.	.	.	.	T	0.24928	0.0605	L	0.44542	1.39	0.09310	N	1	D;D	0.59767	0.985;0.986	P;P	0.57620	0.824;0.65	T	0.07309	-1.0779	9	0.72032	D	0.01	.	7.1379	0.25539	0.0:0.7893:0.0:0.2107	.	184;184	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Y	184	ENSP00000345968:D184Y;ENSP00000292609:D184Y	ENSP00000292609:D184Y	D	-	1	0	PGLYRP2	15447931	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.185000	0.16958	0.371000	0.24564	-0.137000	0.14449	GAT		0.542	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1		NM_052890		21	137	1	0	2.39187e-15	0.000132079	3.88539e-14	21	137		
PGLYRP2	114770	broad.mit.edu	37	19	15587202	15587202	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15587202C>G	ENST00000340880.4	-	2	759	c.279G>C	c.(277-279)ctG>ctC	p.L93L	PGLYRP2_ENST00000292609.4_Silent_p.L93L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	93					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCTCCTTGGTCAGGCCTAACA	0.617																																						uc002nbf.3		NaN																	0				ovary(3)	3						c.(277-279)CTG>CTC		peptidoglycan recognition protein 2 precursor							139.0	96.0	111.0					19																	15587202		2203	4300	6503	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587202C>G	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.279G>C	19.37:g.15587202C>G						PGLYRP2_uc002nbg.3_Silent_p.L93L	p.L93L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	412	-			93					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.279G>C	CCDS12330.2																																																																																				0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1		NM_052890		8	58	0	0	0	0.000274275	0	8	58		
PGLYRP2	114770	broad.mit.edu	37	19	15587364	15587364	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15587364C>T	ENST00000340880.4	-	2	597	c.117G>A	c.(115-117)caG>caA	p.Q39Q	PGLYRP2_ENST00000292609.4_Silent_p.Q39Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	39					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGGCACTTTCTGCTCCAGCT	0.602																																						uc002nbf.3		NaN																	0				ovary(3)	3						c.(115-117)CAG>CAA		peptidoglycan recognition protein 2 precursor							39.0	38.0	39.0					19																	15587364		2203	4300	6503	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587364C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.117G>A	19.37:g.15587364C>T						PGLYRP2_uc002nbg.3_Silent_p.Q39Q	p.Q39Q	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	250	-			39					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.117G>A	CCDS12330.2																																																																																				0.602	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1		NM_052890		4	25	0	0	0	0.000602214	0	4	25		
COMP	1311	broad.mit.edu	37	19	18895873	18895873	+	Missense_Mutation	SNP	C	C	G	rs312262899		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:18895873C>G	ENST00000222271.2	-	16	1791	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	COMP_ENST00000425807.1_Missense_Mutation_p.E530Q|COMP_ENST00000542601.2_Missense_Mutation_p.E550Q	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	583	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AACGTGCCCTCGAAGTCCACG	0.582																																						uc002nke.2		NaN																	0					0	GRCh37	CM990431	COMP	M		c.(1747-1749)GAG>CAG		cartilage oligomeric matrix protein precursor							145.0	121.0	129.0					19																	18895873		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18895873C>G	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1747G>C	19.37:g.18895873C>G	ENSP00000222271:p.Glu583Gln					COMP_uc002nkd.2_Missense_Mutation_p.E550Q|COMP_uc010xqj.1_Missense_Mutation_p.E530Q	p.E583Q	NM_000095	NP_000086	P49747	COMP_HUMAN			16	1783	-			583			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1747G>C	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822139	0.71028	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.92249	-3.0;-3.0;-3.0	4.19	3.16	0.36331	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.95121	0.8419	M	0.79475	2.455	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94669	0.7855	10	0.72032	D	0.01	-35.0621	10.5884	0.45296	0.0:0.9024:0.0:0.0976	.	530;583	B4DKJ3;P49747	.;COMP_HUMAN	Q	550;583;530;570	ENSP00000439156:E550Q;ENSP00000222271:E583Q;ENSP00000403792:E530Q	ENSP00000222271:E583Q	E	-	1	0	COMP	18756873	1.000000	0.71417	0.993000	0.49108	0.671000	0.39405	5.802000	0.69122	0.980000	0.38523	0.484000	0.47621	GAG		0.582	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1		NM_000095		11	72	0	0	0	0.000151284	0	11	72		
FBL	2091	broad.mit.edu	37	19	40329725	40329725	+	Missense_Mutation	SNP	C	C	T	rs371072739		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:40329725C>T	ENST00000221801.3	-	5	612	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	167					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G167R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GAGGCAGCCCCGAGGTAGAGA	0.602																																						uc002omn.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(499-501)GGG>AGG		fibrillarin		C	ARG/GLY	0,4406		0,0,2203	133.0	121.0	125.0		499	5.3	1.0	19		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBL	NM_001436.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	167/322	40329725	1,13005	2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40329725C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.499G>A	19.37:g.40329725C>T	ENSP00000221801:p.Gly167Arg					FBL_uc002omm.1_Missense_Mutation_p.G81R|FBL_uc002omo.2_Missense_Mutation_p.G166R|FBL_uc010egr.2_Missense_Mutation_p.G167R	p.G167R	NM_001436	NP_001427	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	5	613	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	167					B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.499G>A	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141279	0.94560	0.0	1.16E-4	ENSG00000105202	ENST00000221801	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94026	0.7297	9	0.87932	D	0	-12.565	16.4518	0.83993	0.0:1.0:0.0:0.0	.	167;106;167	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	R	167	.	ENSP00000221801:G167R	G	-	1	0	FBL	45021565	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	7.197000	0.77814	2.478000	0.83669	0.561000	0.74099	GGG		0.602	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4		NM_001436		19	70	0	0	0	7.07596e-05	0	19	70		
SPTBN4	57731	broad.mit.edu	37	19	41025918	41025918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:41025918G>A	ENST00000352632.3	+	16	3600	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E1172K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1172K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1172K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1172K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1172					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTAGACGAGTGGCTGCC	0.682																																						uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3514-3516)GAG>AAG		spectrin, beta, non-erythrocytic 4 isoform							9.0	11.0	10.0					19																	41025918		2108	4109	6217	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41025918G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3514G>A	19.37:g.41025918G>A	ENSP00000263373:p.Glu1172Lys					SPTBN4_uc002onx.2_Missense_Mutation_p.E1172K|SPTBN4_uc002onz.2_Missense_Mutation_p.E1172K|SPTBN4_uc010egx.2_5'UTR	p.E1172K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3600	+			1172			Spectrin 9.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3514G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603639	0.46423	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.50813	0.73;1.26;1.26	4.17	3.11	0.35812	.	0.201603	0.33023	U	0.005372	T	0.39911	0.1096	L	0.46157	1.445	0.80722	D	1	P;P	0.45348	0.856;0.64	B;B	0.39706	0.307;0.165	T	0.36040	-0.9764	10	0.54805	T	0.06	.	11.8217	0.52242	0.0:0.4962:0.5038:0.0	.	1172;1172	Q9H254;Q71S06	SPTN4_HUMAN;.	K	1172	ENSP00000263373:E1172K;ENSP00000340345:E1172K;ENSP00000340741:E1172K	ENSP00000340345:E1172K	E	+	1	0	SPTBN4	45717758	1.000000	0.71417	0.752000	0.31206	0.324000	0.28378	4.334000	0.59291	0.933000	0.37291	0.462000	0.41574	GAG		0.682	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				9	24	0	0	0	3.86212e-05	0	9	24		
ATP5SL	55101	broad.mit.edu	37	19	41944170	41944170	+	Silent	SNP	C	C	T	rs118187504	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:41944170C>T	ENST00000221943.9	-	2	173	c.168G>A	c.(166-168)agG>agA	p.R56R	ATP5SL_ENST00000589970.1_Silent_p.R56R|ATP5SL_ENST00000597457.1_Silent_p.R56R|ATP5SL_ENST00000301183.11_Silent_p.R62R|ATP5SL_ENST00000417807.3_Silent_p.R62R|ATP5SL_ENST00000590641.2_Silent_p.R62R|ATP5SL_ENST00000438807.3_Silent_p.R56R|ATP5SL_ENST00000592922.2_Silent_p.R56R|ATP5SL_ENST00000595425.1_Silent_p.R56R	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	56						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GCAAGTAATCCCTCAGAGCCT	0.537													C|||	8	0.00159744	0.0	0.0014	5008	,	,		21617	0.0		0.003	False		,,,				2504	0.0041					uc002oqw.1		NaN																	0				large_intestine(1)|breast(1)	2						c.(166-168)AGG>AGA		ATP5S-like		C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	194.0	170.0	178.0		186,186,168,168,168,168	2.4	0.9	19	dbSNP_132	178	19,8581	14.6+/-50.1	0,19,4281	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP5SL	NM_001167867.1,NM_001167868.1,NM_001167869.1,NM_001167870.1,NM_001167871.1,NM_018035.2	,,,,,	0,21,6482	TT,TC,CC		0.2209,0.0454,0.1615	,,,,,	62/264,62/192,56/186,56/159,56/231,56/258	41944170	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	55101							g.chr19:41944170C>T	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.168G>A	19.37:g.41944170C>T						CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Silent_p.R62R|ATP5SL_uc010xwa.1_Silent_p.R62R|ATP5SL_uc002oqx.1_Silent_p.R56R|ATP5SL_uc002oqy.1_Silent_p.R56R|ATP5SL_uc002oqz.1_Silent_p.R56R|ATP5SL_uc002ora.1_Silent_p.R43R|ATP5SL_uc010xwb.1_Silent_p.R62R	p.R56R	NM_018035	NP_060505	Q9NW81	AT5SL_HUMAN			2	174	-			56					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Silent	SNP	ENST00000221943.9	37	c.168G>A	CCDS33032.1																																																																																				0.537	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1		NM_018035		53	140	0	0	0	0.000147903	0	53	140		
CBLC	23624	broad.mit.edu	37	19	45296769	45296769	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:45296769G>A	ENST00000270279.3	+	8	1239	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	CBLC_ENST00000341505.4_Silent_p.E346E	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	392	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCCGCTGCGAGATCAAGGGCT	0.637			M		AML																																	uc002ozs.2		NaN		Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				ovary(4)|lung(1)|skin(1)	6						c.(1174-1176)GAG>GAA		Cas-Br-M (murine) ecotropic retroviral							43.0	38.0	40.0					19																	45296769		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45296769G>A	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1176G>A	19.37:g.45296769G>A						CBLC_uc010ejt.2_Silent_p.E346E	p.E392E	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN			8	1239	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	392					Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.1176G>A	CCDS12643.1																																																																																				0.637	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2		NM_012116		8	15	0	0	0	0.000442599	0	8	15		
TMEM143	55260	broad.mit.edu	37	19	48866581	48866581	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:48866581G>C	ENST00000293261.3	-	2	547	c.231C>G	c.(229-231)ttC>ttG	p.F77L	TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000436660.2_Missense_Mutation_p.F77L|TMEM143_ENST00000435956.3_Missense_Mutation_p.F77L|TMEM143_ENST00000377431.2_Missense_Mutation_p.F77L|TMEM143_ENST00000541566.1_Intron|SYNGR4_ENST00000344846.2_5'Flank	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	77					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCTCCTTGGAGAAGGGAATGA	0.652																																						uc002pix.1		NaN																	0					0						c.(229-231)TTC>TTG		transmembrane protein 143							33.0	39.0	37.0					19																	48866581		2203	4299	6502	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48866581G>C	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.231C>G	19.37:g.48866581G>C	ENSP00000293261:p.Phe77Leu					TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Missense_Mutation_p.F77L|TMEM143_uc010xzn.1_Missense_Mutation_p.F77L|TMEM143_uc010elw.1_Missense_Mutation_p.F77L|TMEM143_uc010xzo.1_Intron|TMEM143_uc010xzp.1_Missense_Mutation_p.F77L|TMEM143_uc010xzq.1_Missense_Mutation_p.F77L|SYNGR4_uc002piz.2_5'Flank	p.F77L	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	2	240	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	77					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.231C>G	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695003	0.30052	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660	T;T	0.53640	0.95;0.61	5.46	4.43	0.53597	.	0.252750	0.34676	N	0.003778	T	0.25938	0.0632	N	0.11560	0.145	0.29928	N	0.822189	B;B;B;B;B	0.24963	0.04;0.105;0.0;0.115;0.057	B;B;B;B;B	0.29862	0.043;0.108;0.0;0.039;0.023	T	0.22626	-1.0211	10	0.12103	T	0.63	-17.8542	8.5896	0.33679	0.1744:0.0:0.8256:0.0	.	77;77;77;77;77	B4DG49;B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;.;TM143_HUMAN	L	77	ENSP00000293261:F77L;ENSP00000397038:F77L	ENSP00000293261:F77L	F	-	3	2	TMEM143	53558393	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.871000	0.48459	1.467000	0.48044	0.561000	0.74099	TTC		0.652	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1		NM_018273		4	44	0	0	0	0.00024832	0	4	44		
PLEKHA4	57664	broad.mit.edu	37	19	49362856	49362856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:49362856C>T	ENST00000263265.6	-	7	1117	c.562G>A	c.(562-564)Gag>Aag	p.E188K	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.E188K|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	188	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ATGCGCCCCTCTTCCCCTCTG	0.677																																						uc002pkx.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(562-564)GAG>AAG		pleckstrin homology domain containing family A							55.0	44.0	48.0					19																	49362856		2203	4300	6503	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362856C>T	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.562G>A	19.37:g.49362856C>T	ENSP00000263265:p.Glu188Lys					PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.E188K	p.E188K	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1113	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	188			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.562G>A	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794218	0.70452	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.14516	3.05;2.5	4.7	3.66	0.41972	.	0.368803	0.25200	N	0.032388	T	0.09247	0.0228	N	0.24115	0.695	0.28578	N	0.910267	P;P	0.43633	0.745;0.813	B;B	0.42282	0.382;0.223	T	0.12372	-1.0550	10	0.20046	T	0.44	.	8.6924	0.34275	0.0:0.8967:0.0:0.1033	.	188;188	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	K	188	ENSP00000263265:E188K;ENSP00000347683:E188K	ENSP00000263265:E188K	E	-	1	0	PLEKHA4	54054668	0.942000	0.31987	0.775000	0.31657	0.818000	0.46254	2.043000	0.41231	1.354000	0.45846	0.462000	0.41574	GAG		0.677	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1				5	34	0	0	0	3.59834e-05	0	5	34		
NR1H2	7376	broad.mit.edu	37	19	50881040	50881040	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:50881040G>A	ENST00000253727.5	+	4	329	c.94G>A	c.(94-96)Gag>Aag	p.E32K	NR1H2_ENST00000593926.1_Missense_Mutation_p.E32K|NR1H2_ENST00000599105.1_Missense_Mutation_p.E32K|NR1H2_ENST00000598168.1_Missense_Mutation_p.E32K|NR1H2_ENST00000411902.2_Missense_Mutation_p.E32K|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	32					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CACTGTAAAGGAGGAGGGTCC	0.647																																						uc010enw.2		NaN																	0					0						c.(94-96)GAG>AAG		nuclear receptor subfamily 1, group H, member 2							42.0	45.0	44.0					19																	50881040		1844	4094	5938	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881040G>A	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.94G>A	19.37:g.50881040G>A	ENSP00000253727:p.Glu32Lys					NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.E32K|NR1H2_uc002psa.3_Missense_Mutation_p.E32K	p.E32K	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	370	+		all_neural(266;0.057)	32					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.94G>A	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041985	0.55003	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	T;T	0.45276	0.9;0.9	4.25	0.867	0.19085	.	0.709428	0.12216	N	0.488873	T	0.22666	0.0547	N	0.24115	0.695	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09997	-1.0649	10	0.17369	T	0.5	.	4.3619	0.11206	0.2068:0.1873:0.6059:0.0	.	32;32;32	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	K	32	ENSP00000253727:E32K;ENSP00000396151:E32K	ENSP00000253727:E32K	E	+	1	0	NR1H2	55572852	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.236000	0.32683	0.304000	0.22809	0.561000	0.74099	GAG		0.647	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2				10	51	0	0	0	3.86212e-05	0	10	51		
ZNF611	81856	broad.mit.edu	37	19	53209076	53209076	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:53209076G>C	ENST00000319783.1	-	7	1548	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	ZNF611_ENST00000540744.1_Nonsense_Mutation_p.S411*|ZNF611_ENST00000602162.1_Nonsense_Mutation_p.S342*|ZNF611_ENST00000595798.1_Nonsense_Mutation_p.S342*|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Nonsense_Mutation_p.S411*|ZNF611_ENST00000453741.2_Nonsense_Mutation_p.S342*	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGCCAGCTGTGAATGCCACGT	0.403																																						uc002pzz.2		NaN																	0				ovary(1)	1						c.(1231-1233)TCA>TGA		zinc finger protein 611 isoform a							91.0	88.0	89.0					19																	53209076		2203	4300	6503	SO:0001587	stop_gained	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209076G>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1232C>G	19.37:g.53209076G>C	ENSP00000322427:p.Ser411*					ZNF611_uc010eqc.2_Nonsense_Mutation_p.S341*|ZNF611_uc010ydo.1_Nonsense_Mutation_p.S341*|ZNF611_uc010ydr.1_Nonsense_Mutation_p.S342*|ZNF611_uc010ydp.1_Nonsense_Mutation_p.S411*|ZNF611_uc010ydq.1_Nonsense_Mutation_p.S411*|ZNF611_uc002qaa.3_Nonsense_Mutation_p.S341*	p.S411*	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1549	-			411			C2H2-type 7.		B3KRD5|Q69YG9	Nonsense_Mutation	SNP	ENST00000319783.1	37	c.1232C>G	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.142713	0.77888	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	.	.	.	1.34	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.5139	0.22236	0.0:0.0:0.7144:0.2856	.	.	.	.	X	411;411;342;411	.	ENSP00000322427:S411X	S	-	2	0	ZNF611	57900888	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-2.110000	0.01334	0.732000	0.32470	0.194000	0.17425	TCA		0.403	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1		NM_030972		52	82	0	0	0	0.000147903	0	52	82		
CACNG8	59283	broad.mit.edu	37	19	54485522	54485522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:54485522G>C	ENST00000270458.2	+	4	800	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	233					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGCAGCCGCGAGGCGCACTG	0.687																																						uc002qcs.1		NaN																	0					0						c.(694-696)GAG>CAG		voltage-dependent calcium channel gamma-8							28.0	22.0	24.0					19																	54485522		2195	4295	6490	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54485522G>C	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.697G>C	19.37:g.54485522G>C	ENSP00000270458:p.Glu233Gln					MIR935_hsa-mir-935|MI0005757_5'Flank	p.E232Q	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	4	800	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		233					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.694G>C	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.772882	0.49680	.	.	ENSG00000142408	ENST00000270458	T	0.48836	0.8	1.82	1.82	0.25136	.	0.077548	0.49305	U	0.000149	T	0.47948	0.1473	L	0.28054	0.825	0.31938	N	0.611278	D	0.76494	0.999	D	0.69307	0.963	T	0.55341	-0.8156	9	0.29301	T	0.29	.	9.2411	0.37498	0.0:0.0:1.0:0.0	.	233	Q8WXS5	CCG8_HUMAN	Q	233	ENSP00000270458:E233Q	ENSP00000270458:E233Q	E	+	1	0	CACNG8	59177334	0.980000	0.34600	1.000000	0.80357	0.985000	0.73830	1.468000	0.35332	0.998000	0.38996	0.281000	0.19383	GAG		0.687	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3				4	6	0	0	0	0.000602214	0	4	6		
PKDCC	91461	broad.mit.edu	37	2	42282449	42282449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:42282449G>C	ENST00000294964.5	+	5	1318	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	PKDCC_ENST00000480099.1_Intron	NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GGGGGTGGACGAGACCCTGGC	0.647																																						uc002rsg.2		NaN																	0				breast(1)	1						c.(1138-1140)GAG>CAG		protein kinase-like protein SgK493							43.0	39.0	40.0					2																	42282449		2203	4299	6502	SO:0001583	missense	91461				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity	g.chr2:42282449G>C		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.1138G>C	2.37:g.42282449G>C	ENSP00000294964:p.Glu380Gln						p.E380Q	NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN			5	1317	+			380			Protein kinase.			Missense_Mutation	SNP	ENST00000294964.5	37	c.1138G>C	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220314	0.79464	.	.	ENSG00000162878	ENST00000294964	.	.	.	4.84	4.84	0.62591	Protein kinase, catalytic domain (1);	0.050306	0.85682	D	0.000000	T	0.60586	0.2280	L	0.45137	1.4	0.58432	D	0.999999	D	0.53885	0.963	P	0.51170	0.661	T	0.60791	-0.7193	9	0.40728	T	0.16	-20.8734	16.9677	0.86290	0.0:0.0:1.0:0.0	.	380	Q504Y2	PKDCC_HUMAN	Q	380	.	ENSP00000294964:E380Q	E	+	1	0	PKDCC	42135953	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.817000	0.86213	2.402000	0.81655	0.555000	0.69702	GAG		0.647	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3				9	43	0	0	0	0.000442599	0	9	43		
INPP4A	3631	broad.mit.edu	37	2	99182196	99182196	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:99182196C>G	ENST00000523221.1	+	19	2261	c.2261C>G	c.(2260-2262)tCc>tGc	p.S754C	INPP4A_ENST00000409016.4_Missense_Mutation_p.S715C|INPP4A_ENST00000074304.5_Missense_Mutation_p.S754C|INPP4A_ENST00000409851.3_Missense_Mutation_p.S749C|INPP4A_ENST00000409463.1_Missense_Mutation_p.S83C|INPP4A_ENST00000409540.3_Missense_Mutation_p.S715C|INPP4A_ENST00000545415.1_Missense_Mutation_p.S715C			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	754					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TCCAGCGCCTCCGCAGACATG	0.517																																						uc002syy.2		NaN																	0				kidney(1)	1						c.(2260-2262)TCC>TGC		inositol polyphosphate-4-phosphatase, type 1							73.0	80.0	78.0					2																	99182196		2071	4219	6290	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99182196C>G	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2261C>G	2.37:g.99182196C>G	ENSP00000427722:p.Ser754Cys					INPP4A_uc010yvj.1_Missense_Mutation_p.S715C|INPP4A_uc010yvk.1_Missense_Mutation_p.S715C|INPP4A_uc002syx.2_Missense_Mutation_p.S749C|INPP4A_uc010fik.2_Missense_Mutation_p.S83C	p.S754C	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			21	2654	+			754					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.2261C>G	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255925	0.39896	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.46819	2.21;2.21;0.86;2.21;2.21;2.21;2.21	5.25	5.25	0.73442	.	0.203660	0.44097	D	0.000481	T	0.51143	0.1657	L	0.28115	0.83	0.23180	N	0.998168	P;D;B;D;D	0.64830	0.921;0.994;0.321;0.97;0.97	P;P;B;P;P	0.56127	0.639;0.711;0.132;0.792;0.792	T	0.46442	-0.9191	10	0.44086	T	0.13	-4.7297	18.0234	0.89261	0.0:1.0:0.0:0.0	.	715;715;83;754;749	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	C	715;749;83;754;715;715;754	ENSP00000386704:S715C;ENSP00000386777:S749C;ENSP00000386329:S83C;ENSP00000074304:S754C;ENSP00000442149:S715C;ENSP00000387294:S715C;ENSP00000427722:S754C	ENSP00000074304:S754C	S	+	2	0	INPP4A	98548628	0.985000	0.35326	0.030000	0.17652	0.114000	0.19823	3.666000	0.54540	2.744000	0.94065	0.563000	0.77884	TCC		0.517	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1		NM_001566		35	57	0	0	0	0.000319135	0	35	57		
RABL2A	11159	broad.mit.edu	37	2	114399705	114399705	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:114399705G>A	ENST00000393167.3	+	9	911	c.686G>A	c.(685-687)tGa>tAa	p.*229*	RABL2A_ENST00000393166.3_Silent_p.*229*|RABL2A_ENST00000409842.1_Silent_p.*166*|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409875.1_Silent_p.*239*|RABL2A_ENST00000393165.3_Silent_p.*230*|RABL2A_ENST00000376439.3_Silent_p.*166*	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	0					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CCCCACAGCTGAGGGGCTGGG	0.572																																						uc002tkn.3		NaN																	0				skin(1)	1						c.(685-687)TGA>TAA		RAB, member of RAS oncogene family-like 2A							50.0	49.0	50.0					2																	114399705		2200	4299	6499	SO:0001819	synonymous_variant	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114399705G>A		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.686G>A	2.37:g.114399705G>A						RABL2A_uc010flb.2_Silent_p.*229*|RABL2A_uc002tkl.3_Silent_p.*148*|RABL2A_uc002tkm.3_Silent_p.*166*|RABL2A_uc002tks.3_Silent_p.*230*|RABL2A_uc002tkr.2_Silent_p.*230*|RABL2A_uc002tkp.3_Intron	p.*229*	NM_007082	NP_009013	Q9UBK7	RBL2A_HUMAN			9	900	+			229					B7ZBD6|Q9NU37	Silent	SNP	ENST00000393167.3	37	c.686G>A	CCDS2118.1																																																																																				0.572	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2				12	41	0	0	0	0.00010058	0	12	41		
RALB	5899	broad.mit.edu	37	2	121043653	121043653	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:121043653A>G	ENST00000272519.5	+	3	588	c.318A>G	c.(316-318)gaA>gaG	p.E106E	RALB_ENST00000474855.2_Silent_p.E128E|RALB_ENST00000404963.3_Silent_p.E127E|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Silent_p.E106E	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	106					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CAACTGCCGAATTCAGGTATG	0.438																																						uc002tmk.2		NaN																	0				lung(3)	3						c.(316-318)GAA>GAG		v-ral simian leukemia viral oncogene homolog B							82.0	79.0	80.0					2																	121043653		2203	4300	6503	SO:0001819	synonymous_variant	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121043653A>G		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.318A>G	2.37:g.121043653A>G						RALB_uc010yys.1_Silent_p.E128E|RALB_uc002tml.2_Silent_p.E127E|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_Intron	p.E106E	NM_002881	NP_002872	P11234	RALB_HUMAN			3	508	+		Prostate(154;0.122)	106					B4E040|Q53T32|Q6ZS74	Silent	SNP	ENST00000272519.5	37	c.318A>G	CCDS2131.1																																																																																				0.438	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3		NM_002881		3	79	0	0	0	6.4e-05	0	3	79		
NCKAP5	344148	broad.mit.edu	37	2	133543046	133543046	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:133543046G>C	ENST00000409261.1	-	14	1711	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	NCKAP5_ENST00000317721.6_Silent_p.L446L|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	446										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATACTCCTTGAGGCTGCTAC	0.458																																						uc002ttp.2		NaN																	0					0						c.(1336-1338)CTC>CTG		Nck-associated protein 5 isoform 1							59.0	56.0	57.0					2																	133543046		1847	4090	5937	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133543046G>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1338C>G	2.37:g.133543046G>C						NCKAP5_uc002ttq.2_Intron	p.L446L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	1712	-			446					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1338C>G	CCDS46418.1																																																																																				0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		14	44	0	0	0	0.000151284	0	14	44		
GPD2	2820	broad.mit.edu	37	2	157406241	157406241	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:157406241G>A	ENST00000310454.6	+	7	1155	c.783G>A	c.(781-783)ggG>ggA	p.G261G	GPD2_ENST00000409674.1_Silent_p.G261G|GPD2_ENST00000540309.1_Silent_p.G261G|GPD2_ENST00000409125.4_Silent_p.G34G|GPD2_ENST00000438166.2_Silent_p.G261G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	261					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CCCAGACAGGGAAAGTGCGTG	0.522																																						uc002tzf.3		NaN																	0				ovary(1)	1						c.(781-783)GGG>GGA		glycerol-3-phosphate dehydrogenase 2,							68.0	65.0	66.0					2																	157406241		2203	4300	6503	SO:0001819	synonymous_variant	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157406241G>A		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.783G>A	2.37:g.157406241G>A						GPD2_uc010zch.1_Silent_p.G34G|GPD2_uc002tzd.3_Silent_p.G261G|GPD2_uc002tze.1_RNA	p.G261G	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			7	1143	+			261					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	c.783G>A	CCDS2202.1																																																																																				0.522	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3				7	18	0	0	0	0.000157383	0	7	18		
SCN3A	6328	broad.mit.edu	37	2	165952024	165952024	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:165952024C>G	ENST00000360093.3	-	25	4919	c.4428G>C	c.(4426-4428)aaG>aaC	p.K1476N	SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.K1427N|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1476N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1476					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTATCTTCTTTTTCTGCT	0.338																																						uc002ucx.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4426-4428)AAG>AAC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						94.0	93.0	94.0					2																	165952024		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952024C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4428G>C	2.37:g.165952024C>G	ENSP00000353206:p.Lys1476Asn					SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.K1427N|SCN3A_uc002ucz.2_Missense_Mutation_p.K1427N	p.K1476N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			25	4920	-			1476					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4428G>C		.	.	.	.	.	.	.	.	.	.	C	15.56	2.870441	0.51588	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96619	-4.07;-4.07;-4.01	5.25	4.38	0.52667	.	0.060430	0.64402	D	0.000011	D	0.98018	0.9347	M	0.85099	2.735	0.80722	D	1	D;P;B	0.76494	0.999;0.575;0.012	D;B;B	0.80764	0.994;0.156;0.027	D	0.98917	1.0782	10	0.87932	D	0	.	14.0336	0.64632	0.0:0.9276:0.0:0.0724	.	1427;1427;1476	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	N	1476;1476;1427	ENSP00000353206:K1476N;ENSP00000283254:K1476N;ENSP00000386726:K1427N	ENSP00000283254:K1476N	K	-	3	2	SCN3A	165660270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.417000	0.34770	1.579000	0.49836	0.591000	0.81541	AAG		0.338	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		13	53	0	0	0	0.000151284	0	13	53		
NAB1	4664	broad.mit.edu	37	2	191524441	191524441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:191524441C>T	ENST00000337386.5	+	4	1000	c.539C>T	c.(538-540)tCc>tTc	p.S180F	NAB1_ENST00000545490.1_5'Flank|NAB1_ENST00000357215.5_Missense_Mutation_p.S180F|NAB1_ENST00000409641.1_Missense_Mutation_p.S180F|NAB1_ENST00000409581.1_Missense_Mutation_p.S180F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	180					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GACCTGGGCTCCCCCGCGTCC	0.632																																						uc002usb.2		NaN																	0					0						c.(538-540)TCC>TTC		NGFI-A binding protein 1							33.0	35.0	35.0					2																	191524441		2203	4300	6503	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191524441C>T		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.539C>T	2.37:g.191524441C>T	ENSP00000336894:p.Ser180Phe					NAB1_uc010fsc.2_Missense_Mutation_p.S180F|NAB1_uc010fsd.2_Missense_Mutation_p.S180F|NAB1_uc002usc.2_Missense_Mutation_p.S180F|NAB1_uc010zgh.1_Missense_Mutation_p.S180F	p.S180F	NM_005966	NP_005957	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		4	1111	+			180					O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.539C>T	CCDS2307.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820215	0.90873	.	.	ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641	.	.	.	5.51	5.51	0.81932	NAB co-repressor, domain (1);	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.80764	0.994;0.981;0.96	T	0.78760	-0.2078	9	0.87932	D	0	-16.3082	18.5908	0.91212	0.0:1.0:0.0:0.0	.	180;180;180	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	F	180	.	ENSP00000336894:S180F	S	+	2	0	NAB1	191232686	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.181000	0.77682	2.873000	0.98535	0.561000	0.74099	TCC		0.632	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1		NM_005966		6	13	0	0	0	3.59834e-05	0	6	13		
CXCR1	3577	broad.mit.edu	37	2	219029263	219029263	+	Silent	SNP	G	G	A	rs199972612		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:219029263G>A	ENST00000295683.2	-	2	792	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	224					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TACGCAGGGTGAATCCATAGC	0.542																																						uc002vhc.2		NaN																	0				lung(2)	2						c.(670-672)TTC>TTT		interleukin 8 receptor alpha							142.0	129.0	134.0					2																	219029263		2203	4300	6503	SO:0001819	synonymous_variant	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029263G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.672C>T	2.37:g.219029263G>A							p.F224F	NM_000634	NP_000625	P25024	CXCR1_HUMAN			2	791	-			224			Cytoplasmic (Potential).		B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	c.672C>T	CCDS2409.1																																																																																				0.542	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2		NM_000634		29	98	0	0	0	0.000147802	0	29	98		
PSMD1	5707	broad.mit.edu	37	2	231947596	231947596	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:231947596G>C	ENST00000308696.6	+	13	1575		c.e13-1		PSMD1_ENST00000409643.1_Splice_Site|PSMD1_ENST00000373635.4_Splice_Site	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTTTTCCTTAGATCGTTAGAC	0.368																																						uc002vrn.1		NaN																	0				ovary(1)|skin(1)	2						c.e13-1		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						106.0	100.0	102.0					2																	231947596		2203	4300	6503	SO:0001630	splice_region_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231947596G>C	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1414-1G>C	2.37:g.231947596G>C						PSMD1_uc002vrm.1_Splice_Site_p.I472_splice|PSMD1_uc010fxu.1_Splice_Site_p.I336_splice	p.I472_splice	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	13	1545	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)						B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Splice_Site	SNP	ENST00000308696.6	37	c.1414_splice	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750551	0.49257	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMD1	231655840	1.000000	0.71417	0.997000	0.53966	0.298000	0.27526	9.727000	0.98787	2.832000	0.97577	0.655000	0.94253	.		0.368	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			Intron	13	43	0	0	0	0.000308642	0	13	43		
UGT1A6	54578	broad.mit.edu	37	2	234652280	234652280	+	Intron	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:234652280C>T	ENST00000305139.6	+	2	1000				UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCGGCTGGGTCGCGGAAGCTG	0.627																																						uc002vuz.2		NaN																	0					0						c.(283-285)GAC>AAC		DnaJ (Hsp40) homolog, subfamily B, member 3							55.0	66.0	62.0					2																	234652280		1901	4111	6012	SO:0001627	intron_variant	414061				protein folding		heat shock protein binding|unfolded protein binding	g.chr2:234652280C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23400C>T	2.37:g.234652280C>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	p.D95N	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN			1	382	-			95					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.283G>A	CCDS2507.1																																																																																				0.627	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1		NM_205862		17	56	0	0	0	0.000132079	0	17	56		
RBM44	375316	broad.mit.edu	37	2	238726844	238726844	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:238726844A>G	ENST00000409864.1	+	3	1539	c.1285A>G	c.(1285-1287)Acg>Gcg	p.T429A	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.T429A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	428						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAAGATAATACGTCCCTAAA	0.373																																						uc002vxi.3		NaN																	0				ovary(4)	4						c.(1285-1287)ACG>GCG		RNA binding motif protein 44							54.0	50.0	51.0					2																	238726844		1911	4116	6027	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726844A>G	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1285A>G	2.37:g.238726844A>G	ENSP00000386727:p.Thr429Ala						p.T429A	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1417	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	428					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1285A>G	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	A	0.432	-0.903035	0.02453	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.21543	2.0;2.0	5.73	-4.77	0.03219	.	0.862695	0.10127	N	0.712526	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.38329	-0.9666	10	0.06757	T	0.87	0.7887	2.7842	0.05369	0.4435:0.115:0.3299:0.1116	.	428	Q6ZP01	RBM44_HUMAN	A	429	ENSP00000321179:T429A;ENSP00000386727:T429A	ENSP00000321179:T429A	T	+	1	0	RBM44	238391583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.606000	0.05654	-0.780000	0.04553	0.402000	0.26972	ACG		0.373	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2		NM_001080504		14	38	0	0	0	0.000219431	0	14	38		
SOX12	6666	broad.mit.edu	37	20	306839	306839	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:306839C>T	ENST00000342665.2	+	1	601	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.R91W|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	91					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCCGTTCGTGCGGGAGGCGGA	0.677																																						uc002wdh.2		NaN																	0					0						c.(271-273)CGG>TGG		SRY (sex determining region Y)-box 12							18.0	19.0	19.0					20																	306839		2202	4295	6497	SO:0001583	missense	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306839C>T	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.271C>T	20.37:g.306839C>T	ENSP00000347646:p.Arg91Trp						p.R91W	NM_006943	NP_008874	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	601	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	91			HMG box.		Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	c.271C>T	CCDS12995.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199074	0.38806	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.94046	-3.34;-3.34	3.63	2.67	0.31697	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.138595	0.28583	U	0.014823	D	0.91808	0.7408	M	0.86651	2.83	0.41986	D	0.990825	B	0.21753	0.06	B	0.15484	0.013	D	0.88243	0.2911	10	0.87932	D	0	.	4.3393	0.11101	0.2223:0.6552:0.0:0.1225	.	91	O15370	SOX12_HUMAN	W	91	ENSP00000441671:R91W;ENSP00000347646:R91W	ENSP00000347646:R91W	R	+	1	2	SOX12	254839	0.002000	0.14202	1.000000	0.80357	0.383000	0.30230	-0.931000	0.03967	0.719000	0.32188	0.313000	0.20887	CGG		0.677	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2		NM_006943		6	30	0	0	0	3.59834e-05	0	6	30		
IDH3B	3420	broad.mit.edu	37	20	2640192	2640192	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:2640192C>T	ENST00000380843.4	-	11	1080	c.1050G>A	c.(1048-1050)aaG>aaA	p.K350K	IDH3B_ENST00000488299.1_5'UTR|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000380851.5_Silent_p.K350K|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	350					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TGATCACCTTCTTCACCGCAT	0.507																																						uc002wgp.2		NaN																	0					0						c.(1048-1050)AAG>AAA		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						366.0	334.0	345.0					20																	2640192		2203	4300	6503	SO:0001819	synonymous_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2640192C>T		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1050G>A	20.37:g.2640192C>T						IDH3B_uc002wgq.2_Silent_p.K350K|IDH3B_uc002wgr.2_Silent_p.K198K	p.K350K	NM_006899	NP_008830	O43837	IDH3B_HUMAN			11	1059	-			350					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	ENST00000380843.4	37	c.1050G>A	CCDS13032.1																																																																																				0.507	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1				64	367	0	0	0	0.000147903	0	64	367		
PROKR2	128674	broad.mit.edu	37	20	5282740	5282740	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:5282740G>C	ENST00000217270.3	-	2	1100	c.1101C>G	c.(1099-1101)ctC>ctG	p.L367L	PROKR2_ENST00000546004.1_Silent_p.L367L	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	367					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTTGGTTCTGAGGTCAAGGT	0.547										HNSCC(71;0.22)																												uc010zqw.1		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1099-1101)CTC>CTG		prokineticin receptor 2							156.0	130.0	139.0					20																	5282740		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282740G>C	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1101C>G	20.37:g.5282740G>C		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.L367L|PROKR2_uc010zqy.1_Silent_p.L367L	p.L367L	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	1101	-			367			Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.1101C>G	CCDS13089.1																																																																																				0.547	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1		NM_144773		11	56	0	0	0	0.00010058	0	11	56		
ACTL10	170487	broad.mit.edu	37	20	32255546	32255546	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:32255546G>A	ENST00000330271.4	+	1	1243	c.243G>A	c.(241-243)aaG>aaA	p.K81K	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	81																	CACATCTCAAGAAGCGCAGCT	0.672																																						uc002wzt.2		NaN																	0				pancreas(1)	1						c.(241-243)AAG>AAA		hypothetical protein LOC170487							45.0	41.0	42.0					20																	32255546		2197	4294	6491	SO:0001819	synonymous_variant	170487							g.chr20:32255546G>A	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.243G>A	20.37:g.32255546G>A						NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron	p.K81K	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN			1	1243	+			81					B9EH76	Silent	SNP	ENST00000330271.4	37	c.243G>A	CCDS33463.1																																																																																				0.672	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1				6	32	0	0	0	0.000274275	0	6	32		
CEP250	11190	broad.mit.edu	37	20	34092575	34092576	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:34092575_34092576CC>AA	ENST00000397527.1	+	30	7098_7099	c.6378_6379CC>AA	c.(6376-6381)ccCCac>ccAAac	p.H2127N	CEP250_ENST00000342580.4_Missense_Mutation_p.H2071N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2127	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCCTTACCCCACAGCCACAA	0.54																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(6376-6381)CCCCAC>CCAAAC		centrosomal protein 2																																				SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34092575_34092576CC>AA	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	Exception_encountered	20.37:g.34092575_34092576delinsAA	ENSP00000380661:p.His2127Asn					CEP250_uc010zve.1_Missense_Mutation_p.H1495N	p.H2127N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	7049_7050	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2127			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	DNP	ENST00000397527.1	37	c.6378_6379CC>AA	CCDS13255.1																																																																																				0.540	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		7	101	0	0	0	6.4e-05	0	7	101		
ACOT8	10005	broad.mit.edu	37	20	44483824	44483824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:44483824G>A	ENST00000217455.4	-	2	326	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ZSWIM3_ENST00000255152.2_5'Flank|ZSWIM3_ENST00000454862.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	79					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GCAGTGCAGGGAGTGCACGTG	0.617																																						uc002xqa.1		NaN																	0				skin(1)	1						c.(235-237)TCC>TTC		peroxisomal acyl-CoA thioesterase 1 isoform a							91.0	87.0	88.0					20																	44483824		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44483824G>A	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.236C>T	20.37:g.44483824G>A	ENSP00000217455:p.Ser79Phe					ACOT8_uc010zxe.1_Missense_Mutation_p.S79F|ACOT8_uc002xqc.1_Intron|ACOT8_uc010zxf.1_Intron|ZSWIM3_uc002xqd.2_5'Flank|ZSWIM3_uc010zxg.1_5'Flank	p.S79F	NM_005469	NP_005460	O14734	ACOT8_HUMAN			2	317	-		Myeloproliferative disorder(115;0.0122)	79					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.236C>T	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.904858|4.904858	0.92035|0.92035	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000487205|ENST00000217455;ENST00000426915;ENST00000372531	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91050|0.91050	0.7184|0.7184	H|H	0.98818|0.98818	4.34|4.34	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.94636|0.94636	0.7826|0.7826	5|9	.|0.87932	.|D	.|0	.|.	18.4349|18.4349	0.90642|0.90642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|79;79	.|B4DLF4;O14734	.|.;ACOT8_HUMAN	S|F	34|79;77;79	.|.	.|ENSP00000217455:S79F	P|S	-|-	1|2	0|0	ACOT8|ACOT8	43917231|43917231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.106000|9.106000	0.94253|0.94253	2.588000|2.588000	0.87417|0.87417	0.561000|0.561000	0.74099|0.74099	CCC|TCC		0.617	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2		NM_183386		53	41	0	0	0	0.000147903	0	53	41		
SLC12A5	57468	broad.mit.edu	37	20	44676624	44676624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:44676624G>A	ENST00000454036.2	+	16	2030	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E638K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	661					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCAGGGCAGAGAAGGAGTG	0.617																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1981-1983)GAG>AAG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						55.0	47.0	49.0					20																	44676624		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44676624G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1981G>A	20.37:g.44676624G>A	ENSP00000387694:p.Glu661Lys					SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E638K	p.E661K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			16	2057	+		Myeloproliferative disorder(115;0.0122)	661					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1981G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465462	0.63513	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98747	-5.11;-5.11	3.92	3.92	0.45320	Amino acid permease domain (1);	0.195801	0.42821	D	0.000654	D	0.96741	0.8936	L	0.31294	0.92	0.80722	D	1	P;B	0.41041	0.736;0.313	P;B	0.44673	0.457;0.177	D	0.96338	0.9249	10	0.34782	T	0.22	.	14.669	0.68929	0.0:0.0:1.0:0.0	.	661;638	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	K	661;638	ENSP00000387694:E661K;ENSP00000243964:E638K	ENSP00000243964:E638K	E	+	1	0	SLC12A5	44110031	1.000000	0.71417	0.989000	0.46669	0.363000	0.29612	9.579000	0.98204	1.992000	0.58205	0.455000	0.32223	GAG		0.617	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				8	8	0	0	0	0.000157383	0	8	8		
HELZ2	85441	broad.mit.edu	37	20	62196310	62196310	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196310C>G	ENST00000467148.1	-	8	3934	c.3865G>C	c.(3865-3867)Gag>Cag	p.E1289Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.E720Q	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1289					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGCTGGCCTCAGGCAGCACC	0.672																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(3865-3867)GAG>CAG		PPAR-alpha interacting complex protein 285							18.0	20.0	19.0					20																	62196310		2183	4292	6475	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196310C>G	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3865G>C	20.37:g.62196310C>G	ENSP00000417401:p.Glu1289Gln					PRIC285_uc002yfl.1_Missense_Mutation_p.E720Q	p.E1289Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4757	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1289					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3865G>C	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	4.094	0.015483	0.07959	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.29917	1.55;1.55	4.54	-0.162	0.13367	.	1.070250	0.07197	N	0.856723	T	0.17959	0.0431	L	0.27053	0.805	0.09310	N	1	B;B	0.18741	0.018;0.03	B;B	0.13407	0.004;0.009	T	0.31447	-0.9943	10	0.15952	T	0.53	-16.4366	5.2421	0.15477	0.1275:0.454:0.3334:0.0851	.	1289;720	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	Q	720;1289	ENSP00000393257:E720Q;ENSP00000417401:E1289Q	ENSP00000393257:E720Q	E	-	1	0	RP4-697K14.7	61666754	0.000000	0.05858	0.333000	0.25482	0.779000	0.44077	0.895000	0.28363	0.337000	0.23665	0.491000	0.48974	GAG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		14	14	0	0	0	0.000219431	0	14	14		
HELZ2	85441	broad.mit.edu	37	20	62196796	62196796	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196796C>T	ENST00000467148.1	-	8	3448	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E558K	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1127					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGGTACCGCTCGGGCTCCGCG	0.706																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(3379-3381)GAG>AAG		PPAR-alpha interacting complex protein 285							12.0	14.0	13.0					20																	62196796		2160	4247	6407	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196796C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3379G>A	20.37:g.62196796C>T	ENSP00000417401:p.Glu1127Lys					PRIC285_uc002yfl.1_Missense_Mutation_p.E558K	p.E1127K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4271	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1127					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3379G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	4.358	0.065854	0.08388	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.21191	2.02;2.02	4.65	-6.97	0.01616	.	1.166630	0.06197	N	0.682455	T	0.08044	0.0201	N	0.16903	0.455	0.09310	N	1	B;B	0.16396	0.017;0.003	B;B	0.09377	0.001;0.004	T	0.38650	-0.9651	10	0.02654	T	1	-4.1791	5.6592	0.17660	0.103:0.1072:0.5537:0.2361	.	1127;558	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	K	558;1127	ENSP00000393257:E558K;ENSP00000417401:E1127K	ENSP00000393257:E558K	E	-	1	0	RP4-697K14.7	61667240	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.153000	0.03169	-1.104000	0.03015	0.313000	0.20887	GAG		0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		7	9	0	0	0	6.40141e-05	0	7	9		
HELZ2	85441	broad.mit.edu	37	20	62196802	62196802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196802C>T	ENST00000467148.1	-	8	3442	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E556K	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1125					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGCTCGGGCTCCGCGTGCAGC	0.701																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(3373-3375)GAG>AAG		PPAR-alpha interacting complex protein 285							12.0	14.0	13.0					20																	62196802		2166	4263	6429	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196802C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3373G>A	20.37:g.62196802C>T	ENSP00000417401:p.Glu1125Lys					PRIC285_uc002yfl.1_Missense_Mutation_p.E556K	p.E1125K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4265	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1125					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3373G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488480	0.26686	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79940	-1.32;-1.21	4.65	1.31	0.21738	.	1.035320	0.07610	N	0.925154	T	0.65933	0.2739	L	0.44542	1.39	0.09310	N	1	B;P	0.38195	0.358;0.622	B;B	0.29862	0.05;0.108	T	0.50466	-0.8825	10	0.11794	T	0.64	-9.2036	4.9582	0.14052	0.1121:0.3011:0.4909:0.0958	.	1125;556	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	K	556;1125	ENSP00000393257:E556K;ENSP00000417401:E1125K	ENSP00000393257:E556K	E	-	1	0	RP4-697K14.7	61667246	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.387000	0.20718	0.365000	0.24400	0.313000	0.20887	GAG		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		7	9	0	0	0	6.40141e-05	0	7	9		
NRIP1	8204	broad.mit.edu	37	21	16338775	16338776	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:16338775_16338776GG>TT	ENST00000400202.1	-	3	2450_2451	c.1738_1739CC>AA	c.(1738-1740)CCa>AAa	p.P580K	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.P580K|NRIP1_ENST00000400199.1_Missense_Mutation_p.P580K			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	580	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GACATATGGTGGGGAATTCCAT	0.45																																						uc002yjx.2		NaN																	0					0						c.(1738-1740)CCA>AAA		nuclear receptor interacting protein 1																																				SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338775_16338776GG>TT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1738_1739delinsTT	21.37:g.16338775_16338776delinsTT	ENSP00000383063:p.Pro580Lys						p.P580K	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	2336_2337	-			580			Repression domain 2.		Q8IWE8	Missense_Mutation	DNP	ENST00000400202.1	37	c.1738_1739CC>AA	CCDS13568.1																																																																																				0.450	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		14	402	0	0	0	6.4e-05	0	14	402		
KRTAP13-1	140258	broad.mit.edu	37	21	31768675	31768675	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:31768675C>G	ENST00000355459.2	+	1	284	c.271C>G	c.(271-273)Ccc>Gcc	p.P91A		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	91	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCTGCAGTCCCTGCCAGAC	0.617																																						uc002yoa.2		NaN																	0				ovary(1)	1						c.(271-273)CCC>GCC		keratin associated protein 13-1							69.0	68.0	69.0					21																	31768675		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768675C>G	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.271C>G	21.37:g.31768675C>G	ENSP00000347635:p.Pro91Ala						p.P91A	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	284	+			91			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.271C>G	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683133	0.68157	.	.	ENSG00000198390	ENST00000355459	T	0.04234	3.67	4.51	3.63	0.41609	.	0.000000	0.42420	D	0.000701	T	0.15003	0.0362	M	0.81497	2.545	0.24151	N	0.995693	D	0.54047	0.964	D	0.63957	0.92	T	0.08554	-1.0716	10	0.17832	T	0.49	.	7.1539	0.25626	0.0:0.8049:0.0:0.1951	.	91	Q8IUC0	KR131_HUMAN	A	91	ENSP00000347635:P91A	ENSP00000347635:P91A	P	+	1	0	KRTAP13-1	30690546	0.035000	0.19736	0.425000	0.26659	0.525000	0.34531	0.645000	0.24782	1.493000	0.48517	0.557000	0.71058	CCC		0.617	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3				11	45	0	0	0	0.00010058	0	11	45		
GART	2618	broad.mit.edu	37	21	34883639	34883639	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:34883639T>C	ENST00000381831.3	-	17	2497	c.2234A>G	c.(2233-2235)cAg>cGg	p.Q745R	GART_ENST00000381839.3_Missense_Mutation_p.Q745R|GART_ENST00000381815.4_Missense_Mutation_p.Q745R|GART_ENST00000543717.1_Missense_Mutation_p.Q297R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	745	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CTGCTCTGTCTGCTCCTTTGA	0.512																																						uc002yrx.2		NaN																	0				ovary(1)	1						c.(2233-2235)CAG>CGG		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						238.0	223.0	228.0					21																	34883639		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34883639T>C	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2234A>G	21.37:g.34883639T>C	ENSP00000371253:p.Gln745Arg					GART_uc002yrz.2_Missense_Mutation_p.Q745R|GART_uc010gmd.2_Missense_Mutation_p.Q407R|GART_uc002yry.2_Missense_Mutation_p.Q745R	p.Q745R	NM_000819	NP_000810	P22102	PUR2_HUMAN			17	2369	-			745			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.2234A>G	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	T	6.988	0.552405	0.13374	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.44	0.0853	0.14441	AIR synthase-related protein, C-terminal (2);	0.939539	0.09011	N	0.861541	T	0.09686	0.0238	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	10	0.16420	T	0.52	1.2387	5.9118	0.19033	0.2954:0.1921:0.0:0.5124	.	745	P22102	PUR2_HUMAN	R	9;745;745;745;297	ENSP00000371236:Q745R;ENSP00000371253:Q745R;ENSP00000371261:Q745R;ENSP00000443579:Q297R	ENSP00000371236:Q745R	Q	-	2	0	GART	33805509	0.001000	0.12720	0.000000	0.03702	0.899000	0.52679	0.991000	0.29654	-0.213000	0.10094	-0.256000	0.11100	CAG		0.512	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3		NM_000819		124	236	0	0	0	0.000147903	0	124	236		
DSCAM	1826	broad.mit.edu	37	21	41505787	41505787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:41505787C>G	ENST00000400454.1	-	19	4033	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1186	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACCATCCTCTTTGGTCCGG	0.597																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3556-3558)GAG>CAG		Down syndrome cell adhesion molecule isoform							78.0	83.0	81.0					21																	41505787		2053	4219	6272	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41505787C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3556G>C	21.37:g.41505787C>G	ENSP00000383303:p.Glu1186Gln					DSCAM_uc002yyr.1_RNA	p.E1186Q	NM_001389	NP_001380	O60469	DSCAM_HUMAN			19	4008	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1186			Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3556G>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000862	0.74818	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55052	0.54;0.54	5.39	4.5	0.54988	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	M	0.76938	2.355	0.49299	D	0.999773	D	0.67145	0.996	P	0.62740	0.906	T	0.72714	-0.4210	10	0.42905	T	0.14	.	15.552	0.76161	0.1391:0.8609:0.0:0.0	.	1186	O60469	DSCAM_HUMAN	Q	1186;938	ENSP00000383303:E1186Q;ENSP00000385342:E938Q	ENSP00000383303:E1186Q	E	-	1	0	DSCAM	40427657	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.615000	0.83006	1.251000	0.43983	0.655000	0.94253	GAG		0.597	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		17	95	0	0	0	7.07596e-05	0	17	95		
RRP1B	23076	broad.mit.edu	37	21	45104496	45104496	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:45104496C>T	ENST00000340648.4	+	10	1071	c.954C>T	c.(952-954)caC>caT	p.H318H		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	318					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ACACGCCCCACTTCAACAGGA	0.483																																						uc002zdk.2		NaN																	0				skin(1)	1						c.(952-954)CAC>CAT		ribosomal RNA processing 1 homolog B							137.0	128.0	131.0					21																	45104496		2203	4300	6503	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45104496C>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.954C>T	21.37:g.45104496C>T						RRP1B_uc002zdl.2_5'Flank	p.H318H	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	10	1068	+			318					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.954C>T	CCDS33577.1																																																																																				0.483	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1		NM_015056		18	80	0	0	0	9.7654e-05	0	18	80		
TRPM2	7226	broad.mit.edu	37	21	45795809	45795809	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:45795809G>C	ENST00000397928.1	+	6	1310	c.865G>C	c.(865-867)Gac>Cac	p.D289H	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D289H|TRPM2_ENST00000300482.5_Missense_Mutation_p.D289H|TRPM2_ENST00000397932.2_Missense_Mutation_p.D289H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	289					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCGTGGACGACGGGACCCA	0.587																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(865-867)GAC>CAC		transient receptor potential cation channel,							132.0	118.0	123.0					21																	45795809		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45795809G>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.865G>C	21.37:g.45795809G>C	ENSP00000381023:p.Asp289His					TRPM2_uc002zeu.1_Missense_Mutation_p.D289H|TRPM2_uc002zew.1_Missense_Mutation_p.D289H|TRPM2_uc010gpt.1_Missense_Mutation_p.D289H|TRPM2_uc002zex.1_Missense_Mutation_p.D75H	p.D289H	NM_003307	NP_003298	O94759	TRPM2_HUMAN			7	1078	+			289			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.865G>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196567	0.58126	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	4.27	2.4	0.29515	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.86028	2.79	0.46396	D	0.999021	D;D	0.89917	1.0;0.999	D;D	0.65443	0.935;0.935	T	0.14035	-1.0487	10	0.72032	D	0.01	-22.8796	8.165	0.31222	0.2547:0.0:0.7453:0.0	.	289;289	E9PGK7;O94759	.;TRPM2_HUMAN	H	289	ENSP00000300482:D289H;ENSP00000381023:D289H;ENSP00000300481:D289H;ENSP00000381026:D289H	ENSP00000300481:D289H	D	+	1	0	TRPM2	44620237	1.000000	0.71417	0.864000	0.33941	0.911000	0.54048	4.389000	0.59639	1.010000	0.39314	0.563000	0.77884	GAC		0.587	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		19	50	0	0	0	0.000132079	0	19	50		
MCM3AP	8888	broad.mit.edu	37	21	47693430	47693430	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:47693430C>T	ENST00000397708.1	-	8	2322	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E690K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	690	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGCCGCAGCTCGTGGGGCAGG	0.612																																						uc002zir.1		NaN																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(2068-2070)GAG>AAG		minichromosome maintenance complex component 3							61.0	52.0	55.0					21																	47693430		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47693430C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2068G>A	21.37:g.47693430C>T	ENSP00000380820:p.Glu690Lys						p.E690K	NM_003906	NP_003897	O60318	MCM3A_HUMAN			7	2104	-	Breast(49;0.112)		690					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.2068G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012518	0.93346	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.31247	1.5;1.5	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62895	-0.6757	10	0.54805	T	0.06	-37.1164	20.3932	0.98965	0.0:1.0:0.0:0.0	.	690	O60318	MCM3A_HUMAN	K	690	ENSP00000380820:E690K;ENSP00000291688:E690K	ENSP00000291688:E690K	E	-	1	0	MCM3AP	46517858	1.000000	0.71417	0.983000	0.44433	0.401000	0.30781	7.649000	0.83500	2.824000	0.97209	0.655000	0.94253	GAG		0.612	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		23	44	0	0	0	0.00047179	0	23	44		
PIWIL3	440822	broad.mit.edu	37	22	25131704	25131705	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:25131704_25131705GG>TT	ENST00000332271.5	-	13	2020_2021	c.1604_1605CC>AA	c.(1603-1605)cCC>cAA	p.P535Q	PIWIL3_ENST00000533313.1_Missense_Mutation_p.P426Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.P426Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	535					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTATGCCCATGGGGGCTGTGAC	0.386																																						uc003abd.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1603-1605)CCC>CAA		piwi-like 3																																				SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25131704_25131705GG>TT	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1604_1605delinsTT	22.37:g.25131704_25131705delinsTT	ENSP00000330031:p.Pro535Gln					PIWIL3_uc011ajx.1_Missense_Mutation_p.P426Q|PIWIL3_uc011ajy.1_Missense_Mutation_p.P426Q|PIWIL3_uc010gut.1_Missense_Mutation_p.P535Q	p.P535Q	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			13	2021_2022	-			535						Missense_Mutation	DNP	ENST00000332271.5	37	c.1604_1605CC>AA	CCDS33623.1																																																																																				0.386	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2		NM_001008496		8	234	0	0	0	6.4e-05	0	8	234		
EIF4ENIF1	56478	broad.mit.edu	37	22	31859020	31859020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:31859020G>A	ENST00000397525.1	-	6	908	c.685C>T	c.(685-687)Cag>Tag	p.Q229*	RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.Q229*|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.Q229*	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	229						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCAGACTGACTTGTGGGT	0.448																																						uc003akz.1		NaN																	0				ovary(1)	1						c.(685-687)CAG>TAG		eukaryotic translation initiation factor 4E							122.0	103.0	109.0					22																	31859020		2203	4300	6503	SO:0001587	stop_gained	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859020G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.685C>T	22.37:g.31859020G>A	ENSP00000380659:p.Gln229*					EIF4ENIF1_uc003ala.1_Nonsense_Mutation_p.Q229*|EIF4ENIF1_uc003alb.1_Intron	p.Q229*	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			6	849	-			229					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Nonsense_Mutation	SNP	ENST00000397525.1	37	c.685C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	38	6.986518	0.97983	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.66	5.66	0.87406	.	0.059490	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-11.9787	18.7679	0.91880	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000328103:Q229X	Q	-	1	0	EIF4ENIF1	30189020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.136000	0.94489	2.857000	0.98124	0.650000	0.86243	CAG		0.448	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1		NM_019843		17	55	0	0	0	0.000566183	0	17	55		
PDXP	57026	broad.mit.edu	37	22	38061588	38061588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:38061588G>T	ENST00000215904.6	+	2	657	c.601G>T	c.(601-603)Gag>Tag	p.E201*	PDXP_ENST00000403251.1_5'UTR|SH3BP1_ENST00000599616.1_Nonsense_Mutation_p.E510*	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	201					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					CGCTGCAGTGGAGACAGCCTC	0.662																																						uc003atj.1		NaN																	0				central_nervous_system(1)	1						c.(1528-1530)GAG>TAG		SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);							42.0	38.0	39.0					22																	38061588		2203	4300	6503	SO:0001587	stop_gained	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38061588G>T	BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.601G>T	22.37:g.38061588G>T	ENSP00000215904:p.Glu201*					PDXP_uc003atm.1_Nonsense_Mutation_p.E201*	p.E510*			Q9Y3L3	3BP1_HUMAN			17	2415	+	Melanoma(58;0.0574)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q9UGY2	Nonsense_Mutation	SNP	ENST00000215904.6	37	c.1528G>T	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	G	36	5.767940	0.96914	.	.	ENSG00000241360	ENST00000215904	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-15.146	19.5784	0.95453	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000215904:E201X	E	+	1	0	PDXP	36391534	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	9.761000	0.98940	2.624000	0.88883	0.561000	0.74099	GAG		0.662	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2		NM_020315		7	24	1	0	2.0095e-06	8.12818e-05	3.15297e-05	7	24		
NPTXR	23467	broad.mit.edu	37	22	39218743	39218743	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:39218743G>A	ENST00000333039.2	-	5	1497	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	458	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CAATGCCCAGGACCTGGGCTG	0.617																																					Pancreas(139;2521 3281 36965)	uc003awk.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1372-1374)GTC>GTT		neuronal pentraxin receptor							56.0	44.0	48.0					22																	39218743		2203	4300	6503	SO:0001819	synonymous_variant	23467					integral to membrane	metal ion binding	g.chr22:39218743G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1374C>T	22.37:g.39218743G>A							p.V458V	NM_014293	NP_055108	O95502	NPTXR_HUMAN			5	1528	-	Melanoma(58;0.04)		458			Pentaxin.|Extracellular (Potential).			Silent	SNP	ENST00000333039.2	37	c.1374C>T	CCDS33647.1																																																																																				0.617	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2		NM_014293		4	25	0	0	0	0.00024832	0	4	25		
GRAP2	9402	broad.mit.edu	37	22	40343185	40343185	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:40343185G>C	ENST00000344138.4	+	2	338	c.75G>C	c.(73-75)ttG>ttC	p.L25F	GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000407075.3_Missense_Mutation_p.L25F|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.L25F	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	25	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAGATGTTTTGAAGGTAGGTG	0.483																																						uc003ayh.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(73-75)TTG>TTC		GRB2-related adaptor protein 2							154.0	142.0	146.0					22																	40343185		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40343185G>C	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.75G>C	22.37:g.40343185G>C	ENSP00000339186:p.Leu25Phe					GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Missense_Mutation_p.L25F|GRAP2_uc011aoo.1_5'UTR|GRAP2_uc011aop.1_Missense_Mutation_p.L25F|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Missense_Mutation_p.L25F	p.L25F	NM_004810	NP_004801	O75791	GRAP2_HUMAN			2	338	+			25			SH3 1.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.75G>C	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398210	0.62177	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.52057	0.68;1.59;1.59;0.68	5.65	2.36	0.29203	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.54450	-0.8292	10	0.49607	T	0.09	-25.1974	6.8295	0.23902	0.1626:0.1564:0.681:0.0	.	25;25	Q6FI14;O75791	.;GRAP2_HUMAN	F	25	ENSP00000339186:L25F;ENSP00000446350:L25F;ENSP00000396355:L25F;ENSP00000385607:L25F	ENSP00000339186:L25F	L	+	3	2	GRAP2	38673131	1.000000	0.71417	0.995000	0.50966	0.616000	0.37450	0.381000	0.20619	0.722000	0.32252	0.557000	0.71058	TTG		0.483	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1		NM_004810		55	70	0	0	0	0.000147903	0	55	70		
MCHR1	2847	broad.mit.edu	37	22	41077227	41077227	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:41077227C>T	ENST00000249016.4	+	2	1260	c.564C>T	c.(562-564)atC>atT	p.I188I	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	188					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCACCCTCATCACGGCCATGG	0.572																																						uc003ayz.2		NaN																	0					0						c.(562-564)ATC>ATT		G protein-coupled receptor 24							187.0	166.0	173.0					22																	41077227		2203	4300	6503	SO:0001819	synonymous_variant	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077227C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.564C>T	22.37:g.41077227C>T						MCHR1_uc003aza.2_Silent_p.I77I	p.I188I	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	832	+			188			Helical; Name=3; (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.564C>T	CCDS14004.1																																																																																				0.572	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1		NM_005297		47	49	0	0	0	0.000147903	0	47	49		
SCUBE1	80274	broad.mit.edu	37	22	43606163	43606163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:43606163C>T	ENST00000360835.4	-	19	2593	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	823	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGACGCATTCAGCGTTGGCT	0.627																																						uc003bdt.1		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(2467-2469)GAA>AAA		signal peptide, CUB domain, EGF-like 1							102.0	87.0	92.0					22																	43606163		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43606163C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2467G>A	22.37:g.43606163C>T	ENSP00000354080:p.Glu823Lys						p.E823K	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			19	2555	-		all_neural(38;0.0414)|Ovarian(80;0.07)	823			CUB.		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.2467G>A	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817449	0.70912	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.18502	2.21	3.54	3.54	0.40534	CUB (5);	0.163547	0.52532	D	0.000061	T	0.34366	0.0895	L	0.51422	1.61	0.80722	D	1	D	0.62365	0.991	D	0.67548	0.952	T	0.19582	-1.0301	10	0.66056	D	0.02	.	15.6601	0.77178	0.0:1.0:0.0:0.0	.	823	Q8IWY4	SCUB1_HUMAN	K	823;453	ENSP00000354080:E823K	ENSP00000354080:E823K	E	-	1	0	SCUBE1	41936107	0.998000	0.40836	0.888000	0.34837	0.319000	0.28217	3.835000	0.55805	1.989000	0.58080	0.491000	0.48974	GAA		0.627	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3		NM_173050		14	19	0	0	0	0.000151284	0	14	19		
CHL1	10752	broad.mit.edu	37	3	440699	440699	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:440699G>A	ENST00000256509.2	+	26	3895		c.e26-1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCTACCACAGAATATGCTGG	0.348																																						uc003bou.2		NaN																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.e25-1		cell adhesion molecule with homology to L1CAM							195.0	183.0	187.0					3																	440699		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:440699G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3254-1G>A	3.37:g.440699G>A						CHL1_uc003bot.2_Splice_Site_p.E1085_splice|CHL1_uc003bow.1_Splice_Site_p.E1069_splice|CHL1_uc011asi.1_Splice_Site_p.K1032_splice	p.E1069_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	25	3477	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)						Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37	c.3206_splice	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944296	0.53079	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000445697	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852	0.24020	0.2165:0.0:0.7835:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	415699	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	8.555000	0.90693	2.447000	0.82792	0.650000	0.86243	.		0.348	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2		NM_006614	Intron	9	207	0	0	0	0.00010058	0	9	207		
THUMPD3	25917	broad.mit.edu	37	3	9424928	9424928	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:9424928C>T	ENST00000345094.3	+	8	1504	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000519043.1_RNA|THUMPD3_ENST00000452837.2_Silent_p.I390I|THUMPD3_ENST00000515662.2_Silent_p.I390I|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000520629.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	390						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGTGGGATATCTGCAATCTGC	0.418																																						uc003bro.3		NaN																	0				ovary(1)	1						c.(1168-1170)ATC>ATT		THUMP domain containing 3							131.0	122.0	125.0					3																	9424928		2203	4300	6503	SO:0001819	synonymous_variant	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9424928C>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1170C>T	3.37:g.9424928C>T						LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Silent_p.I390I	p.I390I	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	8	1318	+	Medulloblastoma(99;0.227)		390					Q9H8V6|Q9NVC1|Q9UFS3	Silent	SNP	ENST00000345094.3	37	c.1170C>T	CCDS2573.1																																																																																				0.418	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1		NM_015453		18	128	0	0	0	9.7654e-05	0	18	128		
TTLL3	26140	broad.mit.edu	37	3	9877038	9877038	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:9877038C>T	ENST00000547186.1	+	13	2400	c.2184C>T	c.(2182-2184)ccC>ccT	p.P728P	TTLL3_ENST00000426895.4_Silent_p.P871P|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	728					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TTCGATTCCCCACTGCCCTTG	0.552																																						uc003btg.2		NaN																	0				large_intestine(2)	2						c.(2182-2184)CCC>CCT		tubulin tyrosine ligase-like family, member 3							91.0	96.0	94.0					3																	9877038		1880	4095	5975	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9877038C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.2184C>T	3.37:g.9877038C>T						ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR	p.P728P	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			13	2400	+	Medulloblastoma(99;0.227)		728					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.2184C>T																																																																																					0.552	TTLL3-203	KNOWN	basic	protein_coding	protein_coding			NM_001025930.2		23	78	0	0	0	0.000229342	0	23	78		
TAMM41	132001	broad.mit.edu	37	3	11880710	11880710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:11880710G>A	ENST00000444133.2	-	3	539	c.397C>T	c.(397-399)Cga>Tga	p.R133*	TAMM41_ENST00000273037.5_Nonsense_Mutation_p.R133*|TAMM41_ENST00000455809.1_Nonsense_Mutation_p.R133*			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	133					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TTTTGGAGTCGTCCAGCAATG	0.393																																						uc003bwh.2		NaN																	0					0						c.(397-399)CGA>TGA		MMP37-like protein, mitochondrial precursor							112.0	113.0	113.0					3																	11880710		2203	4300	6503	SO:0001587	stop_gained	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11880710G>A		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.397C>T	3.37:g.11880710G>A	ENSP00000388598:p.Arg133*					C3orf31_uc003bwj.2_Nonsense_Mutation_p.R133*|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Nonsense_Mutation_p.R133*|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA	p.R133*	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN			3	639	-			133					B4DIY7|C9J2U4	Nonsense_Mutation	SNP	ENST00000444133.2	37	c.397C>T		.	.	.	.	.	.	.	.	.	.	G	38	7.102666	0.98066	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	.	.	.	5.19	3.36	0.38483	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-52.7659	9.1023	0.36676	0.0767:0.0:0.7768:0.1465	.	.	.	.	X	133	.	ENSP00000273037:R133X	R	-	1	2	TAMM41	11855710	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	2.680000	0.46918	0.563000	0.29222	-0.136000	0.14681	CGA		0.393	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2		NM_138807		35	54	0	0	0	0.000228196	0	35	54		
ZFYVE20	64145	broad.mit.edu	37	3	15115948	15115948	+	Missense_Mutation	SNP	G	G	A	rs202125221		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:15115948G>A	ENST00000253699.3	-	14	2309	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R566C	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	566	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGTGGGTGCGAGGCTCTCTG	0.567																																						uc003bzm.1		NaN																	0				skin(2)	2						c.(1696-1698)CGC>TGC		FYVE-finger-containing Rab5 effector protein							52.0	52.0	52.0					3																	15115948		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115948G>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1696C>T	3.37:g.15115948G>A	ENSP00000253699:p.Arg566Cys					ZFYVE20_uc010hek.1_Missense_Mutation_p.R566C	p.R566C	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			14	2310	-			566			Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1696C>T	CCDS2623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.799|8.799	0.932389|0.932389	0.18131|0.18131	.|.	.|.	ENSG00000131381|ENSG00000131381	ENST00000253699;ENST00000476527|ENST00000418832	T;T|.	0.52983|.	0.64;0.64|.	5.36|5.36	2.6|2.6	0.31112|0.31112	.|.	0.685505|.	0.15504|.	N|.	0.258899|.	T|T	0.33206|0.33206	0.0855|0.0855	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.04013|.	0.001|.	T|T	0.22382|0.22382	-1.0218|-1.0218	10|6	0.54805|0.21014	T|T	0.06|0.42	-1.9264|-1.9264	4.5892|4.5892	0.12299|0.12299	0.2484:0.0:0.597:0.1546|0.2484:0.0:0.597:0.1546	.|.	566|.	Q9H1K0|.	RBNS5_HUMAN|.	C|L	566|120	ENSP00000253699:R566C;ENSP00000422551:R566C|.	ENSP00000253699:R566C|ENSP00000389567:S120L	R|S	-|-	1|2	0|0	ZFYVE20|ZFYVE20	15090952|15090952	0.017000|0.017000	0.18338|0.18338	0.740000|0.740000	0.30986|0.30986	0.679000|0.679000	0.39708|0.39708	1.887000|1.887000	0.39698|0.39698	0.649000|0.649000	0.30751|0.30751	0.491000|0.491000	0.48974|0.48974	CGC|TCG		0.567	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2		NM_022340		9	32	0	0	0	0.000274275	0	9	32		
OSBPL10	114884	broad.mit.edu	37	3	31921292	31921292	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:31921292G>A	ENST00000396556.2	-	2	434	c.312C>T	c.(310-312)atC>atT	p.I104I	OSBPL10_ENST00000438237.2_Silent_p.I104I	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	104	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AATACTGCAGGATGCCAGCCT	0.478																																						uc003cev.2		NaN																	0				skin(1)	1						c.(310-312)ATC>ATT		oxysterol-binding protein-like protein 10							70.0	66.0	68.0					3																	31921292		2203	4300	6503	SO:0001819	synonymous_variant	114884				lipid transport		lipid binding	g.chr3:31921292G>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.312C>T	3.37:g.31921292G>A						OSBPL10_uc011axf.1_Silent_p.I104I	p.I104I	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	3	693	-			104			PH.		B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	c.312C>T	CCDS2651.1																																																																																				0.478	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2				10	46	0	0	0	0.000442599	0	10	46		
NKTR	4820	broad.mit.edu	37	3	42678621	42678621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:42678621G>C	ENST00000232978.8	+	13	1613	c.1425G>C	c.(1423-1425)atG>atC	p.M475I	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	475	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCGAAGAATGAAATCCTCTT	0.393																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(1423-1425)ATG>ATC		natural killer-tumor recognition sequence							56.0	53.0	54.0					3																	42678621		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678621G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1425G>C	3.37:g.42678621G>C	ENSP00000232978:p.Met475Ile					NKTR_uc003clm.1_Missense_Mutation_p.M222I|NKTR_uc003clp.2_Missense_Mutation_p.M222I|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.M365I|NKTR_uc003clr.1_Missense_Mutation_p.M222I|NKTR_uc003cls.2_Missense_Mutation_p.M175I	p.M475I	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	1572	+			475			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.1425G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	9.192	1.026353	0.19512	.	.	ENSG00000114857	ENST00000232978	T	0.11385	2.78	5.72	3.8	0.43715	.	0.588129	0.19507	N	0.112615	T	0.06188	0.0160	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28459	-1.0043	10	0.51188	T	0.08	-0.2562	2.8849	0.05658	0.1687:0.145:0.5374:0.149	.	175;475	Q6M1B8;P30414	.;NKTR_HUMAN	I	475	ENSP00000232978:M475I	ENSP00000232978:M475I	M	+	3	0	NKTR	42653625	0.343000	0.24818	0.989000	0.46669	0.595000	0.36748	0.620000	0.24403	1.402000	0.46780	-0.182000	0.12963	ATG		0.393	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		19	67	0	0	0	0.000229342	0	19	67		
TDGF1	6997	broad.mit.edu	37	3	46621544	46621544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:46621544G>A	ENST00000296145.5	+	5	1175	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	LRRC2_ENST00000296144.3_5'UTR|TDGF1_ENST00000542931.1_Missense_Mutation_p.G132S	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	148					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|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 endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATTTCTACCCGGCTGTGGTAA	0.547																																						uc003cpv.2		NaN																	0					0						c.(442-444)GGC>AGC		teratocarcinoma-derived growth factor 1							55.0	54.0	54.0					3																	46621544		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46621544G>A	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.442G>A	3.37:g.46621544G>A	ENSP00000296145:p.Gly148Ser					LRRC2_uc003cpu.3_5'UTR	p.G148S	NM_003212	NP_003203	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	5	722	+			148					Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.442G>A	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742721	0.69418	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	D;D	0.83163	-1.69;-1.69	4.29	3.41	0.39046	Cryptic/Cripto, CFC domain (1);	0.116985	0.56097	D	0.000037	D	0.86053	0.5841	L	0.54323	1.7	0.33154	D	0.546116	D	0.89917	1.0	D	0.74674	0.984	D	0.86972	0.2098	10	0.54805	T	0.06	.	7.4128	0.27027	0.116:0.0:0.884:0.0	.	148	P13385	TDGF1_HUMAN	S	132;148	ENSP00000446375:G132S;ENSP00000296145:G148S	ENSP00000296145:G148S	G	+	1	0	AC104304.1	46596548	0.961000	0.32948	0.351000	0.25721	0.018000	0.09664	3.341000	0.52151	2.406000	0.81754	0.655000	0.94253	GGC		0.547	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2		NM_003212		24	37	0	0	0	0.000184323	0	24	37		
SHISA5	51246	broad.mit.edu	37	3	48510922	48510922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:48510922G>A	ENST00000296444.2	-	5	817	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	SHISA5_ENST00000426002.1_Nonsense_Mutation_p.Q58*|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000444115.1_Nonsense_Mutation_p.Q130*|SHISA5_ENST00000443308.2_Nonsense_Mutation_p.Q154*|SHISA5_ENST00000442747.1_Nonsense_Mutation_p.Q130*	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	161	Pro-rich.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.Q161*(1)		large_intestine(1)|lung(1)	2						CTTGGAGGCTGAGGATAAGGG	0.602																																						uc003ctp.1		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(481-483)CAG>TAG		scotin precursor							112.0	103.0	106.0					3																	48510922		2203	4300	6503	SO:0001587	stop_gained	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48510922G>A	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.481C>T	3.37:g.48510922G>A	ENSP00000296444:p.Gln161*					SHISA5_uc003ctn.1_Missense_Mutation_p.S29L|SHISA5_uc003ctm.1_Nonsense_Mutation_p.Q58*|SHISA5_uc011bbk.1_Missense_Mutation_p.S69L|SHISA5_uc003cto.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctq.1_Nonsense_Mutation_p.Q154*|SHISA5_uc003ctr.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003cts.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctt.2_Nonsense_Mutation_p.Q58*|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Nonsense_Mutation_p.Q59*	p.Q161*	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			5	615	-			161			Cytoplasmic (Potential).|Pro-rich.		B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Nonsense_Mutation	SNP	ENST00000296444.2	37	c.481C>T	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161928	0.97338	.	.	ENSG00000164054	ENST00000296444;ENST00000444115;ENST00000426002;ENST00000442747;ENST00000443308	.	.	.	5.05	5.05	0.67936	.	0.337981	0.24683	N	0.036442	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-11.6466	14.2556	0.66051	0.0:0.0:1.0:0.0	.	.	.	.	X	161;130;58;130;154	.	ENSP00000296444:Q161X	Q	-	1	0	SHISA5	48485926	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.485000	0.73625	2.497000	0.84241	0.563000	0.77884	CAG		0.602	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3		NM_016479		7	39	0	0	0	0.000157383	0	7	39		
RHOA	387	broad.mit.edu	37	3	49405951	49405951	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:49405951G>T	ENST00000418115.1	-	3	571	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.Q63K|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	63					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TAATCTTCCTGCCCAGCTGTG	0.483																																						uc003cwu.2		NaN																	0				ovary(2)	2						c.(187-189)CAG>AAG		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						114.0	109.0	110.0					3																	49405951		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49405951G>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.187C>A	3.37:g.49405951G>T	ENSP00000400175:p.Gln63Lys					RHOA_uc010hku.2_5'UTR	p.Q63K	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	463	-			63	Q->L: Causes constitutive activation.		GTP (By similarity).		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.187C>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544364	0.86022	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.83506	-1.73;-1.73;-1.73	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	H	0.96015	3.755	0.80722	D	1	B	0.16802	0.019	B	0.28709	0.093	D	0.88684	0.3204	10	0.87932	D	0	.	18.6067	0.91268	0.0:0.0:1.0:0.0	.	63	P61586	RHOA_HUMAN	K	63	ENSP00000400175:Q63K;ENSP00000413587:Q63K;ENSP00000408402:Q63K	ENSP00000400175:Q63K	Q	-	1	0	RHOA	49380955	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.681000	0.98653	2.749000	0.94314	0.551000	0.68910	CAG		0.483	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3		NM_001664		24	93	1	0	2.79863e-10	9.22233e-05	4.48025e-09	24	93		
SEMA3G	56920	broad.mit.edu	37	3	52473745	52473745	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:52473745C>T	ENST00000231721.2	-	12	1417	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	473	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TTCAGCTGAGCCCCCTGCCTG	0.622																																						uc003dea.1		NaN																	0				ovary(2)	2						c.(1417-1419)GGC>GAC		semaphorin sem2 precursor							75.0	71.0	73.0					3																	52473745		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52473745C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1418G>A	3.37:g.52473745C>T	ENSP00000231721:p.Gly473Asp						p.G473D	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	12	1418	-			473			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1418G>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	4.149	0.026078	0.08054	.	.	ENSG00000010319	ENST00000231721	T	0.21191	2.02	5.6	-7.31	0.01441	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.703052	0.14103	N	0.341255	T	0.06826	0.0174	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37150	-0.9718	10	0.12103	T	0.63	.	8.8594	0.35247	0.0:0.2771:0.3636:0.3593	.	473	Q9NS98	SEM3G_HUMAN	D	473	ENSP00000231721:G473D	ENSP00000231721:G473D	G	-	2	0	SEMA3G	52448785	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.841000	0.04359	-1.369000	0.02147	-0.150000	0.13652	GGC		0.622	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1		NM_020163		7	19	0	0	0	0.000157383	0	7	19		
NT5DC2	64943	broad.mit.edu	37	3	52558849	52558849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:52558849C>T	ENST00000307076.4	-	13	1685	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	NT5DC2_ENST00000307092.4_Missense_Mutation_p.E370K|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E466K|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E441K	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	429							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCCTGCCGCTCTTTCATCCAG	0.657																																						uc003deo.2		NaN																	0					0						c.(1285-1287)GAG>AAG		5'-nucleotidase domain containing 2 isoform 2							50.0	53.0	52.0					3																	52558849		2203	4298	6501	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52558849C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1285G>A	3.37:g.52558849C>T	ENSP00000302468:p.Glu429Lys					NT5DC2_uc003dem.2_Missense_Mutation_p.E299K|NT5DC2_uc003den.2_Missense_Mutation_p.E466K|NT5DC2_uc010hmi.2_Missense_Mutation_p.E441K|NT5DC2_uc010hmj.2_Missense_Mutation_p.E245K	p.E429K	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	13	1709	-			429					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.1285G>A	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036170	0.93630	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.15	4.24	0.50183	HAD-like domain (1);	0.046833	0.85682	D	0.000000	T	0.52403	0.1732	M	0.87180	2.865	0.80722	D	1	D;B;B	0.55385	0.971;0.238;0.368	P;B;B	0.60068	0.868;0.219;0.292	T	0.62544	-0.6832	10	0.72032	D	0.01	-30.1245	15.2955	0.73902	0.0:0.8598:0.1402:0.0	.	441;429;466	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	K	370;143;429;466;441	ENSP00000306017:E370K;ENSP00000418780:E143K;ENSP00000302468:E429K;ENSP00000406933:E466K;ENSP00000419547:E441K	ENSP00000302468:E429K	E	-	1	0	NT5DC2	52533889	1.000000	0.71417	0.999000	0.59377	0.576000	0.36127	5.971000	0.70440	2.406000	0.81754	0.484000	0.47621	GAG		0.657	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1		NM_022908		9	31	0	0	0	0.000274275	0	9	31		
CACNA1D	776	broad.mit.edu	37	3	53804028	53804028	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:53804028C>A	ENST00000350061.5	+	31	4410	c.3899C>A	c.(3898-3900)cCa>cAa	p.P1300Q	CACNA1D_ENST00000422281.2_Intron|CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1320Q|CACNA1D_ENST00000540742.1_Intron	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1300					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCCCTGTCCCAACTGCTACA	0.438																																						uc003dgv.3		NaN																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3898-3900)CCA>CAA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						160.0	169.0	166.0					3																	53804028		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53804028C>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3899C>A	3.37:g.53804028C>A	ENSP00000288133:p.Pro1300Gln					CACNA1D_uc003dgu.3_Missense_Mutation_p.P1320Q|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Missense_Mutation_p.P967Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.P476Q	p.P1300Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	31	4062	+			1300			Extracellular (Potential).|IV.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3899C>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908079	0.33721	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000481478	D;D;D	0.97404	-3.89;-3.91;-4.37	5.93	5.93	0.95920	Ion transport (1);	0.671559	0.13014	N	0.420640	D	0.94627	0.8268	N	0.22421	0.69	0.80722	D	1	B;B;P	0.45176	0.001;0.005;0.852	B;B;B	0.43082	0.002;0.007;0.407	D	0.92764	0.6226	10	0.28530	T	0.3	.	18.5214	0.90954	0.0:1.0:0.0:0.0	.	993;1300;1320	Q59GD8;Q01668;Q01668-2	.;CAC1D_HUMAN;.	Q	1300;1320;993	ENSP00000288133:P1300Q;ENSP00000288139:P1320Q;ENSP00000418014:P993Q	ENSP00000288139:P1320Q	P	+	2	0	CACNA1D	53779068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.746000	0.62133	2.814000	0.96858	0.655000	0.94253	CCA		0.438	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		NM_000720		8	228	1	0	2.17888e-05	0.000442599	0.000339942	8	228		
PHLDB2	90102	broad.mit.edu	37	3	111603142	111603142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:111603142C>T	ENST00000431670.2	+	2	629	c.218C>T	c.(217-219)tCt>tTt	p.S73F	PHLDB2_ENST00000477695.1_Missense_Mutation_p.S73F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S73F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S73F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S73F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S100F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S73F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	73						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAAGCCCTTCTCCTTTGGGA	0.443																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(217-219)TCT>TTT		pleckstrin homology-like domain, family B,							145.0	155.0	152.0					3																	111603142		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603142C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.218C>T	3.37:g.111603142C>T	ENSP00000405405:p.Ser73Phe					PHLDB2_uc003dyc.2_Missense_Mutation_p.S100F|PHLDB2_uc003dyd.2_Missense_Mutation_p.S73F|PHLDB2_uc003dyg.2_Missense_Mutation_p.S73F|PHLDB2_uc003dyh.2_Missense_Mutation_p.S73F|PHLDB2_uc003dye.3_Missense_Mutation_p.S73F|PHLDB2_uc003dyf.3_Missense_Mutation_p.S73F	p.S73F	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	629	+			73					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.218C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338186	0.60963	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.37235	1.21;1.26;1.23;1.24;1.26;1.23	5.87	5.0	0.66597	.	0.317734	0.35096	N	0.003454	T	0.51024	0.1650	L	0.51422	1.61	0.38639	D	0.951555	D;D;D;D;D	0.76494	0.966;0.96;0.999;0.996;0.993	P;P;D;P;P	0.68943	0.691;0.605;0.961;0.885;0.837	T	0.57189	-0.7854	10	0.72032	D	0.01	.	11.1384	0.48388	0.0:0.9155:0.0:0.0845	.	73;73;73;73;100	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	F	100;100;73;73;73;73;73;73;73	ENSP00000377500:S100F;ENSP00000405405:S73F;ENSP00000405292:S73F;ENSP00000418296:S73F;ENSP00000377502:S73F;ENSP00000418319:S73F	ENSP00000352764:S100F	S	+	2	0	PHLDB2	113085832	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	4.679000	0.61649	1.627000	0.50400	0.655000	0.94253	TCT		0.443	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		131	301	0	0	0	0.000147903	0	131	301		
CFAP44	55779	broad.mit.edu	37	3	113114608	113114608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:113114608G>C	ENST00000295868.2	-	15	2041	c.1879C>G	c.(1879-1881)Ccc>Gcc	p.P627A	WDR52_ENST00000393845.2_Missense_Mutation_p.P627A|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGAGACATGGGAGACCACATT	0.343																																						uc003eae.1		NaN																	0				central_nervous_system(1)	1						c.(1879-1881)CCC>GCC		WD repeat domain 52 isoform 2							126.0	121.0	123.0					3																	113114608		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113114608G>C																												ENST00000295868.2:c.1879C>G	3.37:g.113114608G>C	ENSP00000295868:p.Pro627Ala						p.P627A	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			15	1925	-			627						Missense_Mutation	SNP	ENST00000295868.2	37	c.1879C>G	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	9.360	1.067765	0.20067	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.72835	-0.69;1.8	5.7	-11.4	0.00090	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	.	.	.	.	T	0.57799	0.2078	M	0.73217	2.22	0.49798	D	0.99982	B	0.30851	0.297	B	0.31390	0.129	T	0.62714	-0.6796	9	0.66056	D	0.02	.	3.3413	0.07119	0.2444:0.0696:0.1841:0.5019	.	627	Q96MT7	WDR52_HUMAN	A	627	ENSP00000377428:P627A;ENSP00000295868:P627A	ENSP00000295868:P627A	P	-	1	0	WDR52	114597298	0.088000	0.21588	0.000000	0.03702	0.051000	0.14879	-0.893000	0.04127	-4.772000	0.00032	-0.913000	0.02753	CCC		0.343	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3				29	104	0	0	0	0.000339439	0	29	104		
ATP6V1A	523	broad.mit.edu	37	3	113505209	113505209	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:113505209G>C	ENST00000273398.3	+	6	803	c.695G>C	c.(694-696)aGa>aCa	p.R232T	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.R199T	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	232					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ACTGGCCAGAGAGTCCTTGAT	0.428																																						uc003eao.2		NaN																	0				ovary(2)|skin(1)	3						c.(694-696)AGA>ACA		ATPase, H+ transporting, lysosomal V1 subunit A							220.0	201.0	207.0					3																	113505209		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505209G>C	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.695G>C	3.37:g.113505209G>C	ENSP00000273398:p.Arg232Thr					ATP6V1A_uc011bik.1_Missense_Mutation_p.R199T	p.R232T	NM_001690	NP_001681	P38606	VATA_HUMAN			6	761	+			232					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.695G>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238769	0.95240	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.83837	-1.77;-1.77	5.42	5.42	0.78866	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95166	0.8433	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97000	0.9728	10	0.87932	D	0	-18.3107	19.2153	0.93774	0.0:0.0:1.0:0.0	.	232	P38606	VATA_HUMAN	T	232;199	ENSP00000273398:R232T;ENSP00000439874:R199T	ENSP00000273398:R232T	R	+	2	0	ATP6V1A	114987899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.209000	0.95087	2.546000	0.85860	0.591000	0.81541	AGA		0.428	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1		NM_001690		168	184	0	0	0	0.000147903	0	168	184		
GPR156	165829	broad.mit.edu	37	3	119886885	119886885	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:119886885G>T	ENST00000464295.1	-	10	1884	c.1439C>A	c.(1438-1440)tCt>tAt	p.S480Y	GPR156_ENST00000461057.1_Missense_Mutation_p.S476Y|GPR156_ENST00000315843.3_Missense_Mutation_p.S480Y			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	480						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TAAATGATCAGAAAAGTCTTT	0.532																																						uc011bjf.1		NaN																	0				ovary(1)|skin(1)	2						c.(1438-1440)TCT>TAT		G protein-coupled receptor 156							105.0	105.0	105.0					3																	119886885		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886885G>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1439C>A	3.37:g.119886885G>T	ENSP00000417261:p.Ser480Tyr					GPR156_uc011bjg.1_Missense_Mutation_p.S476Y	p.S480Y	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	1439	-			480			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1439C>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	7.404	0.633430	0.14322	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.25912	1.77;1.77;1.77	5.38	0.0721	0.14385	.	0.595516	0.16846	N	0.197156	T	0.20659	0.0497	M	0.65975	2.015	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.19582	-1.0301	9	.	.	.	-1.1179	3.426	0.07410	0.1214:0.1097:0.4536:0.3153	.	476;480	E9PFZ4;Q8NFN8	.;GP156_HUMAN	Y	480;480;476	ENSP00000417261:S480Y;ENSP00000324553:S480Y;ENSP00000418758:S476Y	.	S	-	2	0	GPR156	121369575	0.896000	0.30565	0.001000	0.08648	0.346000	0.29079	1.438000	0.35002	0.064000	0.16427	0.655000	0.94253	TCT		0.532	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1		NM_153002		25	135	1	0	4.4004e-07	0.00047179	6.94383e-06	25	135		
NDUFB4	4710	broad.mit.edu	37	3	120315335	120315335	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:120315335G>A	ENST00000184266.2	+	1	180	c.129G>A	c.(127-129)ctG>ctA	p.L43L	NDUFB4_ENST00000492739.1_Silent_p.L43L|NDUFB4_ENST00000485064.1_Silent_p.L43L	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	43					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		GAGCCCAGCTGAAACGAGAGT	0.632																																						uc003edu.2		NaN																	0					0						c.(127-129)CTG>CTA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						30.0	29.0	29.0					3																	120315335		2203	4296	6499	SO:0001819	synonymous_variant	4710				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:120315335G>A	AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"""Mitochondrial respiratory chain complex / Complex I"""	7699	protein-coding gene	gene with protein product	"""complex I B15 subunit"""	603840	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"""			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.129G>A	3.37:g.120315335G>A						NDUFB4_uc003edt.2_Silent_p.L43L	p.L43L	NM_004547	NP_004538	O95168	NDUB4_HUMAN		GBM - Glioblastoma multiforme(114;0.14)	1	208	+			43					B2RUY3|B9EJC7	Silent	SNP	ENST00000184266.2	37	c.129G>A	CCDS2999.1																																																																																				0.632	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1		NM_004547		24	23	0	0	0	0.000184323	0	24	23		
XRN1	54464	broad.mit.edu	37	3	142122729	142122729	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:142122729C>T	ENST00000264951.4	-	17	2103	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L	XRN1_ENST00000392981.2_Silent_p.L662L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	662					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGATGTGTTTCAGAGTAGGAA	0.289																																						uc003eus.2		NaN																	0				ovary(3)	3						c.(1984-1986)CTG>CTA		5'-3' exoribonuclease 1 isoform a							89.0	88.0	88.0					3																	142122729		2202	4296	6498	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142122729C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1986G>A	3.37:g.142122729C>T						XRN1_uc010huu.2_Silent_p.L128L|XRN1_uc003eut.2_Silent_p.L662L|XRN1_uc003euu.2_Silent_p.L662L|XRN1_uc003euv.1_Silent_p.L523L	p.L662L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			17	2053	-			662					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.1986G>A	CCDS3123.1																																																																																				0.289	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2		NM_019001		22	177	0	0	0	0.000586117	0	22	177		
LXN	56925	broad.mit.edu	37	3	158386887	158386887	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:158386887G>A	ENST00000264265.3	-	4	619	c.405C>T	c.(403-405)ctC>ctT	p.L135L	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	135	Cystatin-like fold 2. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AATGTAGAACGAGCGTCATTT	0.313																																						uc003fch.2		NaN																	0					0						c.(403-405)CTC>CTT		latexin							83.0	82.0	83.0					3																	158386887		2203	4299	6502	SO:0001819	synonymous_variant	56925					cytoplasm	metalloendopeptidase inhibitor activity|protein binding	g.chr3:158386887G>A	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.405C>T	3.37:g.158386887G>A						GFM1_uc003fcd.2_Intron|GFM1_uc003fce.2_Intron|GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron|LXN_uc011bov.1_Silent_p.L135L	p.L135L	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		4	620	-			135					Q96PN2|Q9NQS6	Silent	SNP	ENST00000264265.3	37	c.405C>T	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.160823	0.01686	.	.	ENSG00000079257	ENST00000482640	.	.	.	5.75	0.378	0.16204	.	.	.	.	.	T	0.41673	0.1169	.	.	.	0.54753	D	0.999984	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	-6.2517	1.2053	0.01893	0.1948:0.1312:0.232:0.4419	.	.	.	.	C	66	.	.	R	-	1	0	LXN	159869581	0.303000	0.24463	0.342000	0.25602	0.133000	0.20885	0.400000	0.20932	0.073000	0.16731	-0.262000	0.10625	CGT		0.313	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1		NM_020169		20	126	0	0	0	0.000175454	0	20	126		
PLD1	5337	broad.mit.edu	37	3	171455826	171455826	+	Missense_Mutation	SNP	C	C	T	rs376467720	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:171455826C>T	ENST00000351298.4	-	2	142	c.16G>A	c.(16-18)Gag>Aag	p.E6K	PLD1_ENST00000340989.4_Missense_Mutation_p.E6K|PLD1_ENST00000356327.5_Missense_Mutation_p.E6K|PLD1_ENST00000342215.6_Missense_Mutation_p.E6K	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	6					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCCGTGGCTCGTTTTTCAGT	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		19670	0.0		0.0	False		,,,				2504	0.002				NSCLC(149;2174 3517 34058)	uc003fhs.2		NaN																	0				ovary(2)|lung(1)	3						c.(16-18)GAG>AAG		phospholipase D1 isoform a	Choline(DB00122)	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	76.0	72.0	74.0		16,16	2.7	0.2	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLD1	NM_001130081.2,NM_002662.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	6/1037,6/1075	171455826	1,13005	2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171455826C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.16G>A	3.37:g.171455826C>T	ENSP00000342793:p.Glu6Lys					PLD1_uc003fht.2_Missense_Mutation_p.E6K	p.E6K	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		2	132	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		6						Missense_Mutation	SNP	ENST00000351298.4	37	c.16G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	9.145	1.014782	0.19355	0.0	1.16E-4	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989;ENST00000418087	T;T;T;T;T	0.48836	3.32;3.32;1.37;3.17;0.8	5.51	2.7	0.31948	.	0.222923	0.37261	N	0.002167	T	0.29945	0.0749	L	0.28274	0.84	0.20563	N	0.999881	B;B	0.29531	0.247;0.001	B;B	0.18263	0.021;0.001	T	0.14868	-1.0457	10	0.54805	T	0.06	-20.5083	8.5611	0.33511	0.0:0.7348:0.1261:0.1391	.	29;6	Q59EA4;Q13393	.;PLD1_HUMAN	K	6	ENSP00000348681:E6K;ENSP00000342793:E6K;ENSP00000339936:E6K;ENSP00000340326:E6K;ENSP00000400639:E6K	ENSP00000340326:E6K	E	-	1	0	PLD1	172938520	0.593000	0.26840	0.164000	0.22755	0.000000	0.00434	1.767000	0.38501	0.270000	0.21984	-0.812000	0.03155	GAG		0.413	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2		NM_002662		16	75	0	0	0	0.000566183	0	16	75		
GAK	2580	broad.mit.edu	37	4	845581	845581	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:845581C>T	ENST00000314167.4	-	25	3575	c.3465G>A	c.(3463-3465)gtG>gtA	p.V1155V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.V1076V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1155					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGCCCCGATCACACTGAAGT	0.657																																						uc003gbm.3		NaN																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(3463-3465)GTG>GTA		cyclin G associated kinase							39.0	44.0	42.0					4																	845581		2203	4298	6501	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845581C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3465G>A	4.37:g.845581C>T						GAK_uc003gbn.3_Silent_p.V1076V|GAK_uc003gbk.3_5'UTR|GAK_uc010ibi.2_Silent_p.V380V|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.V1008V	p.V1155V	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3664	-			1155					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.3465G>A	CCDS3340.1																																																																																				0.657	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		10	28	0	0	0	0.00010058	0	10	28		
ADD1	118	broad.mit.edu	37	4	2916622	2916622	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:2916622G>C	ENST00000398129.1	+	12	1637	c.1617G>C	c.(1615-1617)gtG>gtC	p.V539V	ADD1_ENST00000503455.2_Silent_p.V570V|ADD1_ENST00000513328.2_Silent_p.V539V|ADD1_ENST00000398125.1_Silent_p.V570V|ADD1_ENST00000355842.3_Silent_p.V570V|ADD1_ENST00000398123.2_Silent_p.V570V|ADD1_ENST00000264758.7_Silent_p.V570V|ADD1_ENST00000446856.1_Silent_p.V539V			P35611	ADDA_HUMAN	adducin 1 (alpha)	539					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAGCTGGTGACGGCCTCCA	0.647																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NaN																	0				ovary(1)	1						c.(1615-1617)GTG>GTC		adducin 1 (alpha) isoform a							88.0	88.0	88.0					4																	2916622		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2916622G>C	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1617G>C	4.37:g.2916622G>C						ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.V570V|ADD1_uc003gfp.2_Silent_p.V539V|ADD1_uc003gfq.2_Silent_p.V570V|ADD1_uc003gfs.2_Silent_p.V570V	p.V539V	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	1805	+			539					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.1617G>C	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176101	0.21704	.	.	ENSG00000087274	ENST00000514940	.	.	.	5.56	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.0448	10.9409	0.47273	0.2067:0.0:0.7933:0.0	.	.	.	.	S	276	.	.	X	+	2	2	ADD1	2886420	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.323000	0.65858	0.725000	0.32318	-0.251000	0.11542	TGA		0.647	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1		NM_014189		3	78	0	0	0	6.4e-05	0	3	78		
KCNIP4	80333	broad.mit.edu	37	4	20734378	20734378	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:20734378C>T	ENST00000382152.2	-	7	735	c.568G>A	c.(568-570)Gat>Aat	p.D190N	KCNIP4_ENST00000359001.5_Missense_Mutation_p.D128N|KCNIP4_ENST00000509207.1_Missense_Mutation_p.D128N|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Missense_Mutation_p.D169N|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Missense_Mutation_p.D156N|KCNIP4_ENST00000382148.3_Missense_Mutation_p.D165N	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CCCATCATATCGTATATTGCT	0.378																																						uc003gqe.2		NaN																	0					0						c.(517-519)GAT>AAT		Kv channel interacting protein 4 isoform 3							123.0	113.0	116.0					4																	20734378		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20734378C>T	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.568G>A	4.37:g.20734378C>T	ENSP00000371587:p.Asp190Asn					KCNIP4_uc003gqf.1_Missense_Mutation_p.D169N|KCNIP4_uc003gqg.1_Missense_Mutation_p.D128N|KCNIP4_uc003gqh.1_Missense_Mutation_p.D165N|KCNIP4_uc003gqi.1_Missense_Mutation_p.D128N|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Missense_Mutation_p.D170N|KCNIP4_uc003gqd.3_Missense_Mutation_p.D153N	p.D173N	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN			6	601	-		Breast(46;0.134)	190			EF-hand 3.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.517G>A	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393241	0.96009	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	EF-hand-like domain (1);	0.133842	0.64402	D	0.000003	T	0.81103	0.4753	L	0.47190	1.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.97;0.97;0.995	T	0.81972	-0.0688	10	0.66056	D	0.02	.	19.4268	0.94743	0.0:1.0:0.0:0.0	.	165;169;173;190	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	N	165;156;169;128;190;128;128	ENSP00000371583:D165N;ENSP00000399080:D156N;ENSP00000371585:D169N;ENSP00000371587:D190N;ENSP00000423257:D128N;ENSP00000351892:D128N	ENSP00000351892:D128N	D	-	1	0	KCNIP4	20343476	1.000000	0.71417	0.772000	0.31596	0.952000	0.60782	7.772000	0.85439	2.659000	0.90383	0.558000	0.71614	GAT		0.378	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3		NM_025221		17	44	0	0	0	7.07596e-05	0	17	44		
EXOC1	55763	broad.mit.edu	37	4	56768579	56768579	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:56768579G>A	ENST00000381295.2	+	18	2755	c.2407G>A	c.(2407-2409)Gca>Aca	p.A803T	EXOC1_ENST00000349598.6_Missense_Mutation_p.A788T|EXOC1_ENST00000346134.7_Missense_Mutation_p.A803T	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	803					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTACCAACTTGCATTTAACAA	0.378																																						uc003hbe.1		NaN																	0				ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(2407-2409)GCA>ACA		exocyst complex component 1 isoform 1							108.0	109.0	109.0					4																	56768579		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56768579G>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2407G>A	4.37:g.56768579G>A	ENSP00000370695:p.Ala803Thr					EXOC1_uc003hbf.1_Missense_Mutation_p.A803T|EXOC1_uc003hbg.1_Missense_Mutation_p.A788T	p.A803T	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			18	2565	+	Glioma(25;0.08)|all_neural(26;0.101)		803					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2407G>A	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815032	0.90790	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.79868	0.4520	M	0.74647	2.275	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.74023	0.829;0.982	T	0.80899	-0.1176	9	0.59425	D	0.04	.	19.3685	0.94475	0.0:0.0:1.0:0.0	.	788;803	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	T	803;803;788	.	ENSP00000326514:A803T	A	+	1	0	EXOC1	56463336	1.000000	0.71417	0.995000	0.50966	0.631000	0.37964	9.476000	0.97823	2.585000	0.87301	0.591000	0.81541	GCA		0.378	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1		NM_018261		22	53	0	0	0	0.000295444	0	22	53		
EPHA5	2044	broad.mit.edu	37	4	66361157	66361157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:66361157C>T	ENST00000273854.3	-	4	1615	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	EPHA5_ENST00000511294.1_Missense_Mutation_p.E339K|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.E339K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	339	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAATCCTTTTCACAGACACAA	0.468										TSP Lung(17;0.13)																												uc003hcy.2		NaN																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1015-1017)GAA>AAA		ephrin receptor EphA5 isoform a precursor							166.0	162.0	164.0					4																	66361157		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361157C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1015G>A	4.37:g.66361157C>T	ENSP00000273854:p.Glu339Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.E270K|EPHA5_uc003hcz.2_Missense_Mutation_p.E339K|EPHA5_uc011cah.1_Missense_Mutation_p.E339K|EPHA5_uc011cai.1_Missense_Mutation_p.E339K|EPHA5_uc003hda.2_Missense_Mutation_p.E339K	p.E339K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			4	1208	-			339			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1015G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391452	0.95988	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97209	1.6;1.6;-4.29	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000036	D	0.97623	0.9221	L	0.58810	1.83	0.58432	D	0.999998	P;P;P;D	0.55800	0.897;0.63;0.937;0.973	P;P;P;P	0.56751	0.643;0.459;0.805;0.585	D	0.97569	1.0103	10	0.54805	T	0.06	.	20.1504	0.98084	0.0:1.0:0.0:0.0	.	339;339;339;339	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	339	ENSP00000273854:E339K;ENSP00000346899:E339K;ENSP00000427638:E339K	ENSP00000273854:E339K	E	-	1	0	EPHA5	66043752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.400000	0.79949	2.770000	0.95276	0.460000	0.39030	GAA		0.468	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439		12	131	0	0	0	6.40141e-05	0	12	131		
SEPT11	55752	broad.mit.edu	37	4	77926942	77926942	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:77926942G>A	ENST00000264893.6	+	3	532	c.331G>A	c.(331-333)Gat>Aat	p.D111N	SEPT11_ENST00000510515.1_Missense_Mutation_p.D121N|SEPT11_ENST00000502584.1_Missense_Mutation_p.D111N|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.D121N|SEPT11_ENST00000505788.1_Missense_Mutation_p.D111N	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	111	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GATAAATAAAGATGACAGGTA	0.423																																						uc003hkj.2		NaN																	0					0						c.(331-333)GAT>AAT		septin 11							110.0	108.0	109.0					4																	77926942		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77926942G>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.331G>A	4.37:g.77926942G>A	ENSP00000264893:p.Asp111Asn					SEPT11_uc010ijh.1_Missense_Mutation_p.D103N|SEPT11_uc011cca.1_Missense_Mutation_p.D121N	p.D111N	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN			3	493	+			111					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.331G>A	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159650	0.94686	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000504637;ENST00000512778;ENST00000541121	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;1.35;1.35;0.76	5.38	5.38	0.77491	.	0.068799	0.64402	D	0.000012	T	0.45895	0.1365	L	0.45051	1.395	0.54753	D	0.999988	B;B	0.22146	0.065;0.045	B;B	0.21546	0.021;0.035	T	0.41822	-0.9487	10	0.72032	D	0.01	.	19.1464	0.93471	0.0:0.0:1.0:0.0	.	121;111	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	N	111;111;103;111;121;121;121;121	ENSP00000264893:D111N;ENSP00000426344:D111N;ENSP00000420839:D103N;ENSP00000424925:D111N;ENSP00000422896:D121N;ENSP00000425262:D121N;ENSP00000422047:D121N;ENSP00000443701:D121N	ENSP00000264893:D111N	D	+	1	0	SEPT11	78145966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.494000	0.84150	0.557000	0.71058	GAT		0.423	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1		NM_018243		20	56	0	0	0	0.000175454	0	20	56		
ARHGAP24	83478	broad.mit.edu	37	4	86915953	86915953	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:86915953C>A	ENST00000395184.1	+	9	1612	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P	ARHGAP24_ENST00000395183.2_Silent_p.P287P|ARHGAP24_ENST00000264343.4_Silent_p.P289P	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	382					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CTGAGTCACCCCAGAGAAGCA	0.502																																						uc003hpk.2		NaN																	0					0						c.(1144-1146)CCC>CCA		Rho GTPase activating protein 24 isoform 1							177.0	181.0	180.0					4																	86915953		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86915953C>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1146C>A	4.37:g.86915953C>A						ARHGAP24_uc003hpl.2_Silent_p.P287P|ARHGAP24_uc010ikf.2_Silent_p.P297P|ARHGAP24_uc003hpm.2_Silent_p.P289P	p.P382P	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1595	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	382					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.1146C>A	CCDS34025.1																																																																																				0.502	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2		NM_031305		53	88	1	0	1.56989e-16	0.000147903	2.58051e-15	53	88		
RAP1GDS1	5910	broad.mit.edu	37	4	99363176	99363176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:99363176C>G	ENST00000408927.3	+	15	1845	c.1732C>G	c.(1732-1734)Cta>Gta	p.L578V	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L487V|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L530V|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L529V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L578V|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L579V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	578					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTTGGCTTTTCTAGATGTCGT	0.408			T	NUP98	T-ALL																																	uc003htx.3		NaN		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				ovary(1)|lung(1)|breast(1)	3						c.(1732-1734)CTA>GTA		RAP1, GTP-GDP dissociation stimulator 1 isoform							76.0	77.0	77.0					4																	99363176		1893	4118	6011	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99363176C>G		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1732C>G	4.37:g.99363176C>G	ENSP00000386153:p.Leu578Val					RAP1GDS1_uc003htw.3_Missense_Mutation_p.L579V|RAP1GDS1_uc003htv.3_Missense_Mutation_p.L578V|RAP1GDS1_uc003htz.3_Missense_Mutation_p.L529V|RAP1GDS1_uc003hty.3_Missense_Mutation_p.L530V|RAP1GDS1_uc003hua.3_Missense_Mutation_p.L487V	p.L578V	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	15	1922	+			578					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1732C>G	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201004	0.38905	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.52526	0.66;1.5;0.66;0.66;0.66;0.66	6.03	4.28	0.50868	Armadillo-like helical (1);	0.147419	0.46442	D	0.000293	T	0.29093	0.0723	N	0.14661	0.345	0.42127	D	0.99145	P;B;B;P;B;B	0.49447	0.696;0.154;0.096;0.924;0.083;0.079	B;B;B;B;B;B	0.40741	0.168;0.083;0.038;0.339;0.048;0.073	T	0.03221	-1.1059	10	0.25106	T	0.35	-2.3933	11.4407	0.50094	0.1263:0.8087:0.0:0.065	.	487;529;530;578;579;578	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	V	530;487;578;578;529;579	ENSP00000369503:L530V;ENSP00000264572:L487V;ENSP00000386153:L578V;ENSP00000407157:L578V;ENSP00000386223:L529V;ENSP00000340454:L579V	ENSP00000264572:L487V	L	+	1	2	RAP1GDS1	99582199	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.713000	0.47194	0.838000	0.34948	0.655000	0.94253	CTA		0.408	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2		NM_001100426		16	33	0	0	0	7.07596e-05	0	16	33		
CENPE	1062	broad.mit.edu	37	4	104070087	104070087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:104070087C>A	ENST00000265148.3	-	28	3846	c.3757G>T	c.(3757-3759)Gaa>Taa	p.E1253*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E1228*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1253					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTCTTAGTTCATCAATAGTT	0.323																																						uc003hxb.1		NaN																	0				ovary(5)|breast(4)	9						c.(3757-3759)GAA>TAA		centromere protein E							138.0	140.0	139.0					4																	104070087		2203	4300	6503	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104070087C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3757G>T	4.37:g.104070087C>A	ENSP00000265148:p.Glu1253*					CENPE_uc003hxc.1_Nonsense_Mutation_p.E1228*	p.E1253*	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	28	3847	-			1253			Potential.		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.3757G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	41	9.033895	0.99042	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	4.06	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	5.5813	0.17250	0.0:0.8076:0.0:0.1924	.	.	.	.	X	1253;1253;1228	.	ENSP00000265148:E1253X	E	-	1	0	CENPE	104289536	0.000000	0.05858	0.986000	0.45419	0.883000	0.51084	-0.724000	0.04947	2.243000	0.73865	0.563000	0.77884	GAA		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					31	71	1	0	3.57733e-08	0.000279167	5.69383e-07	31	71		
TRPC3	7222	broad.mit.edu	37	4	122828620	122828620	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:122828620G>T	ENST00000379645.3	-	7	1968	c.1895C>A	c.(1894-1896)gCa>gAa	p.A632E	TRPC3_ENST00000513531.1_Missense_Mutation_p.A504E|TRPC3_ENST00000264811.5_Missense_Mutation_p.A559E	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	547					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTCTCATTTGCAGGGAGGAT	0.448																																						uc003ieg.2		NaN																	0				ovary(2)	2						c.(1894-1896)GCA>GAA		transient receptor potential cation channel,							121.0	121.0	121.0					4																	122828620		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122828620G>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1895C>A	4.37:g.122828620G>T	ENSP00000368966:p.Ala632Glu					TRPC3_uc010inr.2_Missense_Mutation_p.A504E|TRPC3_uc003ief.2_Missense_Mutation_p.A559E|TRPC3_uc011cgl.1_Missense_Mutation_p.A296E	p.A632E	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			7	1969	-			547			Extracellular (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1895C>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168209	0.94768	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98633	-5.04;-5.04;-5.04	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99290	0.9752	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.986;0.995;0.998	D	0.99285	1.0897	10	0.72032	D	0.01	1.442	19.4029	0.94637	0.0:0.0:1.0:0.0	.	547;504;632	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	E	559;632;504	ENSP00000264811:A559E;ENSP00000368966:A632E;ENSP00000426899:A504E	ENSP00000264811:A559E	A	-	2	0	TRPC3	123048070	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	9.753000	0.98904	2.571000	0.86741	0.655000	0.94253	GCA		0.448	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1		NM_003305		58	138	1	0	1.95512e-22	0.000147903	3.22332e-21	58	138		
SLC25A31	83447	broad.mit.edu	37	4	128685476	128685476	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:128685476G>C	ENST00000281154.4	+	3	607	c.439G>C	c.(439-441)Gat>Cat	p.D147H		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	147					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						ATATCCTCTAGATTTTGCCCG	0.378																																						uc003ifl.2		NaN																	0					0						c.(439-441)GAT>CAT		solute carrier family 25 (mitochondrial carrier;							110.0	104.0	106.0					4																	128685476		2203	4300	6503	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128685476G>C	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.439G>C	4.37:g.128685476G>C	ENSP00000281154:p.Asp147His						p.D147H	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			3	585	+			147			Solcar 2.			Missense_Mutation	SNP	ENST00000281154.4	37	c.439G>C	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695804	0.88830	.	.	ENSG00000151475	ENST00000281154	D	0.84589	-1.87	5.0	5.0	0.66597	Mitochondrial carrier domain (2);	0.000000	0.53938	D	0.000049	D	0.95214	0.8448	H	0.97732	4.065	0.58432	D	0.999997	D	0.76494	0.999	D	0.75020	0.985	D	0.96802	0.9590	10	0.87932	D	0	-8.1436	17.2333	0.86991	0.0:0.0:1.0:0.0	.	147	Q9H0C2	ADT4_HUMAN	H	147	ENSP00000281154:D147H	ENSP00000281154:D147H	D	+	1	0	SLC25A31	128904926	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	8.616000	0.90924	2.607000	0.88179	0.655000	0.94253	GAT		0.378	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2		NM_031291		17	56	0	0	0	9.7654e-05	0	17	56		
PRMT9	90826	broad.mit.edu	37	4	148575529	148575529	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:148575529G>C	ENST00000322396.6	-	9	1761	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.Q394E	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		507						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTACTGGTCTGAAGGTTAGCG	0.383																																						uc003ilc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1519-1521)CAG>GAG		protein arginine methyltransferase 10							159.0	150.0	153.0					4																	148575529		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575529G>C																												ENST00000322396.6:c.1519C>G	4.37:g.148575529G>C	ENSP00000314396:p.Gln507Glu					PRMT10_uc003ilb.2_Missense_Mutation_p.Q151E|PRMT10_uc003ild.2_Missense_Mutation_p.Q394E	p.Q507E	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			9	1661	-			507					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1519C>G	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401441	0.42613	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.26810	1.71;1.71	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	M	0.72118	2.19	0.51767	D	0.999933	P	0.37141	0.584	B	0.31290	0.127	T	0.26573	-1.0099	10	0.02654	T	1	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	507	Q6P2P2	ANM10_HUMAN	E	507;394	ENSP00000314396:Q507E;ENSP00000439508:Q394E	ENSP00000314396:Q507E	Q	-	1	0	PRMT10	148794979	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.287000	0.78681	2.873000	0.98535	0.561000	0.74099	CAG		0.383	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1				30	82	0	0	0	0.000339439	0	30	82		
RAPGEF2	9693	broad.mit.edu	37	4	160264207	160264207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:160264207C>T	ENST00000264431.4	+	15	2931	c.2512C>T	c.(2512-2514)Caa>Taa	p.Q838*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	838	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAACTATTTCAAGATCTCCA	0.423																																						uc003iqg.3		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2512-2514)CAA>TAA		Rap guanine nucleotide exchange factor 2							100.0	92.0	95.0					4																	160264207		1890	4115	6005	SO:0001587	stop_gained	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160264207C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2512C>T	4.37:g.160264207C>T	ENSP00000264431:p.Gln838*						p.Q838*	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	15	2822	+	all_hematologic(180;0.24)		838			Ras-GEF.		D3DP27	Nonsense_Mutation	SNP	ENST00000264431.4	37	c.2512C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	45	11.413789	0.99558	.	.	ENSG00000109756	ENST00000264431	.	.	.	5.82	5.82	0.92795	.	0.156110	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0926	0.97825	0.0:1.0:0.0:0.0	.	.	.	.	X	838	.	ENSP00000264431:Q838X	Q	+	1	0	RAPGEF2	160483657	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.041000	0.57339	2.745000	0.94114	0.561000	0.74099	CAA		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247		15	33	0	0	0	0.000308642	0	15	33		
NAF1	92345	broad.mit.edu	37	4	164050300	164050300	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:164050300G>C	ENST00000274054.2	-	8	1427	c.1234C>G	c.(1234-1236)Cag>Gag	p.Q412E	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	412					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q412*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTTGTCTCTGAGAAGGAAAT	0.502																																						uc003iqj.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1234-1236)CAG>GAG		nuclear assembly factor 1 homolog isoform a							71.0	79.0	76.0					4																	164050300		2203	4300	6503	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050300G>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1234C>G	4.37:g.164050300G>C	ENSP00000274054:p.Gln412Glu					NAF1_uc010iqw.1_Intron	p.Q412E	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1428	-	all_hematologic(180;0.166)	Prostate(90;0.109)	412					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1234C>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833749	0.16820	.	.	ENSG00000145414	ENST00000274054	T	0.46451	0.87	4.35	4.35	0.52113	.	0.811860	0.11301	N	0.578181	T	0.28962	0.0719	L	0.29908	0.895	0.23271	N	0.998005	B	0.18741	0.03	B	0.18263	0.021	T	0.15206	-1.0445	10	0.02654	T	1	-6.7022	13.097	0.59197	0.0:0.0:1.0:0.0	.	412	Q96HR8	NAF1_HUMAN	E	412	ENSP00000274054:Q412E	ENSP00000274054:Q412E	Q	-	1	0	NAF1	164269750	0.926000	0.31397	0.619000	0.29118	0.154000	0.21943	4.726000	0.61986	2.349000	0.79799	0.591000	0.81541	CAG		0.502	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2		NM_138386		9	35	0	0	0	0.000442599	0	9	35		
DDX60	55601	broad.mit.edu	37	4	169197306	169197306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:169197306C>T	ENST00000393743.3	-	15	2296	c.2005G>A	c.(2005-2007)Gct>Act	p.A669T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	669					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCTGAACAGCTATACTTAAA	0.313																																						uc003irp.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2005-2007)GCT>ACT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							107.0	105.0	106.0					4																	169197306		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169197306C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2005G>A	4.37:g.169197306C>T	ENSP00000377344:p.Ala669Thr						p.A669T	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2297	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	669					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2005G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497434	0.85069	.	.	ENSG00000137628	ENST00000393743	T	0.22134	1.97	5.15	4.3	0.51218	.	0.098182	0.44688	D	0.000424	T	0.38348	0.1037	M	0.76328	2.33	0.38791	D	0.954972	D	0.63046	0.992	P	0.53549	0.729	T	0.44697	-0.9311	10	0.42905	T	0.14	.	15.5575	0.76208	0.0:0.8612:0.1388:0.0	.	669	Q8IY21	DDX60_HUMAN	T	669	ENSP00000377344:A669T	ENSP00000377344:A669T	A	-	1	0	DDX60	169433881	1.000000	0.71417	0.982000	0.44146	0.860000	0.49131	2.443000	0.44881	1.279000	0.44446	0.557000	0.71058	GCT		0.313	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1		NM_017631		10	56	0	0	0	6.40141e-05	0	10	56		
CASP3	836	broad.mit.edu	37	4	185552257	185552257	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:185552257C>G	ENST00000308394.4	-	7	800	c.538G>C	c.(538-540)Gat>Cat	p.D180H	CASP3_ENST00000393588.4_Intron|CASP3_ENST00000393585.2_Intron|CASP3_ENST00000523916.1_Missense_Mutation_p.D180H|CASP3_ENST00000517513.1_Intron	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	180					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	GCCATGTCATCATCAACACCA	0.418																																						uc003iwh.2		NaN																	0				kidney(1)	1						c.(538-540)GAT>CAT		caspase 3 preproprotein	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						106.0	92.0	97.0					4																	185552257		2203	4300	6503	SO:0001583	missense	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185552257C>G	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.538G>C	4.37:g.185552257C>G	ENSP00000311032:p.Asp180His					CASP3_uc003iwg.2_Intron|CASP3_uc003iwi.2_Missense_Mutation_p.D180H	p.D180H	NM_004346	NP_004337	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	7	801	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	180					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.538G>C	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	C	7.963	0.747397	0.15710	.	.	ENSG00000164305	ENST00000308394;ENST00000523916	T;T	0.21543	2.0;2.0	5.7	3.02	0.34903	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.820305	0.11602	N	0.547683	T	0.29355	0.0731	M	0.80616	2.505	0.19775	N	0.999958	B	0.16603	0.018	B	0.27608	0.081	T	0.31971	-0.9924	10	0.72032	D	0.01	.	7.9638	0.30087	0.1319:0.7315:0.0:0.1367	.	180	P42574	CASP3_HUMAN	H	180	ENSP00000311032:D180H;ENSP00000428929:D180H	ENSP00000311032:D180H	D	-	1	0	CASP3	185789251	0.004000	0.15560	0.127000	0.21898	0.103000	0.19146	0.789000	0.26886	0.338000	0.23692	0.561000	0.74099	GAT		0.418	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2		NM_004346		21	39	0	0	0	9.22233e-05	0	21	39		
ADAMTS16	170690	broad.mit.edu	37	5	5239847	5239847	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:5239847G>A	ENST00000274181.7	+	16	2470	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	778	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCGCATCTATGAAATGAACGT	0.483																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2332-2334)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							150.0	141.0	144.0					5																	5239847		1892	4111	6003	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239847G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2332G>A	5.37:g.5239847G>A	ENSP00000274181:p.Glu778Lys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.E778K	p.E778K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2470	+			778			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2332G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137031	0.94517	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.57595	0.39	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.81133	0.4759	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.86241	0.1643	10	0.87932	D	0	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	778;778	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	K	778	ENSP00000274181:E778K	ENSP00000274181:E778K	E	+	1	0	ADAMTS16	5292847	1.000000	0.71417	0.030000	0.17652	0.870000	0.49936	8.985000	0.93487	2.615000	0.88500	0.655000	0.94253	GAA		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		29	102	0	0	0	0.000147802	0	29	102		
DNAH5	1767	broad.mit.edu	37	5	13913930	13913930	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:13913930G>A	ENST00000265104.4	-	11	1562	c.1458C>T	c.(1456-1458)atC>atT	p.I486I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	486	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGTTGTAAAGATGTCTATTA	0.358									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1456-1458)ATC>ATT		dynein, axonemal, heavy chain 5							130.0	134.0	133.0					5																	13913930		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13913930G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1458C>T	5.37:g.13913930G>A						DNAH5_uc003jfe.1_RNA	p.I486I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			11	1500	-	Lung NSC(4;0.00476)		486			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.1458C>T	CCDS3882.1																																																																																				0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		71	77	0	0	0	0.000147903	0	71	77		
DNAH5	1767	broad.mit.edu	37	5	13923405	13923406	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:13923405_13923406GG>TT	ENST00000265104.4	-	4	525_526	c.421_422CC>AA	c.(421-423)CCt>AAt	p.P141N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	141	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGTTGTCAGGGGTGATGGCT	0.455									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(421-423)CCT>AAT		dynein, axonemal, heavy chain 5																																				SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13923405_13923406GG>TT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.421_422delinsTT	5.37:g.13923405_13923406delinsTT	ENSP00000265104:p.Pro141Asn					DNAH5_uc003jfe.1_RNA	p.P141N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			4	463_464	-	Lung NSC(4;0.00476)		141			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	DNP	ENST00000265104.4	37	c.421_422CC>AA	CCDS3882.1																																																																																				0.455	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		10	333	0	0	0	6.4e-05	0	10	333		
RXFP3	51289	broad.mit.edu	37	5	33938041	33938041	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:33938041C>T	ENST00000330120.3	+	1	1551	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	399					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TTCCGCAAGGCGCTCAAGAGC	0.647																																						uc003jic.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1195-1197)GCG>GTG		relaxin/insulin-like family peptide receptor 3							63.0	65.0	64.0					5																	33938041		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33938041C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1196C>T	5.37:g.33938041C>T	ENSP00000328708:p.Ala399Val						p.A399V	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1553	+			399			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1196C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641199	0.67244	.	.	ENSG00000182631	ENST00000330120	T	0.44881	0.91	5.79	5.79	0.91817	.	0.109676	0.64402	D	0.000010	T	0.36744	0.0978	L	0.29908	0.895	0.58432	D	0.99999	P	0.47604	0.898	B	0.41412	0.356	T	0.06373	-1.0830	10	0.33141	T	0.24	-21.5224	20.0222	0.97508	0.0:1.0:0.0:0.0	.	399	Q9NSD7	RL3R1_HUMAN	V	399	ENSP00000328708:A399V	ENSP00000328708:A399V	A	+	2	0	RXFP3	33973798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.999000	0.57031	2.726000	0.93360	0.655000	0.94253	GCG		0.647	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1		NM_016568		23	57	0	0	0	0.000586117	0	23	57		
GZMA	3001	broad.mit.edu	37	5	54398548	54398548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:54398548C>T	ENST00000274306.6	+	1	73	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	13					apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCCTCTCTCTCAGTTGTCGTT	0.408																																						uc003jpm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(37-39)TCA>TTA		granzyme A precursor							203.0	181.0	188.0					5																	54398548		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54398548C>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.38C>T	5.37:g.54398548C>T	ENSP00000274306:p.Ser13Leu						p.S13L	NM_006144	NP_006135	P12544	GRAA_HUMAN			1	75	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	13					A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.38C>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	C	7.198	0.592929	0.13875	.	.	ENSG00000145649	ENST00000274306	D	0.88818	-2.43	5.0	3.23	0.37069	.	1.060370	0.07344	N	0.881198	T	0.80696	0.4672	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.64183	-0.6467	10	0.21014	T	0.42	.	8.69	0.34260	0.0:0.823:0.0:0.177	.	13	P12544	GRAA_HUMAN	L	13	ENSP00000274306:S13L	ENSP00000274306:S13L	S	+	2	0	GZMA	54434305	0.130000	0.22417	0.020000	0.16555	0.435000	0.31806	0.481000	0.22260	0.703000	0.31848	0.655000	0.94253	TCA		0.408	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2		NM_006144		43	67	0	0	0	0.000125731	0	43	67		
DDX4	54514	broad.mit.edu	37	5	55094377	55094377	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:55094377C>G	ENST00000505374.1	+	18	1685	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	DDX4_ENST00000511853.1_Silent_p.L382L|DDX4_ENST00000514278.2_Silent_p.L511L|DDX4_ENST00000353507.5_Silent_p.L497L|DDX4_ENST00000354991.5_Silent_p.L497L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	531	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGAAAAGCTCGTTGAAATTC	0.338																																						uc003jqg.3		NaN																	0				ovary(1)|skin(1)	2						c.(1591-1593)CTC>CTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							115.0	114.0	114.0					5																	55094377		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55094377C>G	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1593C>G	5.37:g.55094377C>G						DDX4_uc010ivz.2_Silent_p.L511L|DDX4_uc003jqh.3_Silent_p.L497L|DDX4_uc003jqj.2_Silent_p.L382L	p.L531L	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			18	1667	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	531			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1593C>G	CCDS3969.1																																																																																				0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2		NM_024415		35	60	0	0	0	0.000491102	0	35	60		
AGGF1	55109	broad.mit.edu	37	5	76351402	76351402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:76351402G>A	ENST00000312916.7	+	11	2079	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	566					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAGAAAATACGAGTAAAATAT	0.299																																						uc003ket.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1696-1698)CGA>CAA		angiogenic factor VG5Q							64.0	71.0	68.0					5																	76351402		2201	4282	6483	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76351402G>A	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1697G>A	5.37:g.76351402G>A	ENSP00000316109:p.Arg566Gln						p.R566Q	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	11	2057	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	566					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.1697G>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952531	0.73787	.	.	ENSG00000164252	ENST00000312916	T	0.36878	1.23	4.98	4.98	0.66077	.	0.056388	0.64402	D	0.000002	T	0.41166	0.1147	N	0.16233	0.39	0.80722	D	1	D	0.76494	0.999	P	0.58391	0.838	T	0.45220	-0.9276	10	0.66056	D	0.02	-0.5833	17.5929	0.88003	0.0:0.0:1.0:0.0	.	566	Q8N302	AGGF1_HUMAN	Q	566	ENSP00000316109:R566Q	ENSP00000316109:R566Q	R	+	2	0	AGGF1	76387158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.306000	0.72810	2.448000	0.82819	0.591000	0.81541	CGA		0.299	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2		NM_018046		12	48	0	0	0	0.000151284	0	12	48		
MEF2C	4208	broad.mit.edu	37	5	88100568	88100568	+	Silent	SNP	C	C	T	rs560463589		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:88100568C>T	ENST00000437473.2	-	3	522	c.105G>A	c.(103-105)ctG>ctA	p.L35L	MEF2C_ENST00000514028.1_Silent_p.L35L|MEF2C_ENST00000340208.5_Silent_p.L35L|MEF2C_ENST00000508569.1_Silent_p.L35L|MEF2C_ENST00000514015.1_Silent_p.L35L|MEF2C_ENST00000510942.1_Silent_p.L35L|MEF2C_ENST00000506554.1_Silent_p.L35L|MEF2C_ENST00000539796.1_Silent_p.L35L|MEF2C_ENST00000424173.2_Silent_p.L35L|MEF2C_ENST00000504921.2_Silent_p.L35L	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	35	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACAGCACGCTCAGCTCATAAG	0.418										HNSCC(66;0.2)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18792	0.0		0.0	False		,,,				2504	0.0					uc003kjj.2		NaN																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(103-105)CTG>CTA		myocyte enhancer factor 2C isoform 1							143.0	132.0	136.0					5																	88100568		2203	4300	6503	SO:0001819	synonymous_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88100568C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.105G>A	5.37:g.88100568C>T		HNSCC(66;0.2)				MEF2C_uc003kji.2_Silent_p.L35L|MEF2C_uc003kjk.2_Silent_p.L35L|MEF2C_uc003kjm.2_Silent_p.L35L|MEF2C_uc003kjl.2_Silent_p.L35L	p.L35L	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	3	778	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	35			MADS-box.		C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	c.105G>A	CCDS47245.1																																																																																				0.418	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1		NM_002397		10	42	0	0	0	0.000442599	0	10	42		
TTC37	9652	broad.mit.edu	37	5	94876439	94876439	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:94876439G>A	ENST00000358746.2	-	8	796	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	166						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTCAGCCAGGAACTGAGTCA	0.373																																						uc003klb.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(496-498)TTC>TTT		tetratricopeptide repeat domain 37							168.0	162.0	164.0					5																	94876439		2203	4300	6503	SO:0001819	synonymous_variant	9652						binding	g.chr5:94876439G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.498C>T	5.37:g.94876439G>A						TTC37_uc010jbf.1_Silent_p.F118F	p.F166F	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			8	768	-			166					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.498C>T	CCDS4072.1																																																																																				0.373	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		NM_014639		28	70	0	0	0	0.000147802	0	28	70		
RAD50	10111	broad.mit.edu	37	5	131927031	131927031	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:131927031A>G	ENST00000265335.6	+	10	1955	c.1568A>G	c.(1567-1569)cAg>cGg	p.Q523R	RAD50_ENST00000378823.3_Missense_Mutation_p.Q384R			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	523					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACTTGACCAGGAGATGGAG	0.368								Homologous recombination																														uc003kxi.2		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(1567-1569)CAG>CGG	Homologous_recombination	RAD50 homolog isoform 1							109.0	98.0	102.0					5																	131927031		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131927031A>G	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1568A>G	5.37:g.131927031A>G	ENSP00000265335:p.Gln523Arg					RAD50_uc003kxh.2_Missense_Mutation_p.Q384R	p.Q523R	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1955	+		all_cancers(142;0.0368)|Breast(839;0.198)	523			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1568A>G	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521243	0.44866	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.04654	3.58;3.8	5.7	5.7	0.88788	.	0.049536	0.85682	D	0.000000	T	0.06690	0.0171	L	0.60455	1.87	0.58432	D	0.999997	B	0.17268	0.021	B	0.10450	0.005	T	0.15723	-1.0427	10	0.06365	T	0.9	-11.8874	15.9745	0.80049	1.0:0.0:0.0:0.0	.	523	Q92878	RAD50_HUMAN	R	384;523	ENSP00000368100:Q384R;ENSP00000265335:Q523R	ENSP00000265335:Q523R	Q	+	2	0	RAD50	131954930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.730000	0.91510	2.168000	0.68352	0.533000	0.62120	CAG		0.368	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		3	47	0	0	0	6.4e-05	0	3	47		
ARHGAP26	23092	broad.mit.edu	37	5	142500655	142500655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:142500655C>G	ENST00000274498.4	+	18	2019	c.1641C>G	c.(1639-1641)atC>atG	p.I547M	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.I547M	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	547	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGCAGCCATCATGGACATCA	0.433																																						uc011dbj.1		NaN																	0				ovary(1)	1						c.(1639-1641)ATC>ATG		GTPase regulator associated with the focal							140.0	132.0	135.0					5																	142500655		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142500655C>G	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1641C>G	5.37:g.142500655C>G	ENSP00000274498:p.Ile547Met					ARHGAP26_uc003lmt.2_Missense_Mutation_p.I547M|ARHGAP26_uc003lmw.2_Missense_Mutation_p.I547M	p.I547M	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1676	+		all_hematologic(541;0.0416)	547			Rho-GAP.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1641C>G	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.57|11.57	1.678357|1.678357	0.29783|0.29783	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.22336|.	1.96;1.96|.	5.38|5.38	1.57|1.57	0.23409|0.23409	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.34366|.	0.0895|.	N|N	0.16743|0.16743	0.435|0.435	0.58432|0.58432	D|D	0.999999|0.999999	P;P;D|.	0.53312|.	0.941;0.493;0.959|.	P;B;D|.	0.66847|.	0.755;0.358;0.947|.	T|.	0.04242|.	-1.0966|.	10|.	0.19590|.	T|.	0.45|.	.|.	5.7034|5.7034	0.17895|0.17895	0.129:0.5501:0.0:0.3209|0.129:0.5501:0.0:0.3209	.|.	547;120;547|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	M|X	547;547;120|166;119	ENSP00000274498:I547M;ENSP00000367243:I547M|.	ENSP00000274498:I547M|.	I|S	+|+	3|2	3|0	ARHGAP26|ARHGAP26	142480848|142480848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.888000|1.888000	0.39708|0.39708	0.255000|0.255000	0.21593|0.21593	-0.137000|-0.137000	0.14449|0.14449	ATC|TCA		0.433	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3		NM_015071		40	71	0	0	0	0.000228196	0	40	71		
WDR46	9277	broad.mit.edu	37	6	33248750	33248750	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:33248750G>C	ENST00000374617.4	-	11	1486	c.1130C>G	c.(1129-1131)tCt>tGt	p.S377C	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	377							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GTCTAGGCCAGAGGTGGCCAT	0.552																																						uc003ods.2		NaN																	0					0						c.(1129-1131)TCT>TGT		WD repeat domain 46 isoform 1							79.0	82.0	81.0					6																	33248750		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33248750G>C	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1130C>G	6.37:g.33248750G>C	ENSP00000363746:p.Ser377Cys					WDR46_uc011dra.1_Missense_Mutation_p.S323C	p.S377C	NM_005452	NP_005443	O15213	WDR46_HUMAN			11	1174	-			377			WD 5.		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.1130C>G	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307297	0.81247	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.60920	0.15;0.15	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	N	0.13140	0.3	0.80722	D	1	D;P	0.56746	0.977;0.847	P;P	0.51777	0.679;0.676	T	0.47182	-0.9137	10	0.51188	T	0.08	-20.4976	16.6862	0.85309	0.0:0.0:1.0:0.0	.	323;377	B4DP15;O15213	.;WDR46_HUMAN	C	377;304	ENSP00000363746:S377C;ENSP00000405568:S304C	ENSP00000363746:S377C	S	-	2	0	WDR46	33356728	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.383000	0.73172	2.806000	0.96561	0.549000	0.68633	TCT		0.552	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2		NM_005452		11	34	0	0	0	6.40141e-05	0	11	34		
DNAH8	1769	broad.mit.edu	37	6	38810677	38810677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:38810677G>C	ENST00000359357.3	+	33	4446	c.4192G>C	c.(4192-4194)Gag>Cag	p.E1398Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.E1398Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.E1615Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1398					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATGATATTGAGGTACATAA	0.353																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4192-4194)GAG>CAG		dynein, axonemal, heavy polypeptide 8							97.0	90.0	93.0					6																	38810677		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810677G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4192G>C	6.37:g.38810677G>C	ENSP00000352312:p.Glu1398Gln						p.E1398Q	NM_001371	NP_001362					33	4792	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4192G>C		.	.	.	.	.	.	.	.	.	.	G	18.99	3.740600	0.69304	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.61742	0.08;0.08;0.08	5.12	5.12	0.69794	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.71273	0.3320	M	0.71920	2.185	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	T	0.72121	-0.4386	10	0.51188	T	0.08	.	18.9269	0.92549	0.0:0.0:1.0:0.0	.	1398	Q96JB1	DYH8_HUMAN	Q	1603;1603;1398;1398	ENSP00000333363:E1603Q;ENSP00000352312:E1398Q;ENSP00000402294:E1398Q	ENSP00000333363:E1603Q	E	+	1	0	DNAH8	38918655	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.771000	0.74996	2.532000	0.85374	0.557000	0.71058	GAG		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		105	33	0	0	0	0.000147903	0	105	33		
KIF6	221458	broad.mit.edu	37	6	39507812	39507813	+	Missense_Mutation	DNP	CC	CC	AA	rs142216439		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:39507812_39507813CC>AA	ENST00000287152.7	-	13	1705_1706	c.1611_1612GG>TT	c.(1609-1614)ttGGgg>ttTTgg	p.537_538LG>FW	KIF6_ENST00000373213.4_Missense_Mutation_p.376_377LG>FW|KIF6_ENST00000373216.3_Missense_Mutation_p.537_538LG>FW|KIF6_ENST00000373215.3_Missense_Mutation_p.537_538LG>FW|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	537					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATCTTTTCCCCAAAATGCTGA	0.465																																						uc003oot.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(1609-1614)TTGGGG>TTTTGG		kinesin family member 6																																				SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507812_39507813CC>AA	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1611_1612delinsAA	6.37:g.39507812_39507813delinsAA	ENSP00000287152:p.L537_G538delinsFW					KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.328_329LG>FW|KIF6_uc011dua.1_Missense_Mutation_p.537_538LG>FW|KIF6_uc010jxb.1_Intron	p.537_538LG>FW	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			13	1706_1707	-			537_538					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	DNP	ENST00000287152.7	37	c.1611_1612GG>TT	CCDS4844.1																																																																																				0.465	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2		NM_145027		14	443	0	0	0	6.4e-05	0	14	443		
TRERF1	55809	broad.mit.edu	37	6	42224512	42224512	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:42224512G>A	ENST00000372922.4	-	12	3096	c.2534C>T	c.(2533-2535)tCt>tTt	p.S845F	TRERF1_ENST00000354325.2_Missense_Mutation_p.S762F|TRERF1_ENST00000340840.2_Missense_Mutation_p.S762F|TRERF1_ENST00000372917.4_Missense_Mutation_p.S762F|TRERF1_ENST00000541110.1_Missense_Mutation_p.S865F	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	845	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAAATTCAGAATTGGTCCC	0.443																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2533-2535)TCT>TTT		transcriptional regulating factor 1							129.0	123.0	125.0					6																	42224512		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42224512G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2534C>T	6.37:g.42224512G>A	ENSP00000362013:p.Ser845Phe					TRERF1_uc011duq.1_Missense_Mutation_p.S762F|TRERF1_uc003osb.2_Missense_Mutation_p.S601F|TRERF1_uc003osc.2_Missense_Mutation_p.S601F|TRERF1_uc003ose.2_Missense_Mutation_p.S865F	p.S845F	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		12	3097	-	Colorectal(47;0.196)		845			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2534C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.248898	0.59103	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12672	2.83;2.66;2.86;2.66;2.66	5.74	4.88	0.63580	ELM2 domain (1);	0.000000	0.56097	D	0.000022	T	0.06554	0.0168	L	0.47716	1.5	0.38555	D	0.949552	B;B;B;B;B	0.17667	0.001;0.001;0.001;0.002;0.023	B;B;B;B;B	0.25884	0.007;0.003;0.003;0.007;0.064	T	0.05683	-1.0870	10	0.62326	D	0.03	-6.2044	9.2498	0.37549	0.2149:0.0:0.7851:0.0	.	762;865;845;601;601	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	F	865;762;845;762;762	ENSP00000439689:S865F;ENSP00000362008:S762F;ENSP00000362013:S845F;ENSP00000339438:S762F;ENSP00000346285:S762F	ENSP00000339438:S762F	S	-	2	0	TRERF1	42332490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.644000	0.54381	1.572000	0.49736	0.563000	0.77884	TCT		0.443	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		54	38	0	0	0	0.000147903	0	54	38		
TRERF1	55809	broad.mit.edu	37	6	42224558	42224558	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:42224558G>C	ENST00000372922.4	-	12	3050	c.2488C>G	c.(2488-2490)Ctg>Gtg	p.L830V	TRERF1_ENST00000354325.2_Missense_Mutation_p.L747V|TRERF1_ENST00000340840.2_Missense_Mutation_p.L747V|TRERF1_ENST00000372917.4_Missense_Mutation_p.L747V|TRERF1_ENST00000541110.1_Missense_Mutation_p.L850V	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	830	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACAAATTCAGAAGATTCTCC	0.463																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2488-2490)CTG>GTG		transcriptional regulating factor 1							107.0	105.0	106.0					6																	42224558		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42224558G>C	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2488C>G	6.37:g.42224558G>C	ENSP00000362013:p.Leu830Val					TRERF1_uc011duq.1_Missense_Mutation_p.L747V|TRERF1_uc003osb.2_Missense_Mutation_p.L586V|TRERF1_uc003osc.2_Missense_Mutation_p.L586V|TRERF1_uc003ose.2_Missense_Mutation_p.L850V	p.L830V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		12	3051	-	Colorectal(47;0.196)		830			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2488C>G	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243202	0.58995	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.63	4.75	0.60458	ELM2 domain (2);	0.000000	0.45361	D	0.000361	T	0.48840	0.1522	M	0.66939	2.045	0.53005	D	0.999967	D;D;D;D;B	0.71674	0.997;0.998;0.998;0.997;0.33	D;D;D;D;P	0.67548	0.919;0.952;0.952;0.919;0.479	T	0.48906	-0.8993	10	0.54805	T	0.06	-22.695	9.002	0.36088	0.1628:0.0:0.8372:0.0	.	747;850;830;586;586	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	V	850;747;830;747;747	ENSP00000439689:L850V;ENSP00000362008:L747V;ENSP00000362013:L830V;ENSP00000339438:L747V;ENSP00000346285:L747V	ENSP00000339438:L747V	L	-	1	2	TRERF1	42332536	0.995000	0.38212	1.000000	0.80357	0.884000	0.51177	1.774000	0.38573	2.814000	0.96858	0.563000	0.77884	CTG		0.463	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		55	28	0	0	0	0.000147903	0	55	28		
GTPBP2	54676	broad.mit.edu	37	6	43593155	43593155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:43593155G>A	ENST00000307126.5	-	5	649	c.650C>T	c.(649-651)tCt>tTt	p.S217F	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.S129F	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGTTCGGCCAGACTGAATCTC	0.592																																					GBM(116;405 1620 28302 32150 44768)	uc003ovs.2		NaN																	0				liver(1)|skin(1)	2						c.(649-651)TCT>TTT		GTP binding protein 2							136.0	136.0	136.0					6																	43593155		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43593155G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.650C>T	6.37:g.43593155G>A	ENSP00000303997:p.Ser217Phe					GTPBP2_uc010jyv.2_Missense_Mutation_p.S129F|GTPBP2_uc003ovt.1_Missense_Mutation_p.S217F	p.S217F	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		5	687	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		217						Missense_Mutation	SNP	ENST00000307126.5	37	c.650C>T	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376206	0.82682	.	.	ENSG00000172432	ENST00000307126;ENST00000307114;ENST00000452781	T;T;T	0.71222	-0.55;-0.55;0.67	4.38	4.38	0.52667	Protein synthesis factor, GTP-binding (1);	0.060699	0.64402	D	0.000002	D	0.85075	0.5614	M	0.92833	3.35	0.80722	D	1	D;D	0.67145	0.996;0.96	D;P	0.65773	0.938;0.765	D	0.89277	0.3609	10	0.87932	D	0	-6.9704	17.1322	0.86729	0.0:0.0:1.0:0.0	.	209;217	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	F	217;129;209	ENSP00000303997:S217F;ENSP00000304893:S129F;ENSP00000410676:S209F	ENSP00000304893:S129F	S	-	2	0	GTPBP2	43701133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.259000	0.74868	0.462000	0.41574	TCT		0.592	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1				36	79	0	0	0	0.00058488	0	36	79		
GCLC	2729	broad.mit.edu	37	6	53370630	53370630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:53370630C>G	ENST00000229416.6	-	11	1744	c.1261G>C	c.(1261-1263)Gga>Cga	p.G421R	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	421					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	ACTCTCCATCCAATGTCTGAG	0.428																																						uc003pbw.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1261-1263)GGA>CGA		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						143.0	131.0	135.0					6																	53370630		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53370630C>G	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1261G>C	6.37:g.53370630C>G	ENSP00000229416:p.Gly421Arg					GCLC_uc003pbv.1_Missense_Mutation_p.G145R	p.G421R	NM_001498	NP_001489	P48506	GSH1_HUMAN			11	1649	-	Lung NSC(77;0.0137)		421					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.1261G>C	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.854726|4.854726	0.91355|0.91355	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416|ENST00000514373	D|.	0.83914|.	-1.78|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.045029|.	0.85682|.	D|.	0.000000|.	D|D	0.86522|0.86522	0.5953|0.5953	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.89173|0.89173	0.3538|0.3538	10|5	0.87932|.	D|.	0|.	.|.	20.0627|20.0627	0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	421|.	P48506|.	GSH1_HUMAN|.	R|F	421|22	ENSP00000229416:G421R|.	ENSP00000229416:G421R|.	G|L	-|-	1|3	0|2	GCLC|GCLC	53478589|53478589	1.000000|1.000000	0.71417|0.71417	0.731000|0.731000	0.30826|0.30826	0.769000|0.769000	0.43574|0.43574	7.776000|7.776000	0.85560|0.85560	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GGA|TTG		0.428	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2				24	55	0	0	0	0.000147802	0	24	55		
ZNF292	23036	broad.mit.edu	37	6	87970067	87970067	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:87970067C>T	ENST00000369577.3	+	8	6763	c.6720C>T	c.(6718-6720)gaC>gaT	p.D2240D	ZNF292_ENST00000339907.4_Silent_p.D2235D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2240						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGAGGCAGACCACGGGATTG	0.418																																						uc003plm.3		NaN																	0				ovary(4)	4						c.(6718-6720)GAC>GAT		zinc finger protein 292							95.0	93.0	93.0					6																	87970067		1895	4122	6017	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970067C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6720C>T	6.37:g.87970067C>T							p.D2240D	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6761	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2240			C2H2-type 13.		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6720C>T	CCDS47457.1																																																																																				0.418	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2		NM_015021		31	70	0	0	0	0.000184323	0	31	70		
ANKRD6	22881	broad.mit.edu	37	6	90340347	90340347	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:90340347C>T	ENST00000522441.1	+	16	2449	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	ANKRD6_ENST00000369408.5_Missense_Mutation_p.A568V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A539V|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A603V|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A598V	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	603					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ATGAATGAGGCAGCCAGATCT	0.572																																						uc003pni.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(1807-1809)GCA>GTA		ankyrin repeat domain 6							27.0	29.0	29.0					6																	90340347		2045	4186	6231	SO:0001583	missense	22881						protein binding	g.chr6:90340347C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1808C>T	6.37:g.90340347C>T	ENSP00000430985:p.Ala603Val					ANKRD6_uc003pne.3_Missense_Mutation_p.A598V|ANKRD6_uc003pnf.3_Missense_Mutation_p.A568V|ANKRD6_uc011dzy.1_Missense_Mutation_p.A603V|ANKRD6_uc010kcd.2_Missense_Mutation_p.A539V|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.A199V|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.A199V	p.A603V	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	16	2149	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	603					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1808C>T	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	8.731	0.916631	0.17907	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T;T;T;T;T	0.67865	1.19;1.18;1.18;1.18;-0.29	4.42	3.54	0.40534	.	0.516315	0.17666	N	0.166124	T	0.33527	0.0866	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.25235	0.1;0.02;0.034;0.121	B;B;B;B	0.23419	0.045;0.014;0.036;0.046	T	0.24368	-1.0162	10	0.40728	T	0.16	-0.3408	9.4117	0.38496	0.0:0.7744:0.146:0.0796	.	539;603;568;598	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	V	568;603;598;603;539	ENSP00000358416:A568V;ENSP00000345767:A603V;ENSP00000396771:A598V;ENSP00000430985:A603V;ENSP00000429782:A539V	ENSP00000345767:A603V	A	+	2	0	ANKRD6	90397068	.	.	0.989000	0.46669	0.151000	0.21798	.	.	1.201000	0.43203	0.563000	0.77884	GCA		0.572	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1				6	20	0	0	0	8.12818e-05	0	6	20		
VNN2	8875	broad.mit.edu	37	6	133072623	133072623	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:133072623C>G	ENST00000326499.6	-	5	985	c.861G>C	c.(859-861)gtG>gtC	p.V287V	VNN2_ENST00000526192.1_5'Flank|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Silent_p.V234V|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	287	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CATAATGATACACTTTGGGAC	0.408																																						uc003qdt.2		NaN																	0					0						c.(859-861)GTG>GTC		vanin 2 isoform 1 precursor							61.0	62.0	62.0					6																	133072623		2189	4234	6423	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133072623C>G	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.861G>C	6.37:g.133072623C>G						VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.V234V	p.V287V	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	872	-			287			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.861G>C	CCDS5161.1																																																																																				0.408	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2				14	44	0	0	0	0.000151284	0	14	44		
LTV1	84946	broad.mit.edu	37	6	144179139	144179139	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:144179139G>C	ENST00000367576.5	+	6	924	c.790G>C	c.(790-792)Gag>Cag	p.E264Q		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	264						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGAGAGGTTTGAGAAGGTAAG	0.423																																						uc003qjs.2		NaN																	0				ovary(1)	1						c.(790-792)GAG>CAG		LTV1 homolog							68.0	68.0	68.0					6																	144179139		2203	4300	6503	SO:0001583	missense	84946							g.chr6:144179139G>C	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.790G>C	6.37:g.144179139G>C	ENSP00000356548:p.Glu264Gln					LTV1_uc003qju.1_Missense_Mutation_p.E49Q|C6orf94_uc010khj.2_5'UTR	p.E264Q	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	6	897	+			264					Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	c.790G>C	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095694	0.94197	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86058	0.1530	9	0.66056	D	0.02	0.6556	20.0553	0.97649	0.0:0.0:1.0:0.0	.	264	Q96GA3	LTV1_HUMAN	Q	264	.	ENSP00000356548:E264Q	E	+	1	0	LTV1	144220832	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.415000	0.97375	2.754000	0.94517	0.585000	0.79938	GAG		0.423	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1		NM_032860		28	15	0	0	0	0.000409698	0	28	15		
SCAF8	22828	broad.mit.edu	37	6	155123181	155123181	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:155123181G>C	ENST00000367178.3	+	7	1259	c.683G>C	c.(682-684)gGt>gCt	p.G228A	SCAF8_ENST00000417268.1_Missense_Mutation_p.G228A|SCAF8_ENST00000367186.4_Missense_Mutation_p.G294A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	228	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTAGATGCTGGTCTTGTTGTT	0.438																																						uc003qqa.2		NaN																	0					0						c.(682-684)GGT>GCT		RNA-binding motif protein 16							81.0	80.0	80.0					6																	155123181		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155123181G>C	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.683G>C	6.37:g.155123181G>C	ENSP00000356146:p.Gly228Ala					RBM16_uc011efj.1_Missense_Mutation_p.G294A|RBM16_uc011efk.1_Missense_Mutation_p.G273A|RBM16_uc003qpz.2_Missense_Mutation_p.G228A|RBM16_uc010kji.2_Missense_Mutation_p.G249A	p.G228A	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	8	915	+		Ovarian(120;0.196)	228			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.683G>C	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439666	0.63067	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.42900	0.98;0.98;0.96	5.94	5.94	0.96194	.	0.000000	0.85682	U	0.000000	T	0.46502	0.1396	L	0.31664	0.95	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.996;0.997	T	0.17289	-1.0374	10	0.30078	T	0.28	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	273;294;306;228	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	A	228;228;294	ENSP00000356146:G228A;ENSP00000413098:G228A;ENSP00000356154:G294A	ENSP00000356146:G228A	G	+	2	0	SCAF8	155164873	1.000000	0.71417	0.741000	0.31004	0.745000	0.42441	9.476000	0.97823	2.820000	0.97059	0.650000	0.86243	GGT		0.438	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892		4	79	0	0	0	0.000602214	0	4	79		
CCZ1B	221960	broad.mit.edu	37	7	6865862	6865862	+	5'UTR	SNP	G	G	C	rs141173433		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:6865862G>C	ENST00000316731.8	-	0	539				CCZ1B_ENST00000538180.1_5'Flank	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)							lysosome (GO:0005764)|membrane (GO:0016020)											AGCCTCCCACGGCCCGCCCAG	0.756																																						uc003sqx.1		NaN																	0					0						c.e1-1		hypothetical protein LOC221960							2.0	3.0	3.0					7																	6865862		820	1949	2769	SO:0001623	5_prime_UTR_variant	221960					lysosomal membrane		g.chr7:6865862G>C	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.-34C>G	7.37:g.6865862G>C						C7orf28B_uc011jxd.1_Splice_Site|C7orf28B_uc003sqy.1_Splice_Site		NM_198097	NP_932765	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)	1	1	-		Ovarian(82;0.232)						A2RU45|O95766|Q9UG65|Q9Y359	Splice_Site	SNP	ENST00000316731.8	37	c.-32_splice	CCDS5354.1																																																																																				0.756	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1		NM_198097		3	14	0	0	0	3.59834e-05	0	3	14		
ADCY1	107	broad.mit.edu	37	7	45650061	45650061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:45650061C>G	ENST00000297323.7	+	3	895	c.873C>G	c.(871-873)ttC>ttG	p.F291L	ADCY1_ENST00000432715.1_Missense_Mutation_p.F66L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	291					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGAGGATTTTCCACAAGATTT	0.577																																						uc003tne.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(871-873)TTC>TTG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						86.0	88.0	87.0					7																	45650061		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45650061C>G	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.873C>G	7.37:g.45650061C>G	ENSP00000297323:p.Phe291Leu					ADCY1_uc003tnd.2_Missense_Mutation_p.F66L	p.F291L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			3	891	+			291			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.873C>G	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.993137	0.74703	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.83914	-1.64;-1.78	4.88	2.64	0.31445	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.185793	0.47455	D	0.000239	D	0.85796	0.5780	M	0.87547	2.89	0.48571	D	0.999673	P;P	0.52842	0.455;0.956	B;P	0.48114	0.043;0.567	D	0.86295	0.1676	10	0.66056	D	0.02	.	9.249	0.37543	0.0:0.7754:0.0:0.2246	.	291;66	Q08828;C9J1J0	ADCY1_HUMAN;.	L	66;291;291	ENSP00000392721:F66L;ENSP00000297323:F291L	ENSP00000297323:F291L	F	+	3	2	ADCY1	45616586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.608000	0.36847	1.003000	0.39130	0.500000	0.49745	TTC		0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2		NM_021116		37	85	0	0	0	0.000374591	0	37	85		
RABGEF1	27342	broad.mit.edu	37	7	66270179	66270179	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:66270179C>T	ENST00000284957.5	+	8	950	c.873C>T	c.(871-873)atC>atT	p.I291I	RABGEF1_ENST00000439720.2_Silent_p.I304I|RABGEF1_ENST00000450873.2_Silent_p.I291I|KCTD7_ENST00000380828.2_Silent_p.I331I|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Silent_p.I305I|KCTD7_ENST00000510829.2_Silent_p.I291I|KCTD7_ENST00000451741.2_Silent_p.I291I			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	508					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TGGCCTGCATCACCAAGTGCA	0.458																																						uc011kee.1		NaN																	0				ovary(1)	1						c.(913-915)ATC>ATT		RAB guanine nucleotide exchange factor (GEF) 1							122.0	100.0	108.0					7																	66270179		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66270179C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.873C>T	7.37:g.66270179C>T						RABGEF1_uc003tvf.2_Silent_p.I164I|RABGEF1_uc003tvg.2_Silent_p.I99I|RABGEF1_uc010lag.2_Silent_p.I291I|RABGEF1_uc003tvh.2_Silent_p.I291I|RABGEF1_uc003tvi.2_Silent_p.I125I	p.I305I	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			8	1079	+			508			VPS9.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	c.915C>T	CCDS5535.1																																																																																				0.458	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3		NM_014504		14	61	0	0	0	0.000219431	0	14	61		
PCLO	27445	broad.mit.edu	37	7	82580207	82580207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:82580207C>T	ENST00000333891.9	-	6	10034	c.9697G>A	c.(9697-9699)Gag>Aag	p.E3233K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3233K|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAATTCCTCAGCAAAGCGC	0.443																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(9697-9699)GAG>AAG		piccolo isoform 1							72.0	69.0	70.0					7																	82580207		1853	4105	5958	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580207C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9697G>A	7.37:g.82580207C>T	ENSP00000334319:p.Glu3233Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E3233K|PCLO_uc010lec.2_Missense_Mutation_p.E198K	p.E3233K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	9986	-			3164			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9697G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.974	0.749804	0.15778	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.57273	0.41;0.45	5.45	5.45	0.79879	.	.	.	.	.	T	0.72045	0.3412	M	0.76170	2.325	0.80722	D	1	P;D;D	0.63046	0.698;0.992;0.992	B;D;D	0.63113	0.237;0.911;0.911	T	0.75351	-0.3348	9	0.87932	D	0	.	18.8749	0.92331	0.0:1.0:0.0:0.0	.	3164;3233;3233	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3164;3233;3233	ENSP00000334319:E3233K;ENSP00000388393:E3233K	ENSP00000334319:E3233K	E	-	1	0	PCLO	82418143	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	7.792000	0.85828	2.565000	0.86533	0.462000	0.41574	GAG		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		38	88	0	0	0	0.000228196	0	38	88		
CCDC132	55610	broad.mit.edu	37	7	92978099	92978099	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:92978099C>T	ENST00000305866.5	+	24	2412	c.2284C>T	c.(2284-2286)Ctt>Ttt	p.L762F	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.L573F|CCDC132_ENST00000535481.1_Missense_Mutation_p.L482F|CCDC132_ENST00000544910.1_Missense_Mutation_p.L732F	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	762						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGCCCTTTCTTCAGCAGTT	0.403																																						uc003umo.2		NaN																	0					0						c.(2284-2286)CTT>TTT		coiled-coil domain containing 132 isoform a							160.0	154.0	156.0					7																	92978099		1918	4130	6048	SO:0001583	missense	55610							g.chr7:92978099C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2284C>T	7.37:g.92978099C>T	ENSP00000307666:p.Leu762Phe					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L732F|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L482F	p.L762F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		24	2412	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		762					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2284C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762756	0.89932	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.22	5.22	0.72569	Protein of unknown function DUF2451, C-terminal (1);	0.063133	0.64402	D	0.000004	D	0.83912	0.5357	M	0.83384	2.64	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.87578	0.998;0.996;0.995	D	0.86139	0.1580	9	0.87932	D	0	-10.6045	19.1714	0.93580	0.0:1.0:0.0:0.0	.	482;732;762	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	F	762;732;573;482	.	ENSP00000307666:L762F	L	+	1	0	CCDC132	92816035	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.889000	0.69766	2.596000	0.87737	0.655000	0.94253	CTT		0.403	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1		NM_017667		42	88	0	0	0	0.000509022	0	42	88		
CYP3A7	1551	broad.mit.edu	37	7	99306789	99306789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:99306789C>G	ENST00000336374.2	-	11	1124	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	374					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCAGACCCTCTCAAGTCTCA	0.428																																						uc003uru.2		NaN																	0				ovary(1)	1						c.(1120-1122)GAG>GAC		cytochrome P450, family 3, subfamily A,							169.0	156.0	160.0					7																	99306789		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99306789C>G	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1122G>C	7.37:g.99306789C>G	ENSP00000337450:p.Glu374Asp					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.E374D	NM_000765	NP_000756	P24462	CP3A7_HUMAN			11	1227	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		374					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1122G>C	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	c	4.469	0.086861	0.08583	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69175	-0.38	3.46	1.0	0.19881	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	N	0.21282	0.65	0.38396	D	0.945541	B	0.15473	0.013	B	0.21151	0.033	T	0.10019	-1.0648	10	0.19147	T	0.46	.	2.8343	0.05509	0.0:0.4051:0.2402:0.3547	.	374	P24462	CP3A7_HUMAN	D	374	ENSP00000337450:E374D	ENSP00000292414:E374D	E	-	3	2	CYP3A7	99144725	0.906000	0.30813	0.997000	0.53966	0.131000	0.20780	0.003000	0.13083	0.556000	0.29098	0.305000	0.20034	GAG		0.428	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1				19	106	0	0	0	9.7654e-05	0	19	106		
STAG3	10734	broad.mit.edu	37	7	99808634	99808634	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:99808634G>A	ENST00000426455.1	+	30	3646	c.3239G>A	c.(3238-3240)gGg>gAg	p.G1080E	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Splice_Site_p.G1080E|STAG3_ENST00000394018.2_Splice_Site_p.G1022E|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1080					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTTGGCAGGGCCTGCCAAG	0.572																																						uc003utx.1		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(3238-3240)GGG>GAG		stromal antigen 3							56.0	58.0	58.0					7																	99808634		2203	4300	6503	SO:0001630	splice_region_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99808634G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3239-1G>A	7.37:g.99808634G>A						STAG3_uc011kjk.1_Missense_Mutation_p.G1022E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.G304E	p.G1080E	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			30	3394	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1080					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.3239G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	g	11.76	1.733399	0.30684	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.0	3.03	0.35002	.	1.570190	0.03778	N	0.260879	T	0.12475	0.0303	N	0.02539	-0.55	0.18873	N	0.999985	B;B;B	0.28713	0.046;0.22;0.049	B;B;B	0.29267	0.028;0.1;0.024	T	0.25847	-1.0120	9	.	.	.	.	8.9577	0.35827	0.0:0.1715:0.6743:0.1542	.	1022;1080;1080	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	E	1080;1022;743;100;1080;38	ENSP00000400359:G1080E;ENSP00000377586:G1022E;ENSP00000319318:G1080E;ENSP00000395039:G38E	.	G	+	2	0	STAG3	99646570	0.875000	0.30112	0.123000	0.21794	0.006000	0.05464	1.182000	0.32029	1.077000	0.40990	0.561000	0.74099	GGG		0.572	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2		NM_012447	Missense_Mutation	27	62	0	0	0	0.000117367	0	27	62		
MUC17	140453	broad.mit.edu	37	7	100677336	100677336	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:100677336C>A	ENST00000306151.4	+	3	2703	c.2639C>A	c.(2638-2640)tCt>tAt	p.S880Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	880	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCACTTCTGCAATCAGC	0.498																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2638-2640)TCT>TAT		mucin 17 precursor							295.0	289.0	291.0					7																	100677336		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677336C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2639C>A	7.37:g.100677336C>A	ENSP00000302716:p.Ser880Tyr					MUC17_uc010lho.1_RNA	p.S880Y	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2692	+	Lung NSC(181;0.136)|all_lung(186;0.182)		880			Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2639C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.704	-0.500903	0.04261	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.852	0.852	0.18995	.	.	.	.	.	T	0.01627	0.0052	N	0.14661	0.345	0.09310	N	1	P	0.36647	0.563	B	0.28305	0.088	T	0.50701	-0.8797	9	0.27082	T	0.32	.	7.5321	0.27689	0.0:0.9999:0.0:1.0E-4	.	880	Q685J3	MUC17_HUMAN	Y	880	ENSP00000302716:S880Y	ENSP00000302716:S880Y	S	+	2	0	MUC17	100464056	0.002000	0.14202	0.008000	0.14137	0.011000	0.07611	1.558000	0.36309	0.743000	0.32719	0.196000	0.17591	TCT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		179	355	1	0	2.24612e-69	0.000147903	3.72532e-68	179	355		
FBXL13	222235	broad.mit.edu	37	7	102665560	102665560	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:102665560C>T	ENST00000313221.4	-	6	871	c.445G>A	c.(445-447)Gag>Aag	p.E149K	FBXL13_ENST00000379305.3_Missense_Mutation_p.E149K|FBXL13_ENST00000379306.3_Missense_Mutation_p.E149K|FBXL13_ENST00000436908.1_Missense_Mutation_p.E149K|FBXL13_ENST00000455112.2_Missense_Mutation_p.E149K|FBXL13_ENST00000456695.1_Missense_Mutation_p.E149K|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000393772.2_Missense_Mutation_p.E149K|FBXL13_ENST00000379308.3_Missense_Mutation_p.E149K	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	149								p.E149K(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTAGAGTCTCATCTACAAGA	0.328																																						uc003vaq.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(445-447)GAG>AAG		F-box and leucine-rich repeat protein 13 isoform							57.0	56.0	56.0					7																	102665560		2202	4297	6499	SO:0001583	missense	222235							g.chr7:102665560C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.445G>A	7.37:g.102665560C>T	ENSP00000321927:p.Glu149Lys					FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.E149K|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E149K|FBXL13_uc003vav.2_RNA	p.E149K	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			6	872	-			149					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.445G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	3.119	-0.180954	0.06380	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.08008	3.32;3.32;3.14;3.32;3.31;3.31;3.14;3.32	3.9	0.384	0.16244	.	2.166030	0.02363	N	0.077047	T	0.05868	0.0153	N	0.25647	0.755	0.09310	N	1	B;B;B	0.13594	0.006;0.008;0.003	B;B;B	0.08055	0.003;0.002;0.003	T	0.34153	-0.9840	10	0.13853	T	0.58	.	2.6575	0.05016	0.214:0.4685:0.0:0.3175	.	149;149;149	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	K	149;149;149;76;149;149;149;149;149	ENSP00000377367:E149K;ENSP00000368610:E149K;ENSP00000368608:E149K;ENSP00000368607:E149K;ENSP00000388608:E149K;ENSP00000321927:E149K;ENSP00000409716:E149K;ENSP00000391550:E149K	ENSP00000321927:E149K	E	-	1	0	FBXL13	102452796	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.565000	0.05929	-0.044000	0.13491	0.561000	0.74099	GAG		0.328	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1		NM_145032		14	42	0	0	0	0.000219431	0	14	42		
PSMC2	5701	broad.mit.edu	37	7	102988224	102988224	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:102988224C>T	ENST00000435765.1	+	2	477	c.66C>T	c.(64-66)atC>atT	p.I22I	PSMC2_ENST00000292644.3_Silent_p.I22I|DNAJC2_ENST00000412522.1_5'Flank|DNAJC2_ENST00000379263.3_5'Flank|PSMC2_ENST00000544811.1_5'UTR	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ACAAGCCCATCCGAGGTCAGT	0.597																																						uc003vbs.2		NaN																	0					0						c.(64-66)ATC>ATT		proteasome 26S ATPase subunit 2							109.0	96.0	100.0					7																	102988224		2203	4300	6503	SO:0001819	synonymous_variant	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:102988224C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.66C>T	7.37:g.102988224C>T						DNAJC2_uc003vbo.2_5'Flank|DNAJC2_uc010lix.2_5'Flank|DNAJC2_uc003vbp.2_5'Flank|DNAJC2_uc003vbq.1_5'Flank|DNAJC2_uc003vbr.1_5'Flank|PSMC2_uc011kln.1_Silent_p.I22I|PSMC2_uc011klo.1_5'UTR	p.I22I	NM_002803	NP_002794	P35998	PRS7_HUMAN			1	136	+			22					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.66C>T	CCDS5731.1																																																																																				0.597	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		16	64	0	0	0	9.7654e-05	0	16	64		
PUS7	54517	broad.mit.edu	37	7	105098242	105098242	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:105098242G>A	ENST00000356362.2	-	16	2195	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	PUS7_ENST00000469408.1_Missense_Mutation_p.R661C	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	661					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.R661C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ACTGCTCAGCGAAGCCAGGTT	0.448																																					Colon(138;2387 3051 17860)	uc003vcx.2		NaN																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1981-1983)CGC>TGC		pseudouridylate synthase 7 homolog							251.0	228.0	236.0					7																	105098242		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105098242G>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1981C>T	7.37:g.105098242G>A	ENSP00000348722:p.Arg661Cys					PUS7_uc010lji.2_Missense_Mutation_p.R667C|PUS7_uc003vcy.2_Missense_Mutation_p.R661C|PUS7_uc003vcz.1_Missense_Mutation_p.R661C	p.R661C	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			16	2200	-			661					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.1981C>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463168	0.84425	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.52057	0.68;0.68	5.86	5.86	0.93980	.	0.155733	0.64402	D	0.000016	T	0.59390	0.2190	N	0.25647	0.755	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.61043	-0.7142	10	0.87932	D	0	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	661;661	B3KY42;Q96PZ0	.;PUS7_HUMAN	C	661	ENSP00000348722:R661C;ENSP00000417402:R661C	ENSP00000348722:R661C	R	-	1	0	PUS7	104885478	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.845000	0.69437	2.937000	0.99478	0.650000	0.86243	CGC		0.448	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1		NM_019042		67	323	0	0	0	0.000147903	0	67	323		
EXOC4	60412	broad.mit.edu	37	7	133502139	133502139	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:133502139G>C	ENST00000253861.4	+	11	1605	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	EXOC4_ENST00000545148.1_Missense_Mutation_p.E136Q|EXOC4_ENST00000539845.1_Missense_Mutation_p.E425Q|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	526					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCCTCTTCGAGAGTTTCTCAC	0.413																																						uc003vrk.2		NaN																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(1576-1578)GAG>CAG		SEC8 protein isoform a							79.0	73.0	75.0					7																	133502139		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133502139G>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1576G>C	7.37:g.133502139G>C	ENSP00000253861:p.Glu526Gln					EXOC4_uc011kpo.1_Missense_Mutation_p.E425Q|EXOC4_uc003vrl.2_Missense_Mutation_p.E136Q|EXOC4_uc011kpp.1_Missense_Mutation_p.E58Q	p.E526Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			11	1611	+		Esophageal squamous(399;0.129)	526					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1576G>C	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724971	0.48833	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.0	6.0	0.97389	.	0.164624	0.53938	D	0.000055	T	0.47060	0.1425	L	0.38175	1.15	0.80722	D	1	B;B;B	0.31931	0.007;0.008;0.347	B;B;B	0.23018	0.009;0.02;0.043	T	0.40905	-0.9538	9	0.12103	T	0.63	.	20.5595	0.99322	0.0:0.0:1.0:0.0	.	58;136;526	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	Q	526;145;425;136	.	ENSP00000253861:E526Q	E	+	1	0	EXOC4	133152679	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.960000	0.63673	2.868000	0.98415	0.555000	0.69702	GAG		0.413	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807		31	56	0	0	0	0.000109025	0	31	56		
ZNF777	27153	broad.mit.edu	37	7	149129613	149129613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:149129613G>A	ENST00000247930.4	-	6	2073	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTTGTGCCGGAAGCTGATC	0.642																																						uc003wfv.2		NaN																	0				skin(1)	1						c.(1750-1752)CGG>TGG		zinc finger protein 777							59.0	62.0	61.0					7																	149129613		2202	4300	6502	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129613G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1750C>T	7.37:g.149129613G>A	ENSP00000247930:p.Arg584Trp						p.R584W	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1913	-	Melanoma(164;0.165)		584			C2H2-type 2.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1750C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398810	0.62177	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.54071	0.59	4.59	4.59	0.56863	.	0.131272	0.34802	N	0.003676	T	0.65575	0.2704	L	0.56124	1.755	0.35312	D	0.784015	D	0.89917	1.0	D	0.74674	0.984	T	0.73411	-0.3991	10	0.49607	T	0.09	-34.5299	12.7814	0.57479	0.0:0.0:1.0:0.0	.	584	Q9ULD5-2	.	W	584;327	ENSP00000247930:R584W	ENSP00000247930:R584W	R	-	1	2	ZNF777	148760546	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.175000	0.31944	2.376000	0.81061	0.460000	0.39030	CGG		0.642	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		4	40	0	0	0	0.000602214	0	4	40		
PPP3CC	5533	broad.mit.edu	37	8	22398214	22398214	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:22398214C>A	ENST00000240139.5	+	14	1765	c.1438C>A	c.(1438-1440)Cga>Aga	p.R480R	PPP3CC_ENST00000397775.3_Silent_p.R489R|RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000289963.8_Silent_p.R470R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	480					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		AATGCCACCCCGAAAGGATAG	0.517																																						uc003xbs.2		NaN																	0				ovary(1)	1						c.(1438-1440)CGA>AGA		protein phosphatase 3, catalytic subunit, gamma							99.0	97.0	98.0					8																	22398214		2203	4300	6503	SO:0001819	synonymous_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22398214C>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1438C>A	8.37:g.22398214C>A						PPP3CC_uc011kzi.1_Silent_p.R489R|PPP3CC_uc003xbt.2_Silent_p.R470R|PPP3CC_uc011kzj.1_Silent_p.R195R	p.R480R	NM_005605	NP_005596	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	14	1765	+		Prostate(55;0.104)	480					B4DRT5|Q9BSS6|Q9H4M5	Silent	SNP	ENST00000240139.5	37	c.1438C>A	CCDS34859.1																																																																																				0.517	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1		NM_005605		5	94	1	0	0.000602214	0.000602214	0.00908751	5	94		
NRG1	3084	broad.mit.edu	37	8	31498021	31498021	+	Missense_Mutation	SNP	G	G	A	rs567676536		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:31498021G>A	ENST00000520407.1	+	1	751	c.521G>A	c.(520-522)gGc>gAc	p.G174D	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAGCCGGGGGCTTGAAGAAG	0.706																																						uc003xip.2		NaN																	0					0						c.(520-522)GGC>GAC		neuregulin 1 isoform GGF2							14.0	18.0	16.0					8																	31498021		1938	4118	6056	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:31498021G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000520407.1:c.521G>A	8.37:g.31498021G>A	ENSP00000434640:p.Gly174Asp						p.G174D	NM_013962	NP_039256	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	754	+		Breast(100;0.203)	Error:Variant_position_missing_in_Q02297_after_alignment					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000520407.1	37	c.521G>A	CCDS47836.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853909	0.71719	.	.	ENSG00000157168	ENST00000520407;ENST00000523534	D;D	0.85702	-2.02;-1.72	4.39	3.5	0.40072	.	.	.	.	.	D	0.85678	0.5752	.	.	.	0.80722	D	1	D	0.53619	0.961	P	0.48654	0.585	D	0.85229	0.1031	8	0.59425	D	0.04	.	11.2636	0.49097	0.0:0.0:0.8154:0.1846	.	174	Q02297-9	.	D	174;27	ENSP00000434640:G174D;ENSP00000429067:G27D	ENSP00000434640:G174D	G	+	2	0	NRG1	31617563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.896000	0.69822	0.803000	0.34113	0.563000	0.77884	GGC		0.706	NRG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376412.2				4	16	0	0	0	0.000602214	0	4	16		
IDO2	169355	broad.mit.edu	37	8	39806766	39806766	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:39806766C>G	ENST00000389060.4	+	1	82	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.L41V			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	28					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GTATGGCTTTCTTCTTCCAGA	0.383																																						uc010lwy.1		NaN																	0				ovary(2)	2						c.(121-123)CTT>GTT		indoleamine-pyrrole 2,3 dioxygenase-like 1							60.0	58.0	59.0					8																	39806766		1882	4107	5989	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39806766C>G	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.82C>G	8.37:g.39806766C>G	ENSP00000426447:p.Leu28Val					IDO2_uc003xno.1_RNA	p.L41V	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			2	363	+			28					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.121C>G		.	.	.	.	.	.	.	.	.	.	-	3.958	-0.010967	0.07727	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.61392	0.11;0.11	4.92	4.0	0.46444	.	0.373259	0.23849	N	0.043980	T	0.53690	0.1812	M	0.76727	2.345	0.28537	N	0.912308	P	0.37207	0.587	B	0.34180	0.177	T	0.57124	-0.7865	9	.	.	.	.	10.5903	0.45306	0.1909:0.8091:0.0:0.0	.	41	F5H5G0	.	V	41;28	ENSP00000443432:L41V;ENSP00000426447:L28V	.	L	+	1	0	IDO2	39925923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.139000	0.42149	2.550000	0.86006	0.645000	0.84053	CTT		0.383	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1		NM_194294		10	25	0	0	0	0.000442599	0	10	25		
ATP6V1H	51606	broad.mit.edu	37	8	54745646	54745647	+	Splice_Site	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:54745646_54745647CC>AA	ENST00000359530.2	-	3	377	c.114_114GG>TT	c.(112-114)caGG>caTTg	p.Q38H	ATP6V1H_ENST00000355221.3_Splice_Site_p.Q38H|ATP6V1H_ENST00000396774.2_Splice_Site_p.Q38H|ATP6V1H_ENST00000520188.1_5'UTR	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	38					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCATCTGTCCCCTAGAAAGTAA	0.406																																						uc003xrl.2		NaN																	0					0						c.e3-1		ATPase, H+ transporting, lysosomal 50/57kDa, V1																																				SO:0001630	splice_region_variant	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54745646_54745647CC>AA	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.114_114delinsAA	8.37:g.54745646_54745647delinsAA						ATP6V1H_uc003xrk.2_Splice_Site|ATP6V1H_uc003xrm.2_Splice_Site_p.Q38_splice|ATP6V1H_uc003xrn.2_Splice_Site_p.Q38_splice|ATP6V1H_uc011ldv.1_Splice_Site|ATP6V1H_uc010lyd.2_Intron|ATP6V1H_uc003xro.1_Splice_Site_p.Q35_splice	p.Q38_splice	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		3	266	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)						B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Splice_Site	DNP	ENST00000359530.2	37	c.114_splice	CCDS6153.1																																																																																				0.406	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1		NM_015941	Missense_Mutation	9	250	0	0	0	6.4e-05	0	9	250		
IMPA1	3612	broad.mit.edu	37	8	82593018	82593018	+	Splice_Site	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:82593018C>A	ENST00000256108.5	-	3	529	c.64G>T	c.(64-66)Gta>Tta	p.V22L	IMPA1_ENST00000311489.4_Splice_Site_p.V22L|IMPA1_ENST00000523710.1_Intron|IMPA1_ENST00000449740.2_Splice_Site_p.V81L	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	22					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCACAAACTACCTAAAAAGAG	0.274																																						uc003ych.2		NaN																	0				skin(1)	1						c.(64-66)GTA>TTA		inositol(myo)-1(or 4)-monophosphatase 1 isoform	Lithium(DB01356)						61.0	62.0	62.0					8																	82593018		2203	4299	6502	SO:0001630	splice_region_variant	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82593018C>A		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.64-1G>T	8.37:g.82593018C>A						IMPA1_uc011lfq.1_Missense_Mutation_p.V81L|IMPA1_uc011lfr.1_Missense_Mutation_p.V22L	p.V22L	NM_005536	NP_005527	P29218	IMPA1_HUMAN			3	191	-			22					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.64G>T	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.535|3.535	-0.094830|-0.094830	0.07010|0.07010	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000523942|ENST00000256108;ENST00000311489;ENST00000449740;ENST00000521360;ENST00000522997;ENST00000518202	.|T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;1.11;0.71;0.71	4.56|4.56	0.527|0.527	0.17084|0.17084	.|.	.|0.352416	.|0.32357	.|N	.|0.006211	T|T	0.27489|0.27489	0.0675|0.0675	N|N	0.20807|0.20807	0.61|0.61	0.35947|0.35947	D|D	0.833652|0.833652	.|B;B;B	.|0.09022	.|0.001;0.002;0.001	.|B;B;B	.|0.13407	.|0.004;0.009;0.004	T|T	0.18241|0.18241	-1.0343|-1.0343	5|10	.|0.17369	.|T	.|0.5	-0.0165|-0.0165	10.0977|10.0977	0.42486|0.42486	0.0:0.6036:0.0:0.3964|0.0:0.6036:0.0:0.3964	.|.	.|22;81;22	.|B4DLN3;B7Z6Q4;P29218	.|.;.;IMPA1_HUMAN	V|L	46|22;22;81;22;81;22	.|ENSP00000256108:V22L;ENSP00000311803:V22L;ENSP00000408526:V81L;ENSP00000430283:V22L;ENSP00000430081:V81L;ENSP00000429516:V22L	.|ENSP00000256108:V22L	G|V	-|-	2|1	0|0	IMPA1|IMPA1	82755573|82755573	0.998000|0.998000	0.40836|0.40836	0.837000|0.837000	0.33122|0.33122	0.077000|0.077000	0.17291|0.17291	0.550000|0.550000	0.23345|0.23345	0.105000|0.105000	0.17753|0.17753	0.542000|0.542000	0.68232|0.68232	GGT|GTA		0.274	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			Missense_Mutation	17	157	1	0	5.01169e-05	0.000566183	0.000771019	17	157		
TRPS1	7227	broad.mit.edu	37	8	116599486	116599487	+	Missense_Mutation	DNP	CC	CC	AA	rs146506752	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:116599486_116599487CC>AA	ENST00000220888.5	-	4	2561_2562	c.2402_2403GG>TT	c.(2401-2403)cGG>cTT	p.R801L	TRPS1_ENST00000520276.1_Missense_Mutation_p.R805L|TRPS1_ENST00000395715.3_Missense_Mutation_p.R814L|TRPS1_ENST00000519076.1_Missense_Mutation_p.R555L|TRPS1_ENST00000519674.1_Missense_Mutation_p.R801L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	801	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACGGACTCCCCCGCAGGATGTC	0.559									Langer-Giedion syndrome																													uc003ynz.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	GRCh37	CM051657	TRPS1	M	rs146506752	c.(2401-2403)CGG>CTT		zinc finger transcription factor TRPS1																																				SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599486_116599487CC>AA	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2402_2403delinsAA	8.37:g.116599486_116599487delinsAA	ENSP00000220888:p.Arg801Leu					TRPS1_uc011lhy.1_Missense_Mutation_p.R805L|TRPS1_uc003yny.2_Missense_Mutation_p.R814L|TRPS1_uc010mcy.2_Missense_Mutation_p.R801L	p.R801L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2861_2862	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		801			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	DNP	ENST00000220888.5	37	c.2402_2403GG>TT																																																																																					0.559	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		13	343	0	0	0	6.4e-05	0	13	343		
COL14A1	7373	broad.mit.edu	37	8	121290778	121290778	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:121290778G>C	ENST00000297848.3	+	28	3712	c.3442G>C	c.(3442-3444)Gat>Cat	p.D1148H	COL14A1_ENST00000247781.3_Missense_Mutation_p.D1053H|COL14A1_ENST00000309791.4_Missense_Mutation_p.D1148H	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATCACAAGATGATGTGAA	0.358																																						uc003yox.2		NaN																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3442-3444)GAT>CAT		collagen, type XIV, alpha 1 precursor							98.0	87.0	90.0					8																	121290778		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290778G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3442G>C	8.37:g.121290778G>C	ENSP00000297848:p.Asp1148His					COL14A1_uc003yoz.2_Missense_Mutation_p.D113H	p.D1148H	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		28	3707	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1148			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3442G>C	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039655	0.93630	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.85339	-1.97;-1.97;-1.97	5.47	5.47	0.80525	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95945	0.8950	10	0.72032	D	0.01	.	19.6901	0.95998	0.0:0.0:1.0:0.0	.	1148	Q05707	COEA1_HUMAN	H	1148;1148;1053	ENSP00000311809:D1148H;ENSP00000297848:D1148H;ENSP00000247781:D1053H	ENSP00000247781:D1053H	D	+	1	0	COL14A1	121359959	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.767000	0.98960	2.718000	0.92993	0.637000	0.83480	GAT		0.358	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		NM_021110		45	40	0	0	0	0.000147903	0	45	40		
HAS2	3037	broad.mit.edu	37	8	122626946	122626946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:122626946C>T	ENST00000303924.4	-	4	1599	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	354					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGACTTGCTCCAACGGGTCT	0.448																																						uc003yph.2		NaN																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1060-1062)TGG>TGA		hyaluronan synthase 2							160.0	138.0	145.0					8																	122626946		2203	4300	6503	SO:0001587	stop_gained	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626946C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1062G>A	8.37:g.122626946C>T	ENSP00000306991:p.Trp354*						p.W354*	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1600	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		354			Cytoplasmic (Potential).		Q32MM3	Nonsense_Mutation	SNP	ENST00000303924.4	37	c.1062G>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	41	9.040944	0.99046	.	.	ENSG00000170961	ENST00000303924	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.616	20.5385	0.99246	0.0:1.0:0.0:0.0	.	.	.	.	X	354	.	ENSP00000306991:W354X	W	-	3	0	HAS2	122696127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.801000	0.85960	2.863000	0.98299	0.549000	0.68633	TGG		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2		NM_005328		28	118	0	0	0	0.000117367	0	28	118		
FER1L6	654463	broad.mit.edu	37	8	125058101	125058102	+	Missense_Mutation	DNP	CC	CC	AA	rs558657749		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:125058101_125058102CC>AA	ENST00000522917.1	+	21	2889_2890	c.2683_2684CC>AA	c.(2683-2685)CCg>AAg	p.P895K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P895K|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	895	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCAGAGTCCCCGCCCTTAGTG	0.55																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2683-2685)CCG>AAG		fer-1-like 6																																				SO:0001583	missense	654463					integral to membrane		g.chr8:125058101_125058102CC>AA	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	Exception_encountered	8.37:g.125058101_125058102delinsAA	ENSP00000428280:p.Pro895Lys						p.P895K	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		21	2889_2890	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		895			Cytoplasmic (Potential).|C2 3.			Missense_Mutation	DNP	ENST00000522917.1	37	c.2683_2684CC>AA	CCDS43767.1																																																																																				0.550	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		11	342	0	0	0	6.4e-05	0	11	342		
DENND3	22898	broad.mit.edu	37	8	142200469	142200469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:142200469G>A	ENST00000262585.2	+	20	3370	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	DENND3_ENST00000523308.1_Missense_Mutation_p.R81Q|DENND3_ENST00000424248.1_Missense_Mutation_p.R979Q|DENND3_ENST00000519811.1_Missense_Mutation_p.R1111Q	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1031					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)			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)			CAGCTGCCGCGAGGTGGCCTG	0.642																																						uc003yvy.2		NaN																	0				ovary(1)	1						c.(3091-3093)CGA>CAA		DENN/MADD domain containing 3							51.0	47.0	48.0					8																	142200469		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142200469G>A	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.3092G>A	8.37:g.142200469G>A	ENSP00000262585:p.Arg1031Gln					DENND3_uc010mep.2_Missense_Mutation_p.R992Q|DENND3_uc003ywa.1_Missense_Mutation_p.R81Q|DENND3_uc003ywb.2_Missense_Mutation_p.R81Q	p.R1031Q	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		20	3370	+	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)		1031					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.3092G>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581554	0.28180	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	T;T;T;T	0.35605	1.61;1.61;1.61;1.3	5.31	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.631472	0.19019	N	0.124864	T	0.18383	0.0441	N	0.08118	0	0.09310	N	1	B;P;B	0.44690	0.014;0.841;0.014	B;B;B	0.36186	0.001;0.219;0.0	T	0.04115	-1.0976	10	0.35671	T	0.21	-27.0546	13.0421	0.58906	0.0791:0.0:0.9209:0.0	.	1111;81;1031	E9PF32;A2RUS2-3;A2RUS2	.;.;DEND3_HUMAN	Q	1031;979;1111;81	ENSP00000262585:R1031Q;ENSP00000410594:R979Q;ENSP00000428714:R1111Q;ENSP00000430912:R81Q	ENSP00000262585:R1031Q	R	+	2	0	DENND3	142269651	0.921000	0.31238	0.002000	0.10522	0.002000	0.02628	5.431000	0.66507	1.203000	0.43233	0.313000	0.20887	CGA		0.642	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014957		14	39	0	0	0	0.000308642	0	14	39		
ZNF623	9831	broad.mit.edu	37	8	144732979	144732979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144732979C>G	ENST00000501748.2	+	1	1026	c.937C>G	c.(937-939)Cac>Gac	p.H313D	ZNF623_ENST00000458270.2_Missense_Mutation_p.H273D|ZNF623_ENST00000526926.1_Missense_Mutation_p.H273D	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGAGAATTCACACCGGAGA	0.468																																						uc003yzd.2		NaN																	0					0						c.(937-939)CAC>GAC		zinc finger protein 623 isoform 1							90.0	86.0	87.0					8																	144732979		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732979C>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.937C>G	8.37:g.144732979C>G	ENSP00000445979:p.His313Asp					ZNF623_uc011lkp.1_Missense_Mutation_p.H273D|ZNF623_uc003yzc.2_Missense_Mutation_p.H273D	p.H313D	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1026	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		313			C2H2-type 7.		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.937C>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276980	0.59758	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.67698	-0.28;-0.28;-0.28	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85531	0.5718	M	0.93420	3.415	0.43782	D	0.99631	D	0.89917	1.0	D	0.91635	0.999	D	0.89374	0.3677	9	0.87932	D	0	-21.5257	14.5465	0.68035	0.0:1.0:0.0:0.0	.	313	O75123	ZN623_HUMAN	D	273;273;273;313;313	ENSP00000435232:H273D;ENSP00000411139:H273D;ENSP00000445979:H313D	ENSP00000330358:H273D	H	+	1	0	ZNF623	144804122	1.000000	0.71417	0.829000	0.32907	0.361000	0.29550	7.429000	0.80309	2.359000	0.80004	0.655000	0.94253	CAC		0.468	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3		NM_014789		58	72	0	0	0	0.000147903	0	58	72		
PLEC	5339	broad.mit.edu	37	8	144993101	144993101	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144993101C>G	ENST00000322810.4	-	32	11468	c.11299G>C	c.(11299-11301)Gag>Cag	p.E3767Q	PLEC_ENST00000357649.2_Missense_Mutation_p.E3634Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3598Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3630Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3616Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3630Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3608Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3657Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3653Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3767	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGATGATCTCTGTCTTCTCA	0.612																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11299-11301)GAG>CAG		plectin isoform 1							55.0	63.0	61.0					8																	144993101		2173	4260	6433	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993101C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11299G>C	8.37:g.144993101C>G	ENSP00000323856:p.Glu3767Gln					PLEC_uc003zab.1_Missense_Mutation_p.E3630Q|PLEC_uc003zac.1_Missense_Mutation_p.E3634Q|PLEC_uc003zad.2_Missense_Mutation_p.E3630Q|PLEC_uc003zae.1_Missense_Mutation_p.E3598Q|PLEC_uc003zag.1_Missense_Mutation_p.E3608Q|PLEC_uc003zah.2_Missense_Mutation_p.E3616Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3657Q	p.E3767Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11469	-			3767			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11299G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	8.967	0.972103	0.18736	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.83755	-1.73;-1.73;-1.76;-1.75;-1.73;-1.72;-1.72;-1.71;-1.72	4.25	4.25	0.50352	.	0.000000	0.64402	U	0.000012	D	0.91074	0.7191	M	0.80616	2.505	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.996;0.991;0.996;0.996;0.996;0.996	D	0.92441	0.5962	10	0.66056	D	0.02	.	16.4269	0.83817	0.0:1.0:0.0:0.0	.	3657;3616;3608;3767;3598;3630;3634;3630	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3630;3634;3630;3598;3767;3608;3616;3657;3653	ENSP00000344848:E3630Q;ENSP00000350277:E3634Q;ENSP00000346602:E3630Q;ENSP00000381756:E3598Q;ENSP00000323856:E3767Q;ENSP00000347044:E3608Q;ENSP00000348702:E3616Q;ENSP00000388180:E3657Q;ENSP00000434583:E3653Q	ENSP00000323856:E3767Q	E	-	1	0	PLEC	145065089	1.000000	0.71417	0.901000	0.35422	0.151000	0.21798	7.495000	0.81514	2.199000	0.70637	0.448000	0.29417	GAG		0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		21	115	0	0	0	0.000586117	0	21	115		
PLEC	5339	broad.mit.edu	37	8	144994322	144994322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144994322C>A	ENST00000322810.4	-	32	10247	c.10078G>T	c.(10078-10080)Gag>Tag	p.E3360*	PLEC_ENST00000357649.2_Nonsense_Mutation_p.E3227*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E3191*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E3223*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E3209*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E3223*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E3201*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E3250*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E3246*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3360	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGTAGAGCTCCTCCTGCCGG	0.677																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10078-10080)GAG>TAG		plectin isoform 1							19.0	21.0	21.0					8																	144994322		1877	4084	5961	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144994322C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10078G>T	8.37:g.144994322C>A	ENSP00000323856:p.Glu3360*					PLEC_uc003zab.1_Nonsense_Mutation_p.E3223*|PLEC_uc003zac.1_Nonsense_Mutation_p.E3227*|PLEC_uc003zad.2_Nonsense_Mutation_p.E3223*|PLEC_uc003zae.1_Nonsense_Mutation_p.E3191*|PLEC_uc003zag.1_Nonsense_Mutation_p.E3201*|PLEC_uc003zah.2_Nonsense_Mutation_p.E3209*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E3250*	p.E3360*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10248	-			3360			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.10078G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	50	17.095928	0.99879	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.05	3.14	0.36123	.	0.616861	0.13994	U	0.348592	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.4271	0.61032	0.0:0.8407:0.1593:0.0	.	.	.	.	X	3223;3227;3223;3191;3360;3201;3209;3250;3246	.	ENSP00000323856:E3360X	E	-	1	0	PLEC	145066310	0.705000	0.27846	0.998000	0.56505	0.551000	0.35334	0.810000	0.27183	0.986000	0.38683	0.393000	0.25936	GAG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		10	56	1	0	3.86212e-05	3.86212e-05	0.000597493	10	56		
PTPRD	5789	broad.mit.edu	37	9	8500790	8500790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:8500790C>T	ENST00000381196.4	-	21	2635	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.E685K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E685K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E698K|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.E698K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	698	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACAAGCTCTCAGGGCCAGGG	0.483										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2092-2094)GAG>AAG		protein tyrosine phosphatase, receptor type, D							204.0	184.0	191.0					9																	8500790		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8500790C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2092G>A	9.37:g.8500790C>T	ENSP00000370593:p.Glu698Lys	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.E698K|PTPRD_uc003zkm.2_Missense_Mutation_p.E685K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.E698K	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	23	2803	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	698			Fibronectin type-III 4.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2092G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981917	0.93044	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	L	0.39467	1.215	0.80722	D	1	P;D;P	0.69078	0.763;0.997;0.662	P;D;P	0.79108	0.511;0.992;0.643	T	0.55780	-0.8087	9	.	.	.	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	685;698;698	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	K	698;698;685;685;698	ENSP00000370593:E698K;ENSP00000348812:E698K;ENSP00000353187:E685K;ENSP00000351293:E685K;ENSP00000438164:E698K	.	E	-	1	0	PTPRD	8490790	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.484000	0.81180	2.746000	0.94184	0.563000	0.77884	GAG		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				40	43	0	0	0	0.000437636	0	40	43		
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	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.S167S(19)		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)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					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		19	Substitution - coding silent(19)		lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	lung(2)|ovary(1)	3						c.(499-501)AGT>AGC		myeloid/lymphoid or mixed-lineage leukemia							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	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.501T>C	9.37:g.20414343A>G						MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	p.S167S	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	760	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		4	40	0	0	0	0.00024832	0	4	40		
AQP7	364	broad.mit.edu	37	9	33386406	33386406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:33386406G>C	ENST00000537089.1	-	4	444	c.126C>G	c.(124-126)ttC>ttG	p.F42L	AQP7_ENST00000539936.1_Missense_Mutation_p.F134L|AQP7_ENST00000541274.1_Missense_Mutation_p.F42L|AQP7_ENST00000377425.4_Missense_Mutation_p.F77L			O14520	AQP7_HUMAN	aquaporin 7	134					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACTCACTGTAGAAGAGACTGT	0.577																																						uc003zst.2		NaN																	0					0						c.(400-402)TTC>TTG		aquaporin 7							15.0	17.0	16.0					9																	33386406		2202	4290	6492	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33386406G>C	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.126C>G	9.37:g.33386406G>C	ENSP00000441619:p.Phe42Leu					SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.F77L|AQP7_uc010mjs.2_Missense_Mutation_p.F42L|AQP7_uc010mjt.2_Missense_Mutation_p.F42L|AQP7_uc011lnx.1_Missense_Mutation_p.F134L|AQP7_uc011lny.1_Missense_Mutation_p.F133L|AQP7_uc003zss.3_Missense_Mutation_p.F42L|AQP7_uc011lnz.1_Missense_Mutation_p.F42L|AQP7_uc011loa.1_Missense_Mutation_p.F42L	p.F134L	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	574	-			134			Helical; (Potential).		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.402C>G		.	.	.	.	.	.	.	.	.	.	-	14.82	2.650163	0.47362	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000541274;ENST00000379503	T;T;T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	4.42	3.52	0.40303	Aquaporin-like (2);	0.162087	0.56097	D	0.000023	T	0.23054	0.0557	M	0.70275	2.135	0.40376	D	0.979392	D;B;B;B;P	0.61080	0.989;0.27;0.236;0.135;0.803	P;B;B;B;B	0.62298	0.9;0.115;0.173;0.115;0.179	T	0.01030	-1.1475	10	0.87932	D	0	-29.7338	5.0459	0.14483	0.1051:0.0:0.6857:0.2092	.	42;133;134;77;134	B7Z7F6;Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;.;AQP7_HUMAN	L	42;133;2;134;77;42;133;134;42;70	ENSP00000441619:F42L;ENSP00000368821:F133L;ENSP00000412868:F2L;ENSP00000297988:F134L;ENSP00000396111:F77L;ENSP00000410138:F42L;ENSP00000368820:F133L;ENSP00000439534:F134L;ENSP00000438860:F42L;ENSP00000368817:F70L	ENSP00000297988:F134L	F	-	3	2	AQP7	33376406	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	2.836000	0.48183	2.472000	0.83506	0.645000	0.84053	TTC		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding			NM_001170		4	23	0	0	0	0.00024832	0	4	23		
AQP7	364	broad.mit.edu	37	9	33387057	33387057	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:33387057G>C	ENST00000539936.1	-	4	416	c.178C>G	c.(178-180)Cta>Gta	p.L60V	AQP7_ENST00000537089.1_Intron|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.L3V			O14520	AQP7_HUMAN	aquaporin 7	60					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTTTTATTTAGAACCATATGG	0.567																																						uc003zst.2		NaN																	0					0						c.(178-180)CTA>GTA		aquaporin 7							70.0	68.0	69.0					9																	33387057		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33387057G>C	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.178C>G	9.37:g.33387057G>C	ENSP00000439534:p.Leu60Val					SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.L3V|AQP7_uc010mjs.2_Intron|AQP7_uc010mjt.2_Intron|AQP7_uc011lnx.1_Missense_Mutation_p.L60V|AQP7_uc011lny.1_Missense_Mutation_p.L59V|AQP7_uc003zss.3_Intron|AQP7_uc011lnz.1_Intron|AQP7_uc011loa.1_Intron	p.L60V	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	4	350	-			60			Extracellular (Potential).		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.178C>G		.	.	.	.	.	.	.	.	.	.	g	12.30	1.896590	0.33442	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000377425;ENST00000379506;ENST00000539936	D;D;T;D;D	0.85088	-1.94;-1.94;2.6;-1.94;-1.94	3.27	1.29	0.21616	Aquaporin-like (2);	0.720111	0.13283	N	0.399561	D	0.83275	0.5219	M	0.64260	1.97	0.39415	D	0.966814	B;B;B;B	0.31581	0.148;0.035;0.329;0.148	B;B;B;B	0.41619	0.168;0.168;0.361;0.344	T	0.77975	-0.2385	10	0.56958	D	0.05	-3.3327	3.8446	0.08930	0.2359:0.2036:0.5605:0.0	.	59;60;3;60	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	V	59;60;3;59;60	ENSP00000368821:L59V;ENSP00000297988:L60V;ENSP00000396111:L3V;ENSP00000368820:L59V;ENSP00000439534:L60V	ENSP00000297988:L60V	L	-	1	2	AQP7	33377057	0.124000	0.22315	0.989000	0.46669	0.789000	0.44602	0.403000	0.20982	0.199000	0.20427	0.550000	0.68814	CTA		0.567	AQP7-203	KNOWN	basic	protein_coding	protein_coding			NM_001170		5	50	0	0	0	3.59834e-05	0	5	50		
ANKRD20A4	728747	broad.mit.edu	37	9	69420374	69420375	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:69420374_69420375GG>TT	ENST00000357336.3	+	13	1545_1546	c.1264_1265GG>TT	c.(1264-1266)GGg>TTg	p.G422L		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	422										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAGAAAGATTGGGAAAACGTAT	0.342																																						uc004afn.2		NaN																	0					0						c.(1264-1266)GGG>TTG		ankyrin repeat domain 20 family, member A4																																				SO:0001583	missense	728747							g.chr9:69420374_69420375GG>TT		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	Exception_encountered	9.37:g.69420374_69420375delinsTT	ENSP00000349891:p.Gly422Leu						p.G422L	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN			13	1376_1377	+			422						Missense_Mutation	DNP	ENST00000357336.3	37	c.1264_1265GG>TT	CCDS43828.1																																																																																				0.342	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3		NM_001098805		9	354	0	0	0	6.4e-05	0	9	354		
APBA1	320	broad.mit.edu	37	9	72047530	72047530	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:72047530G>A	ENST00000265381.4	-	12	2586	c.2364C>T	c.(2362-2364)atC>atT	p.I788I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	788	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGATTTCAATGATCCGGTGCC	0.582																																						uc004ahh.2		NaN																	0				lung(1)	1						c.(2362-2364)ATC>ATT		amyloid beta A4 precursor protein-binding,							93.0	77.0	83.0					9																	72047530		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72047530G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2364C>T	9.37:g.72047530G>A							p.I788I	NM_001163	NP_001154	Q02410	APBA1_HUMAN			12	2640	-			788			PDZ 2.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.2364C>T	CCDS6630.1																																																																																				0.582	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2		NM_001163		51	6	0	0	0	0.000147903	0	51	6		
RASEF	158158	broad.mit.edu	37	9	85677430	85677430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:85677430G>T	ENST00000376447.3	-	1	613	c.353C>A	c.(352-354)tCg>tAg	p.S118*	RASEF_ENST00000340717.4_Nonsense_Mutation_p.S118*	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	118					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.S118L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CGGGCCGCACGAGGTGGCCAG	0.721																																						uc004amo.1		NaN																	1	Substitution - Missense(1)	p.S118L(1)	breast(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(352-354)TCG>TAG		RAS and EF-hand domain containing							7.0	11.0	10.0					9																	85677430		2018	4099	6117	SO:0001587	stop_gained	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85677430G>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.353C>A	9.37:g.85677430G>T	ENSP00000365630:p.Ser118*					RASEF_uc004amp.1_Nonsense_Mutation_p.S118*	p.S118*	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			1	614	-			118					A6NC29|Q96N04	Nonsense_Mutation	SNP	ENST00000376447.3	37	c.353C>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	37	6.214660	0.97380	.	.	ENSG00000165105	ENST00000376447;ENST00000340717	.	.	.	3.97	-0.145	0.13436	.	0.972538	0.08444	N	0.945044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1847	0.10392	0.1872:0.0:0.4972:0.3156	.	.	.	.	X	118	.	ENSP00000345651:S118X	S	-	2	0	RASEF	84867250	0.000000	0.05858	0.001000	0.08648	0.237000	0.25408	-0.244000	0.08903	-0.235000	0.09767	0.467000	0.42956	TCG		0.721	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1		NM_152573		13	19	1	0	2.23348e-06	0.000422831	3.49449e-05	13	19		
COL15A1	1306	broad.mit.edu	37	9	101800955	101800955	+	Missense_Mutation	SNP	G	G	C	rs139652646	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:101800955G>C	ENST00000375001.3	+	22	2838	c.2415G>C	c.(2413-2415)ttG>ttC	p.L805F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	805	Nonhelical region 4 (NC4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCAGTCCTTGATCAATATCA	0.463																																						uc004azb.1		NaN																	0				ovary(6)	6						c.(2413-2415)TTG>TTC		alpha 1 type XV collagen precursor							277.0	235.0	249.0					9																	101800955		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101800955G>C	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2415G>C	9.37:g.101800955G>C	ENSP00000364140:p.Leu805Phe						p.L805F	NM_001855	NP_001846	P39059	COFA1_HUMAN			22	2621	+		Acute lymphoblastic leukemia(62;0.0562)	805			Nonhelical region 4 (NC4).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2415G>C	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228645	0.39399	.	.	ENSG00000204291	ENST00000375001	D	0.90197	-2.63	4.79	2.75	0.32379	.	0.354971	0.29119	N	0.013099	T	0.81460	0.4827	L	0.28274	0.84	0.30710	N	0.74937	B	0.21309	0.054	B	0.20767	0.031	T	0.73547	-0.3948	10	0.27082	T	0.32	-0.073	7.2529	0.26160	0.0:0.1889:0.6158:0.1953	.	805	P39059	COFA1_HUMAN	F	805	ENSP00000364140:L805F	ENSP00000364140:L805F	L	+	3	2	COL15A1	100840776	0.806000	0.28996	1.000000	0.80357	0.989000	0.77384	0.339000	0.19875	1.323000	0.45263	0.655000	0.94253	TTG		0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3		NM_001855		37	228	0	0	0	0.000437636	0	37	228		
ERP44	23071	broad.mit.edu	37	9	102861077	102861077	+	Missense_Mutation	SNP	G	G	A	rs140289515		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:102861077G>A	ENST00000262455.6	-	1	245	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F	INVS_ENST00000374921.3_5'Flank|INVS_ENST00000262457.2_5'Flank|INVS_ENST00000541287.1_5'Flank|INVS_ENST00000262456.2_5'Flank	NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	16					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGGAGCAGAAGGGAGCATCTG	0.637																																						uc004bam.2		NaN																	0					0						c.(46-48)CTT>TTT		thioredoxin domain containing 4 (endoplasmic							158.0	126.0	137.0					9																	102861077		2203	4300	6503	SO:0001583	missense	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102861077G>A	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.46C>T	9.37:g.102861077G>A	ENSP00000262455:p.Leu16Phe					ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.L16F|INVS_uc010mta.1_5'Flank|INVS_uc011lve.1_5'Flank|INVS_uc004bao.1_5'Flank|INVS_uc004bap.1_5'Flank|INVS_uc004baq.1_5'Flank|INVS_uc004bar.1_5'Flank|INVS_uc010mtb.1_5'Flank	p.L16F	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN			1	254	-			16					O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	c.46C>T	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377931	0.42105	.	.	ENSG00000023318	ENST00000262455	T	0.08984	3.03	4.99	1.99	0.26369	.	0.756394	0.12748	N	0.442415	T	0.04272	0.0118	N	0.10809	0.05	0.30090	N	0.808399	B	0.32968	0.392	B	0.31290	0.127	T	0.34850	-0.9812	10	0.37606	T	0.19	-2.1428	6.554	0.22450	0.0984:0.3537:0.5479:0.0	.	16	Q9BS26	ERP44_HUMAN	F	16	ENSP00000262455:L16F	ENSP00000262455:L16F	L	-	1	0	ERP44	101900898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.371000	0.20450	0.317000	0.23160	0.591000	0.81541	CTT		0.637	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1		XM_088476		6	36	0	0	0	3.59834e-05	0	6	36		
LAMC3	10319	broad.mit.edu	37	9	133945103	133945103	+	Missense_Mutation	SNP	G	G	A	rs377457257		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:133945103G>A	ENST00000361069.4	+	17	3068	c.2935G>A	c.(2935-2937)Gag>Aag	p.E979K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	979	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.			E -> Y (in Ref. 1; AAD36991). {ECO:0000305}.	astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGTGCCACGAGAACGGCAC	0.662																																						uc004caa.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(2935-2937)GAG>AAG		laminin, gamma 3 precursor		G	LYS/GLU	0,4402		0,0,2201	39.0	30.0	33.0		2935	4.1	1.0	9		33	1,8597		0,1,4298	no	missense	LAMC3	NM_006059.3	56	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	979/1576	133945103	1,12999	2201	4299	6500	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133945103G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2935G>A	9.37:g.133945103G>A	ENSP00000354360:p.Glu979Lys						p.E979K	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	17	3033	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	979	E -> Y (in Ref. 1; AAD36991).		Laminin EGF-like 11.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2935G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765715	0.49574	0.0	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.61040	0.14	4.99	4.09	0.47781	EGF-like, laminin (3);	0.313423	0.34555	N	0.003875	T	0.47507	0.1449	L	0.40543	1.245	0.36121	D	0.845468	B	0.28350	0.208	B	0.24269	0.052	T	0.55617	-0.8113	10	0.51188	T	0.08	.	12.6128	0.56560	0.0806:0.0:0.9194:0.0	.	979	Q9Y6N6	LAMC3_HUMAN	K	979	ENSP00000354360:E979K	ENSP00000347156:E979K	E	+	1	0	LAMC3	132934924	1.000000	0.71417	0.997000	0.53966	0.602000	0.36980	4.284000	0.58983	1.096000	0.41439	0.650000	0.86243	GAG		0.662	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059		14	13	0	0	0	0.000151284	0	14	13		
COL5A1	1289	broad.mit.edu	37	9	137591828	137591828	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:137591828C>T	ENST00000371817.3	+	3	765	c.351C>T	c.(349-351)gtC>gtT	p.V117V	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	117	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTTCCTGGTCTCCATCTACA	0.587																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(349-351)GTC>GTT		alpha 1 type V collagen preproprotein							94.0	93.0	94.0					9																	137591828		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591828C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.351C>T	9.37:g.137591828C>T							p.V117V	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	733	+		Myeloproliferative disorder(178;0.0341)	117			TSP N-terminal.|Laminin G-like.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.351C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		13	83	0	0	0	0.000151284	0	13	83		
ASMTL	8623	broad.mit.edu	37	X	1540663	1540663	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:1540663A>G	ENST00000381317.3	-	9	1165	c.1133T>C	c.(1132-1134)aTg>aCg	p.M378T	ASMTL_ENST00000534940.1_Missense_Mutation_p.M320T|ASMTL_ENST00000381333.4_Missense_Mutation_p.M362T|ASMTL_ENST00000416733.2_Missense_Mutation_p.M302T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	378	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATTATTGTGCATGATGAAGCC	0.522																																						uc004cpx.1		NaN																	0					0						c.(1132-1134)ATG>ACG		acetylserotonin O-methyltransferase-like							407.0	407.0	407.0					X																	1540663		2047	4194	6241	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1540663A>G	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1133T>C	X.37:g.1540663A>G	ENSP00000370718:p.Met378Thr					ASMTL_uc011mhe.1_Missense_Mutation_p.M302T|ASMTL_uc004cpy.1_Missense_Mutation_p.M362T|ASMTL_uc011mhf.1_Missense_Mutation_p.M320T	p.M378T	NM_004192	NP_004183	O95671	ASML_HUMAN			9	1244	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	378			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.1133T>C	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.543874	0.00934	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	1.58	-3.16	0.05217	O-methyltransferase, family 2 (1);	0.679385	0.12827	N	0.435929	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.16289	0.015;0.013;0.009	T	0.35500	-0.9786	10	0.13470	T	0.59	.	3.6758	0.08291	0.6779:0.0:0.1298:0.1923	.	302;362;378	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	T	302;320;362;378	ENSP00000410578:M302T;ENSP00000446410:M320T;ENSP00000370734:M362T;ENSP00000370718:M378T	ENSP00000370718:M378T	M	-	2	0	ASMTL	1500663	0.073000	0.21202	0.000000	0.03702	0.027000	0.11550	0.273000	0.18662	-1.534000	0.01743	0.084000	0.15446	ATG		0.522	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		NM_004192		11	522	0	0	0	3.86212e-05	0	11	522		
TLR8	51311	broad.mit.edu	37	X	12937404	12937404	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:12937404C>G	ENST00000218032.6	+	2	332	c.245C>G	c.(244-246)tCa>tGa	p.S82*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.S100*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	82					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACGAATGAATCATTTCAAGGG	0.413																																						uc004cve.2		NaN																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(244-246)TCA>TGA		toll-like receptor 8 precursor							110.0	106.0	107.0					X																	12937404		2203	4300	6503	SO:0001587	stop_gained	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937404C>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.245C>G	X.37:g.12937404C>G	ENSP00000218032:p.Ser82*					TLR8_uc004cvd.2_Nonsense_Mutation_p.S100*	p.S82*	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	313	+			82			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Nonsense_Mutation	SNP	ENST00000218032.6	37	c.245C>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195431	0.94960	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	.	.	.	5.2	5.2	0.72013	.	0.000000	0.34628	N	0.003820	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.675	0.62449	0.1549:0.8451:0.0:0.0	.	.	.	.	X	82;100	.	ENSP00000218032:S82X	S	+	2	0	TLR8	12847325	0.086000	0.21541	0.178000	0.23040	0.863000	0.49368	1.719000	0.38011	2.179000	0.69175	0.523000	0.50628	TCA		0.413	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2		NM_016610		5	187	0	0	0	0.000602214	0	5	187		
ZRSR2	8233	broad.mit.edu	37	X	15838418	15838419	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:15838418_15838419CG>AT	ENST00000307771.7	+	10	940_941	c.916_917CG>AT	c.(916-918)CGg>ATg	p.R306M		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	306					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CCCCGTGACCCGGTGGAAAATG	0.441			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	uc004cxg.3		NaN		Rec	yes		X	Xp22.1	8233		"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L					0				breast(3)	3						c.(916-918)CGG>ATG		U2 small nuclear RNA auxiliary factor 1-like 2																																				SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15838418_15838419CG>AT	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	Exception_encountered	X.37:g.15838418_15838419delinsAT	ENSP00000303015:p.Arg306Met						p.R306M	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			10	961_962	+	Hepatocellular(33;0.183)		306			C3H1-type 2.		Q14D69	Missense_Mutation	DNP	ENST00000307771.7	37	c.916_917CG>AT	CCDS14172.1																																																																																				0.441	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1		NM_005089		7	213	0	0	0	6.4e-05	0	7	213		
NUDT10	170685	broad.mit.edu	37	X	51075911	51075911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:51075911G>A	ENST00000376006.3	+	2	314	c.94G>A	c.(94-96)Gag>Aag	p.E32K	NUDT10_ENST00000356450.2_Missense_Mutation_p.E32K	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GCGCGAGGACGAGGTCCTGTT	0.687																																					NSCLC(90;1817 2035 37909 38249)	uc004dph.2		NaN																	0					0						c.(94-96)GAG>AAG		nudix-type motif 10							34.0	31.0	32.0					X																	51075911		2202	4300	6502	SO:0001583	missense	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51075911G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.94G>A	X.37:g.51075911G>A	ENSP00000365174:p.Glu32Lys					NUDT10_uc004dpi.3_Missense_Mutation_p.E32K	p.E32K	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN			2	314	+	Ovarian(276;0.236)		32			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000376006.3	37	c.94G>A	CCDS35278.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023041	0.75275	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.39997	1.05;1.05	2.61	2.61	0.31194	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	L	0.53561	1.675	0.40121	D	0.976604	P	0.37781	0.608	B	0.25405	0.06	T	0.52503	-0.8567	9	0.46703	T	0.11	-28.0838	10.5502	0.45083	0.0:0.0:1.0:0.0	.	32	Q8NFP7	NUD10_HUMAN	K	32	ENSP00000365174:E32K;ENSP00000348831:E32K	ENSP00000348831:E32K	E	+	1	0	NUDT10	51092651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.191000	0.89716	1.602000	0.50124	0.429000	0.28392	GAG		0.687	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1		NM_153183		7	25	0	0	0	0.000157383	0	7	25		
SLC7A3	84889	broad.mit.edu	37	X	70148785	70148785	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:70148785C>T	ENST00000374299.3	-	3	582	c.438G>A	c.(436-438)aaG>aaA	p.K146K	SLC7A3_ENST00000298085.4_Silent_p.K146K			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	146					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCAGAGTCTTAGAGATGT	0.542																																						uc004dyn.2		NaN																	0				ovary(1)|kidney(1)	2						c.(436-438)AAG>AAA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						67.0	61.0	63.0					X																	70148785		2203	4300	6503	SO:0001819	synonymous_variant	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148785C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.438G>A	X.37:g.70148785C>T						SLC7A3_uc004dyo.2_Silent_p.K146K	p.K146K	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			3	596	-	Renal(35;0.156)		146			Extracellular (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	c.438G>A	CCDS14404.1																																																																																				0.542	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1		NM_032803		12	61	0	0	0	0.00010058	0	12	61		
AGTR2	186	broad.mit.edu	37	X	115304028	115304029	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:115304028_115304029CC>AA	ENST00000371906.4	+	3	685_686	c.495_496CC>AA	c.(493-498)ccCCtt>ccAAtt	p.L166I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	166					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	ATATAGTTCCCCTTGTTTGGTG	0.396																																						uc004eqh.3		NaN																	0				ovary(2)|lung(1)	3						c.(493-498)CCCCTT>CCAATT		angiotensin II receptor, type 2																																				SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304028_115304029CC>AA	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	Exception_encountered	X.37:g.115304028_115304029delinsAA	ENSP00000360973:p.Leu166Ile						p.L166I	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	702_703	+			166			Helical; Name=4; (Potential).		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	DNP	ENST00000371906.4	37	c.495_496CC>AA	CCDS14569.1																																																																																				0.396	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1		NM_000686		14	397	0	0	0	6.4e-05	0	14	397		
THOC2	57187	broad.mit.edu	37	X	122756965	122756965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:122756965C>T	ENST00000245838.8	-	29	3704	c.3673G>A	c.(3673-3675)Gag>Aag	p.E1225K	THOC2_ENST00000355725.4_Missense_Mutation_p.E1225K|THOC2_ENST00000491737.1_Missense_Mutation_p.E1110K|THOC2_ENST00000497887.1_5'Flank	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1225					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAGTCTCCTCAGTACTGCTT	0.403																																						uc004etu.2		NaN																	0				ovary(3)	3						c.(3673-3675)GAG>AAG		THO complex 2							76.0	69.0	71.0					X																	122756965		1856	4099	5955	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122756965C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3673G>A	X.37:g.122756965C>T	ENSP00000245838:p.Glu1225Lys					THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.E46K	p.E1225K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			29	3705	-			1225					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3673G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636076	0.67130	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	T;T;T	0.42900	0.96;0.96;0.96	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000002	T	0.53642	0.1809	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.39623	-0.9605	10	0.17369	T	0.5	-15.5517	19.3337	0.94306	0.0:1.0:0.0:0.0	.	1225	Q8NI27	THOC2_HUMAN	K	1225;1225;1110	ENSP00000245838:E1225K;ENSP00000347959:E1225K;ENSP00000419795:E1110K	ENSP00000245838:E1225K	E	-	1	0	THOC2	122584646	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.878000	0.75567	2.519000	0.84933	0.538000	0.68166	GAG		0.403	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3				24	93	0	0	0	0.000375601	0	24	93		
ELF4	2000	broad.mit.edu	37	X	129208117	129208117	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:129208117C>G	ENST00000308167.5	-	4	627		c.e4-1		ELF4_ENST00000335997.7_Splice_Site	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCATTGTCATCTGGTCCGGGT	0.532			T	ERG	AML																																	uc004evd.3		NaN		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.e4-1		E74-like factor 4							156.0	129.0	139.0					X																	129208117		2203	4300	6503	SO:0001630	splice_region_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129208117C>G	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.248-1G>C	X.37:g.129208117C>G						ELF4_uc004eve.3_Splice_Site_p.D83_splice	p.D83_splice	NM_001421	NP_001412	Q99607	ELF4_HUMAN			4	633	-									Splice_Site	SNP	ENST00000308167.5	37	c.248_splice	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469703	0.63625	.	.	ENSG00000102034	ENST00000335997;ENST00000308167;ENST00000434609	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6606	0.39952	0.0:0.9035:0.0:0.0965	.	.	.	.	.	-1	.	.	.	-	.	.	ELF4	129035798	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.485000	0.60279	2.475000	0.83589	0.594000	0.82650	.		0.532	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1		NM_001421	Intron	53	165	0	0	0	0.000147903	0	53	165		
PHF6	84295	broad.mit.edu	37	X	133549106	133549106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:133549106G>C	ENST00000332070.3	+	8	992	c.790G>C	c.(790-792)Gat>Cat	p.D264H	PHF6_ENST00000416404.2_Missense_Mutation_p.D230H|PHF6_ENST00000370799.1_Missense_Mutation_p.D265H|PHF6_ENST00000370803.3_Missense_Mutation_p.D264H|PHF6_ENST00000394292.1_Missense_Mutation_p.D265H|PHF6_ENST00000370800.4_Missense_Mutation_p.D265H	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	264	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TGGAGACTTTGATATTAAAAC	0.333			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.2		NaN		Rec	yes		X	Xq26.3	84295		PHD finger protein 6			L					0				ovary(1)	1						c.(790-792)GAT>CAT		PHD finger protein 6 isoform 1							64.0	61.0	62.0					X																	133549106		2203	4297	6500	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133549106G>C	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.790G>C	X.37:g.133549106G>C	ENSP00000329097:p.Asp264His					PHF6_uc004exk.2_Missense_Mutation_p.D264H|PHF6_uc011mvk.1_Missense_Mutation_p.D230H|PHF6_uc004exh.2_Missense_Mutation_p.D265H|PHF6_uc010nrr.2_Missense_Mutation_p.D264H|PHF6_uc004exi.2_Missense_Mutation_p.D265H	p.D264H	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN			8	992	+	Acute lymphoblastic leukemia(192;0.000127)		264					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.790G>C	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567859	0.86439	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;D	0.91295	-0.57;-0.57;-0.57;-0.57;-0.57;-2.82	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.92844	0.7724	L	0.35644	1.08	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.997	D	0.92771	0.6232	10	0.45353	T	0.12	-19.1935	17.4048	0.87470	0.0:0.0:1.0:0.0	.	230;264;264;265;265	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	H	264;264;265;265;230;265	ENSP00000359839:D264H;ENSP00000329097:D264H;ENSP00000377831:D265H;ENSP00000359835:D265H;ENSP00000394480:D230H;ENSP00000359836:D265H	ENSP00000329097:D264H	D	+	1	0	PHF6	133376772	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.410000	0.81850	0.594000	0.82650	GAT		0.333	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1		NM_032458		53	80	0	0	0	0.000147903	0	53	80		
FGF13	2258	broad.mit.edu	37	X	137939732	137939732	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:137939732G>A	ENST00000441825.2	-	1	109	c.72C>T	c.(70-72)caC>caT	p.H24H	FGF13_ENST00000370603.3_Silent_p.H53H|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.H53H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AGAAGATTTCGTGACACTTAG	0.478																																						uc004faq.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(157-159)CAC>CAT		fibroblast growth factor 13 isoform 3							225.0	193.0	203.0					X																	137939732		1568	3582	5150	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137939732G>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000441825.2:c.72C>T	X.37:g.137939732G>A						FGF13_uc011mwi.1_Silent_p.H24H|FGF13_uc004far.2_Silent_p.H24H|FGF13_uc011mwj.1_Silent_p.H53H|FGF13_uc011mwk.1_Intron	p.H53H	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN			2	335	-	Acute lymphoblastic leukemia(192;0.000127)		Error:Variant_position_missing_in_Q92913_after_alignment					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000441825.2	37	c.159C>T	CCDS55511.1																																																																																				0.478	FGF13-202	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_004114		65	149	0	0	0	0.000147903	0	65	149		
PRRG3	79057	broad.mit.edu	37	X	150869180	150869180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:150869180G>A	ENST00000370353.3	+	4	761	c.371G>A	c.(370-372)cGc>cAc	p.R124H	PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Missense_Mutation_p.R124H			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	124						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R124H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCAGTCGCGCCGGGCAC	0.632																																						uc004few.1		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(3)|skin(1)	4						c.(370-372)CGC>CAC		proline rich Gla (G-carboxyglutamic acid) 3							73.0	75.0	74.0					X																	150869180		2203	4300	6503	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869180G>A	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.371G>A	X.37:g.150869180G>A	ENSP00000359378:p.Arg124His						p.R124H	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN			4	761	+	Acute lymphoblastic leukemia(192;6.56e-05)		124			Cytoplasmic (Potential).		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.371G>A	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451370	0.43531	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98474	-4.95;-4.95	4.65	3.76	0.43208	.	0.209202	0.42053	D	0.000770	D	0.93058	0.7790	L	0.40543	1.245	0.38228	D	0.940947	P	0.38992	0.653	B	0.25291	0.059	D	0.90828	0.4714	10	0.13108	T	0.6	-22.0676	5.6733	0.17735	0.1107:0.0:0.6912:0.198	.	124	Q9BZD7	TMG3_HUMAN	H	124	ENSP00000440217:R124H;ENSP00000359378:R124H	ENSP00000359378:R124H	R	+	2	0	PRRG3	150619836	1.000000	0.71417	0.740000	0.30986	0.972000	0.66771	5.483000	0.66838	2.050000	0.60909	0.529000	0.55759	CGC		0.632	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1		NM_024082		18	81	0	0	0	0.000566183	0	18	81		
RENBP	5973	broad.mit.edu	37	X	153206997	153206997	+	Silent	SNP	G	G	A	rs199613622		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:153206997G>A	ENST00000393700.3	-	8	959	c.879C>T	c.(877-879)tcC>tcT	p.S293S	RENBP_ENST00000369997.3_Silent_p.S279S|RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	293					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GGTCCCATCCGGAGTGGAAGG	0.587													G|||	1	0.000264901	0.0008	0.0	3775	,	,		9120	0.0		0.0	False		,,,				2504	0.0					uc004fjo.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(877-879)TCC>TCT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						116.0	102.0	107.0					X																	153206997		2203	4300	6503	SO:0001819	synonymous_variant	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153206997G>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.879C>T	X.37:g.153206997G>A						RENBP_uc011mzh.1_3'UTR	p.S293S	NM_002910	NP_002901	P51606	RENBP_HUMAN			8	1049	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		293					B4DNZ3|Q96BI6	Silent	SNP	ENST00000393700.3	37	c.879C>T	CCDS14738.2																																																																																				0.587	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3		NM_002910		29	107	0	0	0	0.000184323	0	29	107		
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						uc001bft.2		NaN																	0				ovary(1)	1						c.(2395-2397)AAGdel		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_uc001bfu.2_In_Frame_Del_p.K803del|ZBTB40_uc009vqi.1_In_Frame_Del_p.K691del|ZBTB40_uc001bfv.1_In_Frame_Del_p.K432del	p.K803del	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870		7	115	NaN	NaN	NaN	NaN	NaN	7	115	---	---
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						uc001gow.2		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1066-1071)AAAGAGfs		calcium channel, voltage-dependent, R type,			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs	p.K356fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			8	1233_1234	+			356_357			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721		9	85	NaN	NaN	NaN	NaN	NaN	9	85	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204400888	204400889	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:204400888_204400889insA	ENST00000367187.3	-	29	4744_4745	c.4188_4189insT	c.(4186-4191)actcacfs	p.H1397fs	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H1369fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1397	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTGGCCTCGTGAGTGTTCTCTC	0.535											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001haw.2		NaN																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(4186-4191)ACTCACfs		phosphoinositide-3-kinase, class 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204400888_204400889insA	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4189dupT	1.37:g.204400889_204400889dupA	ENSP00000356155:p.His1397fs		OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2144	PIK3C2B_uc010pqv.1_Frame_Shift_Ins_p.T1368fs	p.T1396fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		29	4667_4668	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1396_1397			PX.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.4188_4189insT	CCDS1446.1																																																																																				0.535	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646		43	171	NaN	NaN	NaN	NaN	NaN	43	171	---	---
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:15254987_15254989delTCA	ENST00000378116.4	-	8	2604_2606	c.2598_2600delTGA	c.(2596-2601)gatgac>gac	p.866_867DD>D	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	866						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCTCCTTGGTCATCATCATCAT	0.571																																						uc001iob.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(2596-2601)GATGAC>GAC		hypothetical protein LOC221061 precursor																																				SO:0001651	inframe_deletion	221061					integral to membrane		g.chr10:15254987_15254989delTCA	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2598_2600delTGA	10.37:g.15254996_15254998delTCA	ENSP00000367356:p.Asp867del						p.866_867DD>D	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	2605_2607	-			866_867			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	In_Frame_Del	DEL	ENST00000378116.4	37	c.2598_2600delTGA	CCDS31154.1																																																																																				0.571	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		XM_167709		7	292	NaN	NaN	NaN	NaN	NaN	7	292	---	---
LRP1	4035	broad.mit.edu	37	12	57606238	57606239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:57606238_57606239insG	ENST00000243077.3	+	89	14001_14002	c.13535_13536insG	c.(13534-13539)atggggfs	p.MG4512fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4512	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACTCTACATGGGGGGCCATG	0.644																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(13534-13536)ATGfs		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57606238_57606239insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13541dupG	12.37:g.57606244_57606244dupG	ENSP00000243077:p.Met4512fs						p.M4512fs	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14001_14002	+			4512			Cytoplasmic (Potential).|Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.13535_13536insG	CCDS8932.1																																																																																				0.644	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		19	1896	NaN	NaN	NaN	NaN	NaN	19	1896	---	---
SLC25A30	253512	broad.mit.edu	37	13	45971416	45971417	+	In_Frame_Ins	INS	-	-	TAA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:45971416_45971417insTAA	ENST00000539591.1	-	8	820_821	c.657_658insTTA	c.(655-660)ttgaga>ttgTTAaga	p.219_220insL				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	270					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GGACCAAGTCTCAACCAATTTG	0.307																																						uc001vag.2		NaN																	0				breast(1)	1						c.(808-813)insTTA		solute carrier family 25, member 30																																				SO:0001652	inframe_insertion	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45971416_45971417insTAA	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.657_658insTTA	13.37:g.45971416_45971417insTAA	ENSP00000443542:p.Leu220_Leu221dup					SLC25A30_uc010tfs.1_In_Frame_Ins_p.195_196insL|SLC25A30_uc001vah.2_In_Frame_Ins_p.195_196insL|SLC25A30_uc010tft.1_In_Frame_Ins_p.219_220insL|SLC25A30_uc001vaf.2_3'UTR	p.270_271insL	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	9	947_948	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	270_271			Solcar 3.|Helical; Name=6; (Potential).		B2RN96|B4DZK3|F5H8H8	In_Frame_Ins	INS	ENST00000539591.1	37	c.810_811insTTA																																																																																					0.307	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding			XM_170736		40	78	NaN	NaN	NaN	NaN	NaN	40	78	---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574																																						uc002esu.2		NaN																	0				skin(1)	1						c.(2299-2304)CCCGTGfs		potassium channel tetramerisation domain				13,3719		0,13,1853						4.5	1.0			57	14,7888		0,14,3937	no	frameshift	KCTD19	NM_001100915.1		0,27,5790	A1A1,A1R,RR		0.1772,0.3483,0.2321				27,11607				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657_67325658insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302dupC	16.37:g.67325664_67325664dupG	ENSP00000305702:p.Val768fs					KCTD19_uc002est.2_Frame_Shift_Ins_p.P539fs|KCTD19_uc010vjj.1_Frame_Shift_Ins_p.P510fs	p.P767fs	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	13	2352_2353	-		Ovarian(137;0.192)	767_768					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.2301_2302insC	CCDS42179.1																																																																																				0.574	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367		9	105	NaN	NaN	NaN	NaN	NaN	9	105	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						uc003jmk.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)	7	GRCh37	CD982526	C6	D		c.(826-831)GGGAGCfs		complement component 6 precursor																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_uc003jml.1_Frame_Shift_Ins_p.G276fs	p.G276fs	NM_000065	NP_000056	P13671	CO6_HUMAN			7	1038_1039	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	276_277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1				30	62	NaN	NaN	NaN	NaN	NaN	30	62	---	---
